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# Asper Biogene - genetic testing company

with a set of efficient DNA tests

## Sitemaps

- [XML Sitemap](https://www.asperbio.com/sitemap.xml): Contains all public & indexable URLs for this website.

## Posts

- [News](https://www.asperbio.com/news) - Asper Biogene news and media center
- [Asper Biogene ISO15189 accreditation extension 2026](https://www.asperbio.com/asper-biogene-iso15189-accreditation-extension-2026/) - The Estonian Standardization and Accreditation Center conducted a regular audit in 2026 and confirms that Asper Biogene OÜ meets the requirements of EVS-EN ISO 15189:2022 as a medical laboratory in the field of genetics. Into list of accredited tests were added: Determination of thrombophilia-related changes using NGS analysis, Determination of hypolactasia-related changes using NGS and
- [Asper Biogene ISO15189 akrediteeringu laiendus 2026](https://www.asperbio.com/asper-biogene-iso15189-accreditation-extension-2026/) - Eesti Standardimis- ja Akrediteerimiskeskus viis läbi 2026.a. korralise auditi ja kinnitab, et Asper Biogene OÜ vastab EVS-EN ISO 15189:2022 nõuetele kui meditsiinilabor geneetika valdkonnas. Akrediteeritud testide hulka lisandusid: Trombofiiliaga seotud muutuste määramine NGS analüüsiga, Hüpolaktaasiaga seotud muutuste määramine NGS ja Sanger analüüsiga
- [Häid pühi ja head vana aasta lõppu!](https://www.asperbio.com/haid-puhi-ja-head-vana-aasta-loppu/) - Sel rahu, armastuse ja märkamise pühal mõtiskledes seisame koos Ukrainaga ning kõigi nendega, kes kaitsevad vabadust ja inimväärikust. Täname teid koostöö eest ning vaatame lootusrikkalt uude aastasse.
- [Merry Christmas and Happy New Year!](https://www.asperbio.com/merry-christmas-and-happy-new-year/) - Merry Christmas and Happy New Year!
- [Asper Biogene ISO 15189:2022 Akrediteering](https://www.asperbio.com/asper-biogene-iso-151892022-accreditation/) - MTÜ Eesti Standardimis- ja Akrediteerimiskeskus kinnitab, et Asper Biogene OÜ vastab EVS-EN ISO 15189:2022 nõuetele kui meditsiinilabor geneetika valdkonnas. Akrediteeritud testide hulka lisandusid: I tüüpi müotoonilise düstroofiaga (DM1) seotud DMPK geeni kordusjärjestuste analüüs, II tüüpi müotoonilise düstroofiaga (DM2) seotud CNBP geeni kordusjärjestuste analüüs X-liitelise pigmentretiniidiga (XL- RP) seotud RPGR geeni 15. eksoni (ORF15 regiooni) muutuste
- [Asper Biogene ISO 15189:2022 Accreditation](https://www.asperbio.com/asper-biogene-iso-151892022-accreditation/) - NPA Estonian Centre for Standardisation and Accreditation confirms that Asper Biogene LLC conforms to the requirements of EVS-EN ISO 15189:2022 as medical laboratory in the field of genetics. Accreditation scope was expanded by 3 tests: Repeat expansions in the DMPK gene associated with the myotonic dystrophy, type 1 (DM1) Repeat expansions in the CNPB gene associated
- [Asper Biogene launched immunogenetics NGS panels](https://www.asperbio.com/asper-biogene-launched-immunogenetics-ngs-panels/) - As of May Asper Biogene has a new test group in Asper's testing portfolio: Immunogenetics. For more details visit the Asper Immonogenetics page.
- [Asper tõi välja immuunogeneetika portfelli](https://www.asperbio.com/asper-biogene-launched-immunogenetics-ngs-panels/) - Alates maist on Asper Biogene portfellis olemas eraldi immunogeneetika testide osa. Vaata täpsemalt Asperi immunogenetika testide lehelt
- [Uued testid neurogeneetika portfellis](https://www.asperbio.com/et/uued-testid-neurogeneetika-portfellis/) - Asper Biogene Neurogenetics testide valikus on nüüd ka Müotoonilise lihasdüstroofia tüüp I ja Mütoonilise lihasdüstroofia tüüp II testid. Mitmed paneelid on uuendatud. Vaata täpsemalt Asperi Neurogeneetiliste analüüside leheküljelt
- [New tests and updates in Asper Neurogenetics](https://www.asperbio.com/new-tests-and-updates-in-asper-neurogenetics/) - Oculopharyngeal Muscular Dystrophy, Spinocerebellar ataxia type 12 and Unverricht Lundborg disease tests were added into Asper Biogene's Neurogenetics portfolio. Also there are some changes as well as updates in panels. Please see Asper Neurogenetics menu for more details.
- [Neurogeneetika testide uuendused](https://www.asperbio.com/new-tests-and-updates-in-asper-neurogenetics/) - Asper Biogene Neurogenetics testide valikus on nüüd ka Okulofarüngeaalne lihasdüstroofia; Spinotserebellaarse ataksia tüüp 12 ja Unverricht-Lundborgi tõvega seotud testid. Mitmed paneelid on uuendatud. Vaata täpsemalt Asperi Neurogeneetiliste analüüside leheküljelt
- [Asper's genetics lab ISO15189 accreditation scope extension](https://www.asperbio.com/aspers-genetics-lab-iso15189-accreditation-scope-extension/) - Estonian Accreditation Centre confirmed Asper Biogene's Medical laboratory ISO15189 accreditation scope extension as of 20.07.2022. Celiac disease genetic risk assessment is also conforms to the requirements of ISO15189:2012.
- [Updates in Asper Neurogenetics and Metabolic diseases tests](https://www.asperbio.com/updates-in-asper-neurogenetics-tests/) - Several gene panels have been updated including CMT, Leukodystrophy & Leukoencephalopathy, Hereditary Spastic Paraplegia and Metabolic Myopathy panels. Learn more at Asper Neurogenetics Menu and Asper Metabolic Disorders Menu
- [Mitmete geenipaneelide uuendused](https://www.asperbio.com/et/mitmete-geenipaneelide-uuendused/) - Mitmed suuremahulised geenipaneelid on täiendatud, sealhulgas Charcot-Marie-Toothi, leukodüstroofia & leukoentsefalopaatia, päriliku spastilise parapleegia, mitokondriaalsete haiguste ja metaboolse müopaatia paneelid. Täpsemalt vaadake Asperi Neurogeneetiliste analüüside ja Asperi Metaboolsete haiguste analüüside hulgast
- [EXPO 2020 Dubai](https://www.asperbio.com/et/expo-2020-dubai/) - Asper Biogene-l on au kuuluda Tartu delegatsiooni ja osaleda paneeldiskussioonis 31. jaanuaril Eesti paviljonis toimuval seminaril “Digital Nation. Personalized solutions for healthcare & wellbeing”. Arutlusele tulevad muutused ja väljakutsed molekulaarses diagnostikas, geneetilise informatsiooni rakendamine vähiennetuses ning digilahendused meditsiinis. 👉 Seminari kava ja registreerimine: https://business.tartu.ee/expo/health/ Seminari korraldab Tartu linn koos ettevõttega Antegenes, mis on EXPO Eesti
- [Expo 2020 Dubai](https://www.asperbio.com/expo-2020-dubai/) - Come join us for a business seminar “Digital nation. Personalized solutions for healthcare & wellbeing” at Expo 2020 Dubai! Together with a distinguished Estonian health-tech delegation we will introduce how high-level research has given rise to globally successful life-science companies. Our seminar will cover topics like: 🔷 Vision speech explaining the success story of Estonian
- [Koostöö Leedu kliinikuga GJ Klinika](https://www.asperbio.com/et/koostoo-leedu-kliinikuga-gj-klinika/) - Meil on hea meel teada anda, et oleme alustanud koostööd Leedu kliinikuga GJ Klinika. GJ Klinika laias teenuste valikus on nii reproduktiivmeditsiini, sünnieelse diagnostika kui ka vastsündinute skriininguga seotud geeniteste. Samuti kardiogeneetika ja farmakogeneetika alaseid teste. Rohkem infot https://gjklinika.lt
- [Cooperation with GJ Klinika](https://www.asperbio.com/cooperation-with-gj-klinika/) - We are excited to announce that we have started cooperation with GJ Klinika from Lithuania. GJ Klinika provides a wide range of genetic testing services including reproductive genetics, prenatal diagnostics, newborn genetic testing, and also cardio- and pharmacogenetics. Visit https://gjklinika.lt to learn more.
- [Hüperinsulinismi geenipaneel](https://www.asperbio.com/et/huperinsulinismi-geenipaneel/) - Testide valik sisaldab nüüd 12 geeni analüüsi hõlmavat hüperinsulinismi geenipaneeli. Geenide nimekiri on leitav siit asper-endocrinology-testid/huperinsulinism
- [Asper Endocrinology](https://www.asperbio.com/asper-endocrinology/) - Hyperinsulinism gene panel of 12 genes is now available. Visit asper-endocrinology/hyperinsulinism to see the panel content.
- [Uus paneel onkoloogiliste testide valikus](https://www.asperbio.com/et/uus-paneel-onkoloogiliste-testide-valikus/) - Nüüd on võimalik tellida neeruvähi paneeli, mis hõlmab 25 geeni analüüsi. Melanoomi ja eesnäärmevähi geenipaneelid on läbinud uuenduse. Rohkem infot www.asperbio.com/asper-oncogenetics-testid/
- [Asper Oncogenetics news](https://www.asperbio.com/asper-oncogenetics-news/) - New panel specifically targeting mutations in 25 genes implicated in renal cancer is now available. In addition, we have added genes to the melanoma and the prostate cancer gene sets. Visit asper-oncogenetics to learn more!
- [Neuromuskulaarsete haigustega seotud geenipaneelid](https://www.asperbio.com/updates-in-asper-neurogenetics-menu/) - Mitmeid geenipaneele, nagu epilepsia, autism ja jäsemevöötme lihasdüstroofia, on täiendatud uute geenidega. Täpsem info www.asperbio.com/asper-neurogenetics-testid
- [Updates in Asper Neurogenetics menu](https://www.asperbio.com/updates-in-asper-neurogenetics-menu/) - Several gene panels have been updated including epilepsy, autism, and limb girdle muscular dystrophy panels. Learn more at www.asperbio.com/asper-neurogenetics
- [Uued geenipaneelid](https://www.asperbio.com/et/uued-geenipaneelid-2/) - Meie testide valikus on nüüd neutropeenia geenipaneel 26 geeniga ja raske kombineeritud immuunpuudulikkuse paneel 44 geeniga. Rohkem informatsiooni www.asperbio.com/asper-hematology-testid/
- [New panels in Asper Hematology testing menu](https://www.asperbio.com/new-panels-in-asper-hematology-testing-menu/) - Neutropenia panel for 26 genes and severe combined immunodeficiency panel for 44 genes are now available through Asper Biogene. Visit www.asperbio.com/asper-hematology/ to learn more!
- [Nahahaigustega seotud geenipaneelid](https://www.asperbio.com/et/nahahaigustega-seotud-geenipaneelid-2/) - Okulokutaanse albinismi ja ihtüoosiga seotud geenipaneele on täiendatud mitmete uute geenidega. Täpsem info www.asperbio.com/asper-dermatology-testid/
- [Updates in Dermatology testing menu](https://www.asperbio.com/updates-in-dermatology-testing-menu/) - We have added new genes to the Oculocutaneous Albinism and Ichthyosis gene panels. Learn more at www.asperbio.com/asper-dermatology/
- [Updated panels](https://www.asperbio.com/updated-panels-endocrinology-otogenetics) - New genes have been added to Sensorineural Hearing Loss and Hypothyroidism and Thyroid Hormone Resistance panels. Learn more at www.asperbio.com/snhl-ngs-panel and www.asperbio.com/hypothyroidism-and-thyroid-hormone-resistance-ngs-panel/
- [Geenipaneelide täiendus](https://www.asperbio.com/et/snhl-hüpotüreoidism-türeoidhormooni-resistentsus/) - Sensorineuraalse kuulmislanguse ja hüpotüreoidismi ja türeoidhormooni resistentsuse geenipaneele on täiendatud uute geenidega. Täpsem info www.asperbio.com/snhl ja www.asperbio.com/hupotureoidism-ja-tureoidhormooni-resistentsus
- [Farmakogeneetiliste testide uuendused](https://www.asperbio.com/et/farmakogeneetiliste-testide-uuendused/) - Farmakogeneetiliste testide valikusse on lisandunud kontratseptiivid + hormoonasendusravi PGx test. Pahaloomulise hüpertermia paneeliga saab nüüd analüüsida ka STAC3 geeni. Rohkem infot https://www.asperbio.com/asper-pharmacogenetics/
- [News in Asper Pharmacogenetics](https://www.asperbio.com/news-in-asper-pharmacogenetics/contraceptives) - Asper Pharmacogenetics testing menu has been updated with Contraceptives + HRT PGx test. Malignant hyperthermia panel now includes the STAC3 gene. Visit https://www.asperbio.com/asper-pharmacogenetics/ to see more detailed information.
- [Päriliku ataksia testide valik](https://www.asperbio.com/hereditary-ataxia-testing-menu/) - Päriliku ataksia testimisvõimalused on laienenud. Lisaks laiapõhjalisele paneelile, saab kordusjärjestuste analüüsi nüüd tellida ka väiksemas mahus - spinotserebellaarse ataksia vormide 1, 2, 3 ja 6 testimiseks. Täpsem info www.asperbio.com/ataksia
- [Hereditary ataxia testing menu](https://www.asperbio.com/hereditary-ataxia-testing-menu/) - We have upgraded our hereditary ataxia testing menu. In addition to the comprehensive panel, repeat expansion analysis for SCA1, SCA2, SCA3 and SCA6 is also available. Learn more at https://www.asperbio.com/asper-neurogenetics/hereditary-ataxia/
- [Antidepressandid PGx](https://www.asperbio.com/et/antidepressandid-pgx/) - Meil on hea meel teada anda, et Asper Biogene on valmis saanud uue farmakogeneetilise testi - Antidepressandid PGx - geenide ja ravimite omavahelise mõju hindamiseks. Antidepressandid PGx test koosneb hoolega valitud ja rangelt tõenduspõhistest geneetilistest markeritest. Testi tulemused sisaldavad soovitusi selektiivsete serotoniini tagasihaarde inhibiitorite (SSTI) ja tritsükliliste antidepressantide (TTA) dooside optimeerimiseks vastavalt Clinical Pharmacogenetics Implemetation
- [Antidepressants PGx test](https://www.asperbio.com/antidepressants-pgx-test/) - We are pleased to announce that Asper Biogene has launched a new pharmacogenetic test - Antidepressants PGx - for assessing metabolic response to antidepressant medications. Antidepressants PGx test includes carefully selected and strictly evidence-based genetic markers. The test provides dosing recommendations for selective serotonin reuptake inhibitors (SSRIs) and tricyclic antidepressants (TCAs) based on guidelines published
- [Uuendatud paneelid](https://www.asperbio.com/et/uuendatud-paneelid/) - Mikrotsefaalia ja päriliku spastilise parapleegia geenipaneelidele on lisatud mitmeid uusi geene. Täpsem info /www.asperbio.com/asper-neurogenetics-testid/
- [Updated panels](https://www.asperbio.com/updated-panels/) - Microcephaly and hereditary spastic paraplegia panels have been updated with multiple new genes. Learn more at www.asperbio.com/asper-neurogenetics
- [Asper Neurogenetics news](https://www.asperbio.com/asper-neurogenetics-news/) - Epilepsy panel and Autism Spectrum Disorders panels have been updated with multiple new genes. Discover more at www.asperbio.com/asper-neurogenetics/
- [Koopiaarvu muutuste analüüs ja mitte-kodeerivad variandid](https://www.asperbio.com/et/koopiaarvu-muutuste-analuus-ja-mitte-kodeerivad-variandid/) - Kõik geenipaneelid sisaldavad nüüd koopiaarvu muutuste analüüsi. Frontotemporaalse dementsuse, tuberoosse skleroosi, mikrotsefaalia ja päriliku spastilise parapleegia paneelidele on lisatud kliiniliselt olulised mitte-kodeerivad variandid. Täpsem info www.asperbio.com/asper-neurogenetics-testid
- [CNV analysis](https://www.asperbio.com/cnv-analysis/) - All NGS panels in our testing menu now include CNV analysis. Panels for frontotemporal dementia, tuberous sclerosis, microcephaly, and hereditary spastic paraplegia cover the analysis of clinically relevant non-coding variants. Learn more at www.asperbio.com/asper-neurogenetics
- [Ataksia konverents](https://www.asperbio.com/et/ataksia-konverents/) - Asper Biogene osaleb 10.-13. märtsil National Ataxia Foundation poolt korraldataval iga-aastasel ataksia konverentsil, mis toimub sel aastal virtuaalselt ja toob kokku juhtivad ataksia eksperdid. Kasutage võimalust ja viige ennast kurssi viimaste ataksia teemaliste uuringute ja ravi ning diagnostika arengutega. Külastage virtuaalset näitust ja tutvuge meie poolt pakutavate ataksia geneetilise testimise võimalustega.
- [2021 Annual Ataxia Conference](https://www.asperbio.com/2021-annual-ataxia-conference/) - Asper Biogene is attending the Annual Ataxia Conference, 10-13 March, organised by the National Ataxia Foundation. The conference will be held online and brings together leading ataxia experts. Do not miss the opportunity to get informed about recent research on ataxias and developments in treatment targets and diagnostics. Take a close look at our virtual
- [Düsmorfoloogia menüü uuendus](https://www.asperbio.com/et/dusmorfoloogia-menuu-uuendus/) - Oleme põhjalikult uuendanud düsmorfoloogiaga seotud geenipaneele. Uusi, haigusseoselisi geene on lisatud paljudele paneelidele, nagu aju malformatsioonid, kraniosünostoos, mikrotsefaalia, skeleti düsplaasia jt. Kogu testide menüü on nähtav siin www.asperbio.com/asper-dysmorphology-testid
- [Updated Asper Dysmorphology menu](https://www.asperbio.com/updated-asper-dysmorphology-menu/) - We have launched an updated Asper Dysmorphology menu. New phenotypically relevant disease-causing genes have been added to many of the panels including brain malformation, microcephaly, skeletal dysplasia, craniosynostosis and several other panels. Visit www.asperbio.com/asper-dysmorphology to see the whole list of tests.
- [Nahahaigustega seotud geenipaneelid](https://www.asperbio.com/asper-dermatology-panels/) - Nahahaigustega seotud geenipaneelid on saanud täiendust mitmete uute geenide näol, mis aitavad hõlbustada diferentsiaaldiagnostikat. Uuendatud geenipaneelide nimekiri www.asperbio.com/asper-dermatology-testid
- [Asper Dermatology panels](https://www.asperbio.com/asper-dermatology-panels/) - Asper Dermatology panels have been updated with multiple new genes highly relevant for differential diagnosis. List of the updated panels is available www.asperbio.com/asper-dermatology
- [Nahalõtvuse geenipaneeli täiendus](https://www.asperbio.com/et/nahalotvuse-geenipaneeli-taiendus/) - Nahalõtvuse geenipaneeli uuendatud versioon on nähtav siin www.asperbio.com/nahalotvus/
- [News in Asper Dermatology](https://www.asperbio.com/news-in-asper-dermatology/cutis-laxa) - We have updated our Cutis Laxa panel. Visit www.asperbio.com/cutis-laxa-ngs-panel/ to see the new version of the test.
- [Uus paneel Asper Cardiogenetics menüüs](https://www.asperbio.com/et/uus-paneel-asper-cardiogenetics-menuus/) - Vasaku vatsakese mitte-kompaktse kardiomüopaatia geenipaneel katab 13 geeni analüüsi. Täpsem info https://www.asperbio.com/et/asper-cardiogenetics-testid/vasaku-vatsakese-mitte-kompaktse-kardiomuopaatiaga-seotud-geenide-sekveneerimine/
- [New panel in Asper Cardiogenetics](https://www.asperbio.com/new-panel-in-asper-cardiogenetics/) - Left Ventricular Noncompaction Cardiomyopathy panel covers the analysis of 13 genes. Read more at www.asperbio.com/left-ventricular-noncompaction-cardiomyopathy
- [Updates in Asper Neurogenetics testing menu](https://www.asperbio.com/updates-in-asper-neurogenetics-testing-menu/) - We now offer a new test for Congenital Muscular Dystrophy, which covers 29 genes and disease-associated non-coding variants. Cornelia de Lange Syndrome and Limb-Girdle Muscular Dystrophy panels also include the analysis of non-coding variants. In addition, we have added genes to the Limb-Girdle Muscular Dystrophy gene set. Learn more at www.asperbio.com/asper-neurogenetics/
- [Neuroloogia valdkonna testide uuendus](https://www.asperbio.com/et/neuroloogia-valdkonna-testide-uuendus/) - Lisandunud on uus test - kaasasündinud lihasdüstroofia, millega saab analüüsida 29 geeni ja valikut haigusseoselisi mittekodeerivaid variante. Cornelia de Lange sündroomi ja jäsemevöötme lihasdüstroofia geenipaneel katab nüüd ka mittekodeerivate variantide analüüsi. Lisaks sai jäsemevöötme lihasdüstroofia paneel täiendust uute geenide näol. Täpsem info www.asperbio.com/asper-neurogenetics-testid/
- [EU60187 Project](https://www.asperbio.com/eu60187-project-prototype-development-of-pharmacogenetic-test/) - Asper Biogene is working on the new project - „Prototype development of pharmacogenetic test“. Project goals: 1. To develop a prototype of pharmacogenetic test to maximize drug efficacy and reduce adverse drug reactions for most common drugs (at least 30 drugs) listed in the internationally agreed pharmacogenetic clinical practice guidelines. 2. To develop medical informatics
- [EU60187 projekt](https://www.asperbio.com/et/eu60187-projekt/) - Asper Biogene osaleb uues teadusprojektis - „Farmakogeneetilise testi prototüübi arendus“. Projekti eesmärgid: 1. Arendada välja farmakogeneetilise testi prototüüp ravimite efektiivsemaks ja ohutumaks kasutamiseks levinumate ravimite korral (vähemalt 30 ravimit), mille kohta on rahvusvaheliselt tunnustatud farmakogeneetikast lähtuvad ravijuhised. 2. Arendada välja veebipõhine farmakogeneetilise testi tulemuste raporti automaatse genereerimise tööriist tulemuste edastamiseks arstidele sealhulgas Tervise ja Heaolu
- [Pärilik ataksia](https://www.asperbio.com/et/parilik-ataksia/) - Oleme laiendanud pärilike ataksıate testimisvõimalusi. Geenipaneeliga on nüüd võimalik testida 148 geeni ja valikut mittekodeerivaid variante, mis on seotud spinotserebellaarse-, episoodilise- ja tserebellaarse ataksiaga. Kordusjärjestuste analüüs hõlmab 14 haigusseoselist geeni. Koopiaarvu muutused on määratavad sekveneerimistulemuste või submikroskoopilise kromosoomianalüüsi abil. Lisaks saab tellida mitokondriaalse genoomi sekveneerimist. Täpsem info www.asperbio.com/asper-neurogenetics-testid/pärilik-ataksia
- [Hereditary ataxia](https://www.asperbio.com/hereditary-ataxia/) - We have expanded our testing options for different types of hereditary ataxia. NGS panel now covers 148 genes and selected non-coding variants associated with spinocerebellar ataxia, episodic ataxia, and cerebellar ataxia. Repeat expansion analysis is available for 14 genes. CNVs are detected based on sequencing data or by Chromosomal Microarray Analysis. Mitochondrial genome sequencing can
- [Asper Neurogenetics News](https://www.asperbio.com/asper-neurogenetics-news-2/) - Dystonia, Charcot-Marie-Tooth disease, and spinocerebellar ataxias panels now include the analysis of disease-associated non-coding variants. Visit www.asperbio.com/asper-neurogenetics to learn more.
- [Katarakti paneel](https://www.asperbio.com/et/katarakti-paneel/) - Katarakti geenipaneelile lisandus 14 uut geeni. Geenide nimekiri on nähtav www.asperbio.com/katarakt/
- [Updated Cataract Panel](https://www.asperbio.com/updated-cataract-panel/) - We have updated the cataract panel with 14 new genes. Visit www.asperbio.com/asper-ophthalmics/cataract-ngs-panel/ for more detailed information.
- [News in Asper Ophthalmics](https://www.asperbio.com/news-in-asper-ophthalmics-congenital-fibrosis-of-extraocular-muscles/) - We now offer a new panel for testing congenital fibrosis of extraocular muscles. In addition, we have updated our comprehensive eye diseases panel to include up to 288 genes. Discover more at www.asperbio.com/asper-ophthalmics
- [Asper Reprogenetics News](https://www.asperbio.com/asper-reprogenetics-news-infertilty-panels/) - Female infertility and male factor infertility panels have undergone an extensive upgrade. The panels now consist of 128 and 138 genes respectively. Female infertility panel also contains testing of CGG trinucleotide repeat in the FMR1 gene. Please see www.asperbio.com/asper-reprogenetics/ for more information.
- [Silmahaiguste geenipaneelid](https://www.asperbio.com/et/silmahaiguste-geenipaneelid-kongenitaalne-okulaarne-fibroos/) - Silmahaiguste testide valikus on uus geenipaneel - kongenitaalse okulaarse fibroosi testimiseks. Lisasime ka uusi geene komplekssele silmahaiguste paneelile, mis nüüd koosneb 288 geenist. Rohkem infot https://www.asperbio.com/et/asper-ophthalmics-testid/
- [Testide uuendused](https://www.asperbio.com/et/asper-reprogenetics-viljatusega-seotud-testid/) - Naise- ja mehepoolse viljatuse geenipaneelid on läbinud põhjaliku uuenduse ja hõlmavad nüüd vastavalt 128 ja 138 geeni sekveneerimist. Naisepoolse viljatuse paneeli kuulub ka CGG trinukleotiidsete kordusjärjestuste analüüs FMR1 geenis. Täpsem info paneelide kohta www.asperbio.com/asper-reprogenetics-testid/
- [Neuroloogiliste testide uuendus](https://www.asperbio.com/et/neuroloogiliste-testide-uuendus/) - Düstoonia, Charcot-Marie-Toothi haiguse ja spinotserebellaarse ataksia geenipaneelid hõlmavad nüüd ka valitud haigusseoseliste mitte-kodeerivate variantide analüüsi. Täpsem info www.asperbio.com/neuroloogia-geenitestid
- [Mukopolüsahharidoosi paneel](https://www.asperbio.com/et/mukopolusahharidoosi-paneel/) - Oleme kokku pannud spetsiifilise geenipaneeli mukopolüsahharidoosi testimiseks. Laialdane lüsosomaalsete ladestushaiguste geenipaneel on samuti testide valikus olemas. Rohkem infot www.asperbio.com/metaboolsed-haigused/
- [Mucopolysaccharidosis panel](https://www.asperbio.com/mucopolysaccharidosis-panel/) - We now offer a new test for Mucopolysaccharidosis. Comprehensive panel for lysosomal storage diseases is also available. Discover more at https://www.asperbio.com/asper-metabolic-disorders/
- [Uuenenud geenipaneelid](https://www.asperbio.com/et/uuenenud-geenipaneelid/) - Mitmed geenipaneelid on läbinud uuenduskuuri, sealhulgas aju anomaaliate, spinotserebellaarsete ataksiate ja sensorineuraalse kuulmislanguse paneel. Täpsem info www.asperbio.com/geenitestid
- [Updated NGS panels](https://www.asperbio.com/updated-ngs-panels/) - Several NGS panels have been updated, including panels for Brain Malformations, Spinocerebellar Ataxias, and Sensorineural Hearing Loss. Find more about updates at www.asperbio.com/NGS-panels
- [Congenital Adrenal Hyperplasia](https://www.asperbio.com/congenital-adrenal-hyperplasia/) - Congenital Adrenal Hyperplasia test includes sequencing and deletion/duplication analysis of the CYP21A2 gene.
- [Kaasasündinud adrenogenitaalne hüperplaasia](https://www.asperbio.com/et/kaasasundinud-adrenogenitaalne-huperplaasia/) - Nüüd on võimalik tellida kaasasündinud adrenogenitaalse hüperplaasia testi, mis hõlmab CYP21A2 geeni kodeeriva regiooni sekveneerimist ja deletsioonide/duplikatsioonide analüüsi. Täpsem info www.asperbio.com/kaasasundinud-adrenogenitaalne-huperplaasia/
- [Mehepoolse viljatuse uuendatud geenipaneel](https://www.asperbio.com/et/mehepoolse-viljatuse-uuendatud-geenipaneel/) - Mehepoolse viljatuse geenipaneel on täienenud AR geeni võrra. Täpsem info testimise kohta www.asperbio.com/asper-reprogenetics/mehepoolne-viljatus/
- [Updated version of Male Factor Infertility panel](https://www.asperbio.com/updated-version-of-male-factor-infertility-panel/) - Male Factor Infertility NGS panel has been updated with the AR gene. Visit www.asperbio.com/asper-reprogenetics/male-factor-infertility/ to see the complete list of genes.
- [Hüpomagneseemia paneel](https://www.asperbio.com/et/hupomagneseemia-paneel/) - Meie testide valikusse on lisandunud hüpomagneseemia geenipaneel. Testimine hõlmab 19 geeni analüüsi, mis on seotud hüpomagneseemia ja seonduvate haigustega. Geenide nimekiri on nähtav www.asperbio.com/asper-nephrology-testid/hupomagneseemia/
- [Asper Reprogenetics news](https://www.asperbio.com/asper-reprogenetics-news/) - We have added Female Infertility NGS panel to our Asper Reprogenetics testing menu. List of genes covered by the panel is available www.asperbio.com/asper-reprogenetics/female-infertility-ngs-panel/
- [Hypomagnesemia NGS panel](https://www.asperbio.com/hypomagnesemia-ngs-panel-news/) - We have launched a new NGS panel for hypomagnesemia. The new panel with CNV analysis is designed to detect 19 genes implicated in hypomagnesemia and related conditions. The list of genes is available www.asperbio.com/asper-nephrology/hypomagnesemia/
- [Naisepoolse viljatuse geenipaneel](https://www.asperbio.com/et/naisepoolse-viljatuse-geenipaneel/) - Asper Reprogenetics testide menüü sisaldab nüüd ka naisepoolse viljatuse geenipaneeli. Geenide nimekirjaga saab tutvuda www.asperbio.com/asper-reprogenetics-testid/naisepoolne-viljatus
- [Informatsioon testimise teenuse jätkumise kohta](https://www.asperbio.com/et/informatsioon-testimise-teenuse-jatkumise-kohta/) - Soovime teile teada anda, et jätkame oma geneetilise testimise teenuse pakkumist ka praeguses COVID-19 tõttu kriitiliseks muutunud situatsioonis. Meie eesmärgiks on jätkuvalt säilitada kõrged kvaliteedistandardid ja pakkuda parimaid molekulaardiagnostika võimalusi patsientide paremaks diagnoosimiseks. Igapäevases töörutiinis järgime Maailma Terviseorganisatsiooni ja Eesti Terviseameti juhiseid oma töötajate ja klientide tervise ja turvalisuse säilitamiseks ning hoidmiseks. Meie laboritöötajad, teadurid
- [Important announcement](https://www.asperbio.com/important-announcement/) - In critical situation, due to COVID-19 faced by many countries we would like to ensure that we continue providing you with genetic testing services. Our key goal is to continuously offer diagnostic solutions that support healthcare professionals with valuable information and thus contribute to improving patient care. We are committed to maintain the highest level
- [Perekondlik Hemipleegiline Migreen](https://www.asperbio.com/et/perekondlik-hemipleegiline-migreen/) - Testide valikus on nüüd uus geenipaneel - perekondlik hemipleegiline migreen. Täpsem info www.asperbio.com/perekondlik-hemipleegiline-migreen/
- [Familial Hemiplegic Migraine](https://www.asperbio.com/familial-hemiplegic-migraine/) - Familial Hemiplegic Migraine NGS panel is now available. Visit www.asperbio.com/familial-hemiplegic-migraine-ngs-panel/ to learn more!
- [Uuendatud mitokondriaalsete haiguste test](https://www.asperbio.com/et/uuendatud-mitokondriaalsete-haiguste-test/) - Mitokondriaalsete haiguste tuumageenide paneel on täienenud mitmete uute geenidega. Geenide nimekiri on nähtav www.asperbio.com/asper-neurogenetics-testid/mitokondriaalsed-haigused/
- [Updated Mitochondrial Diseases test](https://www.asperbio.com/updated-mitochondrial-diseases-test/) - Multiple new genes have been added to our mitochondrial diseases nuclear gene set. Visit www.asperbio.com/asper-neurogenetics/mitochondrial-diseases/ to see the complete list of genes.
- [Epilepsia ja autismi spektri häiretega seotud geenipaneelid](https://www.asperbio.com/et/25382/) - Epilepsia ja autismi spektri häiretega seotud geenipaneele on täiendatud mitmete uute geenidega. Täpsem info www.asperbio.com/asper-neurogenetics-testid/
- [Kardioloogiliste testide täiendus](https://www.asperbio.com/et/kardioloogiliste-testide-taiendus/) - Perekondliku aordi aneurüsmi, dissektsiooni ja seonduvate sündroomide geenipaneeli on täiendatud uute geenidega. Geenide nimekiri on leitav www.asperbio.com/perekondlik-taad/
- [Asper Cardiogenetics update](https://www.asperbio.com/asper-cardiogenetics-update/) - Familial TAAD and related syndromes NGS panel has been updated with new genes. Visit www.asperbio.com/familial-taad-NGS-panel to see the complete list of genes.
- [Epilepsy NGS panel](https://www.asperbio.com/epilepsy-ngs-panel/) - Epilepsy NGS panel now covers the analysis of disease-associated non-coding variants. List of variants is available www.asperbio.com/list-of-non-coding-variants-covered-by-epilepsy-ngs-panel/
- [Epilepsia geenipaneel](https://www.asperbio.com/et/epilepsia-geenipaneel/) - Epilepsia geenipaneel hõlmab nüüd ka haigusseoseliste mittekodeerivate geenivariantide analüüsi. Nimekiri on leitav siit www.asperbio.com/epilepsia-paneeli-mittekodeerivad-geneetilised-variandid/
- [Uued geenipaneelid](https://www.asperbio.com/et/uued-geenipaneelid/) - Testide valikusse on lisandunud kaks uut geenipaneeli - pahaloomuline hüpertermia ja paroksüsmaalne düskineesia. Täpsem info https://www.asperbio.com/asper-neurogenetics/
- [New panels](https://www.asperbio.com/new-panels-in-Asper-Neurogenetics/) - We now offer new panels for malignant hyperthermia and paroxysmal dyskinesia. Discover more at https://www.asperbio.com/asper-neurogenetics/
- [Neuroloogiliste haiguste testide täiendused](https://www.asperbio.com/et/neuroloogiliste-haiguste-testide-taiendused/) - Epilepsia ja autismi spektri häirete geenipaneelid on täienenud WASF1 geeni võrra. Vaata lisa www.asperbio.com/asper-neurogenetics/
- [Updates in Asper Neurogenetics](https://www.asperbio.com/updates-in-asper-neurogenetics-2/) - Panels of epilepsy and autism spectrum disorders have been updated with the WASF1 gene. For more information, visit https://www.asperbio.com/asper-neurogenetics/
- [Mehepoolse viljatuse geenitest](https://www.asperbio.com/male-factor-infertility-test/) - Mehepoolse viljatuse geenitest on läbinud põhjaliku uuenduse. Varem kasutusel olnud mutatsioonianalüüsi asemel sekveneeritakse nüüd 60 spermatogeneesi ja meioosi häiretega seotud geeni kodeerivad alad. Testimine hõlmab endiselt ka Klinefelteri sündroomi ja AZF deletsioonide analüüsi. Uuenenud testi info on saadaval www.asperbio.com/mehepoolne-viljatus/
- [Male Factor Infertility test](https://www.asperbio.com/male-factor-infertility-test/) - Male Factor Infertility test has been upgraded from targeted mutation analysis to NGS panel with 60 genes associated with spermatogenic failure and meiotic arrest. Testing for Klinefelter syndrome and AZF deletions is also available. Visit www.asperbio.com/male-factor-infertility to see the full list of genes.
- [Glükosüülimise kaasasündinud defektid](https://www.asperbio.com/et/glukosuulimise-kaasasundinud-defektid/) - Metaboolsete haiguste testide valik on täienenud uue geenipaneeliga - glükosüülimise kaasasündinud defektid. Uus paneel võimaldab tuvastada patogeenseid muutusi 49 kliiniliselt olulises geenis. Geenide nimekiri ja täpsem info www.asperbio.com/glukosuulimise-kaasasundinud-defektid/
- [New test in Asper Metabolic Disorders menu](https://www.asperbio.com/new-test-in-asper-metabolic-disorders-menu/) - Our latest release is a panel of Congenital Disorders of Glycolysation targeting pathogenic variants in 49 clinically relevant genes. List of genes with more detailed information is available www.asperbio.com/congenital-disorders-of-glycolysation/
- [Kallmanni sündroom](https://www.asperbio.com/et/kallmanni-sundroom/) - Kallmanni sündroomiga seotud geenid on koondatud uude geenipaneeli, mis hõlmab nii üksiknukleotiidsete polümorfismide (SNPid), insertsioonide ja deletsioonide kui ka koopiaarvu muutuste analüüsi (CNVd). Täpsem info www.asperbio.com/kallmanni-sundroom
- [Kallmann Syndrome](https://www.asperbio.com/kallmann-syndrome/) - Genetic testing for Kallmann Syndrome is now available. New gene panel consists of 25 carefully selected genes and includes detection of single nucleotide polymorphisms (SNPs), insertions and deletions, as well as copy number variations (CNVs). Discover more at www.asperbio.com/asper-endocrinology/kallmann-syndrome-ngs-panel/
- [Updated panels in Asper Ophthalmics](https://www.asperbio.com/vitreoretinopathy-panel/) - Updated versions of Vitreoretinopathy and comprehensive Eye Diseases NGS panels are now available. Order here www.asperbio.com/Asper_Ophthalmics_order_form
- [Silmahaiguste paneelide uuendused](https://www.asperbio.com/et/vitreoretinopaatia-2/) - Vitreoretinopaatia ja laiendatud pärilike silmahaiguste geenipaneelid on uuenenud. Täpsem info www.asperbio.com/asper-ophthalmics-testid/
- [News in Asper Neurogenetics](https://www.asperbio.com/news-in-asper-neurogenetics/) - Dystonia and Spinocerebellar Ataxia panels are updated with MECR gene. Visit www.asperbio.com/asper-neurogenetics/ to learn more!
- [Asper Neurogenetics uudised](https://www.asperbio.com/et/asper-neurogenetics-uudised/) - Düstoonia ja spinotserebellaarse ataksia geenipaneelidele on lisatud MECR geen. Täpsem info siin www.asperbio.com/asper-neurogenetics-testid/
- [Päriliku eesnäärmevähi geenipaneel](https://www.asperbio.com/et/pariliku-eesnaarmevahi-geenipaneel/) - Päriliku eesnäärmevähi geenipaneelile on lisatud kolm uut geeni. Geenide nimekiri on nähtav siin www.asperbio.com/eesnäärmevähi-paneel/
- [Updated Prostate Cancer panel](https://www.asperbio.com/updated-prostate-cancer-panel/) - Prostate Cancer panel has been updated with 3 new genes. View the full list of genes www.asperbio.com/prostate-cancer-ngs-panel/
- [Asper Nephrology](https://www.asperbio.com/et/asper-nephrology/) - Pärilike neeruhaiguste testid on koondatud uude testimisportfelli - Asper Nephrology. Uus portfell koosneb nii monogeensete- kui ka komplekshaiguste diagnostikas kasutatavatest geenipaneelidest. Laiendamaks diferentsiaaldiagnostika võimalusi, kasutame testimisel teise põlvkonna sekveneerimist ja koopiaarvu muutuste analüüsi. Täielik nimekiri testidest on leitav https://www.asperbio.com/et/asper-nephrology-testid/
- [Asper Nephrology](https://www.asperbio.com/asper-nephrology/) - We have launched Asper Nephrology testing portfolio to expand our testing menu and cover more clinical areas. The new portfolio includes tests for common monogenic diseases, as well as complex disorders. To establish the genetic cause of renal diseases we use next-generation sequencing technology to accommodate a broad differential diagnosis. CNV analysis based on sequencing data
- [CNV analysis](https://www.asperbio.com/24303/) - We have integrated copy number variation (CNV) detection tool into our everyday workflow. CNV analysis is now available as a new testing option for all NGS panels and whole exome sequencing. View the complete list of all tests www.asperbio.com/genetic-tests/
- [New Offerings in Asper Neurogenetics](https://www.asperbio.com/new-offerings-in-asper-neurogenetics/) - Asper Neurogenetics testing portfolio has been updated with Brunner syndrome test, and CNV analysis for all gene panels. See complete Asper Neurogenetics test menu here https://www.asperbio.com/asper-neurogenetics/
- [Asper Neurogenetics testide täiendused](https://www.asperbio.com/et/asper-neurogenetics-testide-taiendused/) - Asper Neurogenetics testide menüüsse on lisandunud Brunneri sündroomi geenitest ja koopiaarvu muutuste analüüs kõikidele geenipaneelidele. Testide nimekiri on leitav https://www.asperbio.com/et/asper-neurogenetics-testid/
- [Asper Otogenetics News](https://www.asperbio.com/asper-otogenetics-news/) - All NGS panels in Asper Otogenetics testing menu now include CNV analysis. Read more at www.asperbio.com/asper-otogenetics/
- [Deletsioonide/duplikatsioonide analüüs](https://www.asperbio.com/et/asper-otogenetics-news/) - Asper Otogenetics testide valikus olevad geenipaneelid sisaldavad nüüd ka deletsioonide/duplikatsioonide analüüsi. Geenipaneelide nimekirja leiab www.asperbio.com/asper-otogenetics-testid/
- [Uudised kardiovaskulaarsete haigustega seotud testide valikus](https://www.asperbio.com/asper-cardiogenetics-updates/) - Nüüd on võimalik tellida päriliku hemorraagilise teleangiektaasiaga seotud geenide analüüsi. Noonani sündroomi geenipaneel on täienenud uute geenidega ja kannab nime - Noonani spektri haigused/Rasopaatiad. Kõik geenipaneelid Asper Cardiogenetics testide valikus on kaetud teise põlvkonna sekveneerimisel põhineva deletsioonide/duplikatsioonide analüüsiga. Täpsem info https://www.asperbio.com/et/asper-cardiogenetics-testid/
- [Asper Cardiogenetics updates](https://www.asperbio.com/asper-cardiogenetics-updates/) - We now offer an NGS panel for Hereditary Hemorrhagic Telangiectasia. Additionally, Noonan Syndrome test has been upgraded to Noonan Spectrum Disorders/Rasopathies test including several new disease-causing genes. All NGS panels in Asper Cardiogenetics testing menu are covered by CNV analysis based on sequencing data. Visit https://www.asperbio.com/asper-cardiogenetics/ to learn more.
- [Uuenenud Asper Oncogenetics testid](https://www.asperbio.com/updated-asper-oncogenetics-menu/) - Päriliku eesnäärmevähi geenipaneel on lisandunud Asper Oncogenetics testide valikusse. Testimine hõlmab geenipaneeli sekveneerimist ja deletsioonide/duplikatsioonide analüüsi. Ka teised geenipaneelid Asper Oncogenetics valikus sisaldavad nüüd deletsioonide/duplikatsioonide analüüsi. Täpsem info www.asperbio.com/asper-oncogenetics-testid
- [Updated Asper Oncogenetics menu](https://www.asperbio.com/updated-asper-oncogenetics-menu/) - We have updated our Asper Oncogenetics menu. Genetic testing for Prostate Cancer is now available. The testing includes sequencing of the panel of genes and CNV analysis. Other NGS panels in the Asper Oncogenetics menu now also include CNV analysis. View our updated pricelist at www.asperbio.com/Asper Oncogenetics
- [Asper Ophthalmics testide täiendused](https://www.asperbio.com/news-in-asper-ophthalmics-CNV) - NGS paneelide analüüs sisaldab nüüd ka koopiaarvu variatsioonide määramist. Bardet-Biedli sündroomiga seotud geenipaneelile lisandusid kolm uut geeni. Täpsem info www.asperbio.com/asper-ophthalmics-testid
- [News in Asper Ophthalmics](https://www.asperbio.com/news-in-asper-ophthalmics-CNV) - We are pleased to announce that our NGS panels now include CNV analysis. In addition, three new genes have been added to the Bardet-Biedl Syndrome panel. Visit www.asperbio.com/asper-ophthalmics to learn more about our new testing options and see the updated price list.
- [News in Asper Ophthalmics](https://www.asperbio.com/news-in-asper-ophthalmics) - NGS panel for Ectopia Lentis is now available. Visit www.asperbio.com/ectopia-lentis to read more.
- [Neuroloogiliste haigustega seotud testide uuendused](https://www.asperbio.com/updates-in-asper-neurogenetics/) - Uued geenid lisandusid mitmetele neuroloogiliste haigustega seotud testidele, näiteks Charcot-Marie-Toothi haigus, frontotemporaalne dementsus ja Parkinsoni tõbi. Täpsem info https://www.asperbio.com/et/asper-neurogenetics-testid/
- [Updates in Asper Neurogenetics](https://www.asperbio.com/updates-in-asper-neurogenetics/) - We have updated several neurological panels, including Charcot-Marie-Tooth Disease, Frontotemporal Dementia, and Parkinson’s Disease. Please see https://www.asperbio.com/asper-neurogenetics/ for more information.
- [Spinotserebellaarsete ataksiate geenipaneel](https://www.asperbio.com/spinocerebellar-ataxia-panel/) - Lisasime 14 uut geeni spinotserebellaarsete ataksiatega seotud geenipaneelile. Täpsem info www.asperbio.com/spinotserebellaarne-ataksia
- [Spinocerebellar Ataxia Panel](https://www.asperbio.com/spinocerebellar-ataxia-panel/) - We have added 14 new disease-causing genes to our spinocerebellar ataxia panel. Discover more at www.asperbio.com/spinocerebellar-ataxia/
- [Läätse väärasetsuse geenipaneel](https://www.asperbio.com/news-in-asper-ophthalmics) - Lisasime oma testide valikusse läätse väärasetsusega seotud geenipaneeli. Täpsem info www.asperbio.com/laatse-vaarasetsus/
- [New offerings in neurology](https://www.asperbio.com/new-offerings-in-neurology/) - We have launched an updated Asper Neurogenetics menu. Genetic testing for Congenital Myasthenic Syndrome is now available, as well as updated version of Epilepsy panel. Learn more at www.asperbio.com/asper-neurogenetics
- [Neuroloogiliste testide täiendus](https://www.asperbio.com/new-offerings-in-neurology/) - Valikusse on lisandunud kaasasündinud müasteenilise sündroomiga seotud geenide analüüs. Lisaks on epilepsia geenipaneel täienenud 60 geeni võrra. Rohkem infot www.asperbio.com/asper-neurogenetics-testid
- [Geenipaneel koagulatsiooni häirete testimiseks](https://www.asperbio.com/ngs-panel-for-coagulation-disorders/) - Lisasime oma menüüsse koagulatsiooni häiretega seotud geenitesti. Test hõlmab 17 geeni analüüsi, mis on seotud erinevate koagulatsiooni häiretega. Geenide nimekiri on saadaval www.asperbio.com/koagulatsiooni-hairetega-seotud-geenide-sekveneerimine
- [NGS panel for Coagulation Disorders](https://www.asperbio.com/ngs-panel-for-coagulation-disorders/) - We have added a panel of Coagulation Disorders to our testing menu. The test consists of 17 genes associated with a wide variety of coagulation abnormalities. More details can be found www.asperbio.com/coagulation-disorders
- [Onkoloogiliste testide täiendus](https://www.asperbio.com/asper-oncogenetics-update/) - Nüüd on võimalik tellida Von Hippel-Lindau sündroomiga seotud VHL geeni sekveneerimist. Rohkem infot www.asperbio.com/von-hippel-lindau-sundroom
- [Asper Oncogenetics update](https://www.asperbio.com/asper-oncogenetics-update/) - Von Hippel-Lindau Disease testing by sequencing of the VHL gene is now available. Please see www.asperbio.com/von-hippel-lindau-disease/ for more information.
- [Nahahaigustega seotud geenitestid](https://www.asperbio.com/asper-dermatology/) - Asper Biogene on loonud uue testide portfelli pärilike nahahaiguste testimiseks. Uued testid on abiks ka kattuvate sümptomitega haiguste diferentsiaaldiagnostikas. Uued geenipaneelid ja tellimisinfo on saadaval www.asperbio.com/asper-dermatology-testid/
- [Asper Dermatology](https://www.asperbio.com/asper-dermatology/) - We are proud to announce a brand new testing menu - Asper Dermatology, which includes gene panels targeting the diagnostics of different skin related inherited disorders. New panels also facilitate differential diagnosis of diseases with overlapping features. Visit www.asperbio.com/asper-dermatology/ to find out more.
- [Asper Dysmorphology uued testid](https://www.asperbio.com/new-tests-in-asper-dysmorphology-testing-menu/) - Meie testide valikus on kaks uut geenipaneeli. Ebatäiusliku luutekke (osteogenesis imperfecta) test katab 20 geeni analüüsi ja Frazeri sündroomi test kolme haigusega seotud geeni analüüsi. Täpsem info www.asperbio.com/asper-dysmorphology-testid
- [New tests in Asper Dysmorphology testing menu](https://www.asperbio.com/new-tests-in-asper-dysmorphology-testing-menu/) - We have launched a panel of 20 genes to test for Osteogenesis Imperfecta and a panel of 3 genes for Frazer Syndrome testing. Find more at www.asperbio.com/asper-dysmorphology
- [Primary Ciliary Dyskinesia NGS panel](https://www.asperbio.com/primary-ciliary-dyskinesia-ngs-panel/) - Genetic testing for primary ciliary dyskinesia is now available. The test includes analysis of 35 genes associated with different types of disease. Read more at www.asperbio.com/primary-ciliary-dyskinesia
- [Primaarse tsiliaarse düskineesia geenipaneel](https://www.asperbio.com/primary-ciliary-dyskinesia-ngs-panel/) - Meie testide valikus on nüüd primaarse tsiliaarse düskineesia geenitest, mis hõlmab 35 haigusega seotud geeni analüüsi. Täpsem info testi kohta www.asperbio.com/primaarne-tsiliaarne-duskineesia/
- [Silmahaiguste testid on uuenenud](https://www.asperbio.com/updates-in-asper-ophthalmics/) - Kolvikeste-kepikeste düstroofia, vitelliformse maakuli düstroofia ja põhjalik silmahaiguste geenipaneel on täienenud mitmete uute geenidega. Põhjalik silmahaiguste test koosneb nüüd 238 haigusseoselisest geenist. Testide valikusse lisandus ka uus paneel Senior-Loken sündroomiga seotud geenide analüüsiks. Täpsem info www.asperbio.com/asper-ophthalmics-testid/
- [Updates in Asper Ophthalmics](https://www.asperbio.com/updates-in-asper-ophthalmics/) - Asper Ophthalmics testing menu has been updated with Senior-Loken Syndrome gene panel. We have also added a number of genes to Cone-Rod Dystrophy, Vitelliform Macular Dystrophy, and comprehensive eye diseases panels. Comprehensive eye diseases panel now covers 283 genes associated with different eye disorders. View updated testing options at www.asperbio.com/asper-ophthalmics/
- [Asper Cardiogenetics testimisvõimalused on uuenenud](https://www.asperbio.com/latest-updates-in-asper-cardiogenetics/) - We have added Ehlers-Danlos Syndrome panel to our Asper Cardiogenetics testing menu. In addition, Noonan Syndrome panel has been updated with LZTR1 gene.
- [Latest updates in Asper Cardiogenetics](https://www.asperbio.com/latest-updates-in-asper-cardiogenetics/) - We have added Ehlers-Danlos Syndrome panel to our Asper Cardiogenetics testing menu. In addition, Noonan Syndrome panel has been updated with LZTR1 gene.
- [Metaboolse müopaatia ja rabdomüolüüsi geenipaneel](https://www.asperbio.com/new-version-of-metabolic-myopathy-and-rhabdomyolysis-gene-panel/) - Metaboolse müopaatia ja rabdomüolüüsiga seotud deenide analüüs hõlmab nüüd ka SCN4A geeni sekveneerimist.
- [New version of Parkinson’s Disease test now available](https://www.asperbio.com/new-version-of-parkinsons-disease-test-now-available/) - Asper Biogene has added 10 new genes to our Parkinson’s Disease gene panel.
- [Parkinsoni tõve geenitest](https://www.asperbio.com/new-version-of-parkinsons-disease-test-now-available/) - Parkinsoni tõve geenitest võimaldab nüüd analüüsida 32 haigusega seotud geeni.
- [Hüpertroofilise kardiomüopaatia geenipaneel](https://www.asperbio.com/hypertrophic-cardiomyopathy-ngs-panel/) - Hüpertroofilise kardiomüopaatia testi uus täiendatud versioon on nüüd saadaval.
- [Hypertrophic Cardiomyopathy NGS panel](https://www.asperbio.com/hypertrophic-cardiomyopathy-ngs-panel/) - Updated version of Hypertrophic Cardiomyopathy gene panel is now available.
- [New version of Metabolic Myopathy and Rhabdomyolysis gene panel](https://www.asperbio.com/new-version-of-metabolic-myopathy-and-rhabdomyolysis-gene-panel/) - Metabolic Myopathy and Rhabdomyolysis NGS panel has been updated with the SCN4A gene.
- [Päriliku vähi eelsoodumuse test](https://www.asperbio.com/updated-cancer-predisposition-panel/) - Päriliku vähi eelsoodumuse test on täienenud kümne uue geeni võrra.
- [Updated Cancer Predisposition Panel](https://www.asperbio.com/updated-cancer-predisposition-panel/) - Cancer Predisposition NGS panel has been updated with 10 new genes.
- [Asper Biogene at EAN Congress 2018](https://www.asperbio.com/asper-biogene-at-ean-congress-2018/) - We will be attending the 4th Congress of the European Academy of Neurology in Lisbon, 16-19 June. Do not miss the opportunity to get informed about recent developments and news in clinical neurology. Stop by the exhibition hall to learn about Asper Neurogenetics tests and get acquainted with our experts. Looking forward to meeting you
- [Euroopa Neuroloogia Akadeemia kongress](https://www.asperbio.com/et/euroopa-neuroloogia-akadeemia-kongress/) - Asper Biogene osaleb Euroopa Neuroloogia Akadeemia 4. kongressil Lissabonis, 16.-19. juunil. Kel samuti plaanis kongressi külastada, siis olete oodatud läbi astuma meie boksist nr C24! Kõik Asper Neurogenetics testid on esindatud.
- [Arütmogeenne parema vatsakese düsplaasia](https://www.asperbio.com/et/arutmogeenne-parema-vatsakese-dusplaasiakardiomuopaatia/) - Arütmogeenne parema vatsakese düsplaasia/kardiomüopaatia test hõlmab 14 haigusseoselise geeni sekveneerimist.
- [Cornelia de Lange Syndrome NGS panel](https://www.asperbio.com/cornelia-de-lange-syndrome-ngs-panel/) - We have updated Cornelia de Lange Syndrome NGS panel with four new genes.
- [Parkinsoni tõve testi uuendus](https://www.asperbio.com/updated-version-of-parkinsons-disease-test/) - Lisasime Parkinsoni tõve geenipaneelile kaks uut geeni. Samuti saab nüüd tellida deletsioonide/duplikatsioonide analüüsi mitmetele haigusega seotud geenidele.
- [Updated version of Parkinson’s Disease test](https://www.asperbio.com/updated-version-of-parkinsons-disease-test/) - We have updated Parkinson’s disease NGS panel with two new genes.
- [Jäsemevöötme lihasdüstroofia](https://www.asperbio.com/limb-girdle-muscular-dystrophy/) - Testide menüüsse on lisandunud jäsemevöötme lihasdüstroofia test.
- [Limb-Girdle Muscular Dystrophy](https://www.asperbio.com/limb-girdle-muscular-dystrophy/) - Comprehensive Limb-Girdle Muscular Dystrophy (LGMD) test is now available.
- [Kaasasündinud ja distaalne müopaatia](https://www.asperbio.com/et/kaasasundinud-ja-distaalne-muopaatia/) - Meie testide valikusse on lisandunud geenipaneel kaasasündinud ja distaalse müopaatia testimiseks.
- [Follow us on Twitter](https://www.asperbio.com/follow-us-on-twitter/) - It is a new and exciting year full of great progress for Asper Biotech and we do all that for you dear customers and partners. Sometimes tiny details around the activities may remain unnoticed from you despite they might matter for you, therefore we decided to open up a Twitter account[at]asperbiotech. We will use this
- [Next generation sequencing services out now](https://www.asperbio.com/next-generation-sequencing-services-out-now/) - Next-generation sequencing (NGS) technologies have improved throughout the years as rapid, high-throughput and cost-effective approaches to fulfil medical sciences and research demands. Asper Biotech has now implemented Illumina MiSeq to it’s routine workflow and offers a variety of NGS services in it’s CLIA certified laboratory. The list of services can be found from Asper Biotech's
- [Paternity testing service launched](https://www.asperbio.com/paternity-testing-service-launched/) - Our latest release is a 16-marker genetic analysis panel for paternity testing. Results of the test enable confirmation of biological father-child relationship. Sample collection procedure with buccal swab makes it easy to perform and guarantees reliable material for lab analysis. Blood samples can also be sent for paternity testing. The test results are available in
- [Olympics Offer](https://www.asperbio.com/olympics-offer/) - Since there are five Olympic rings we lowered the price for Asper Biotech's sports test by five Euros - one Euro for each ring.
- [15 years in genetics − 15% discount for NextGen](https://www.asperbio.com/15-years-in-genetics−15-discount-for-nextgen) - By celebrating its 15th anniversary and honoring new technologies Asper Biotech is offering 15% discount from all Next Generation Sequencing tests during its birthday month from 17th of March to 17th of April.
- [Genetic consultation](https://www.asperbio.com/genetic-consultation/) - We are offering pre- and post-test genetic consultation to referring physicians and health-care professionals
- [Congenital Myopathy and Distal Myopathy NGS panel](https://www.asperbio.com/congenital-myopathy-and-distal-myopathy-ngs-panel/) - Congenital Myopathy and Distal Myopathy NGS panel has been added to Asper Neurogenetics portfolio.
- [Deletsioonide/duplikatsioonide analüüs](https://www.asperbio.com/del-dup-analysis/) - Lisaks geenipaneelidele saab nüüd paljude testide puhul tellida ka deletsioonide/duplikatsioonide analüüsi.
- [Del/dup analysis](https://www.asperbio.com/del-dup-analysis/) - Del/dup analysis can now be ordered in addition to NGS panels
- [Vitreoretinopaatia](https://www.asperbio.com/vitreoretinopathy/) - Asper Ophthalmics testide nimekirja on lisandunud vitreoretinopaatia paneel, mis koosneb 19 geenist.
- [Vitreoretinopathy](https://www.asperbio.com/vitreoretinopathy/) - Vitreoretinopathy NGS panel with 19 genes has been added to Asper Ophthalmics testing portfolio.
- [Asper Hematology testide valik uuenes](https://www.asperbio.com/new-test-in-asper-hematology/) - Geenipaneel päriliku sideroblastilise aneemia testimiseks on nüüd saadaval.
- [New test in Asper Hematology](https://www.asperbio.com/new-test-in-asper-hematology/) - Hereditary Sideroblastic Anemia NGS panel is now available.
- [Leukodüstroofia ja leukoentsefalopaatia geenipaneel](https://www.asperbio.com/et/leukodustroofia-ja-leukoentsefalopaatia-geenipaneel/) - Leukodüstroofia ja leukoentsefalopaatia 40 geenist koosnev test on nüüd saadaval.
- [Leukodystrophy and Leukoencephalopathy NGS panel](https://www.asperbio.com/leukodystrophy-and-leukoencephalopathy-ngs-panel/) - Leukodystrophy and Leukoencephalopathy NGS panel of 40 genes is now available.
- [End-of-Year Price Reduction!](https://www.asperbio.com/end-of-year-price-reduction/) - All our catalogue prices will be reduced by 10% for the next two months. Use the great opportunity and make sure to place your order before January 31, 2018.
- [Metaboolsete haiguste geenitestid](https://www.asperbio.com/et/metaboolsete-haiguste-geenitestid/) - Uus testide menüü - Asper Metabolic Disorders - pakub nii ühe geeni sekveneerimist hõlmavaid teste kui ka mitmetest geenidest koosnevaid geenipaneele.
- [Asper Metabolic Disorders](https://www.asperbio.com/asper-metabolic-disorders/) - Asper Biogene is pleased to introduce our new testing portfolio of metabolic disorders.
- [New tests in Asper Cardiogenetics](https://www.asperbio.com/new-tests-in-asper-cardiogenetics/) - We have expanded our selection of cardiovascular genetic tests to include tests for different types of dyslipidemias, cardiomyopathies, and arrhythmias. 
- [Asper Cardiogenetics uued testid](https://www.asperbio.com/new-tests-in-asper-cardiogenetics/) - Kardiovaskulaarsete haiguste geneetiliste testide valik on saanud täiendust erinevat tüüpi düslipideemiate, kardiomüopaatiate ja arütmiatega seotud testidega.
- [Skeleti düsplaasiatega seotud tsiliopaatiad](https://www.asperbio.com/et/skeleti-dusplaasiatega-seotud-tsiliopaatiad/) - Asper Düsmorfoloogia testide portfell sisaldab nüüd geenipaneeli skeleti düsplaasiatega seotud tsiliopaatiate testimiseks.
- [Skeletal Ciliopathies](https://www.asperbio.com/skeletal-ciliopathies/) - Asper Dysmorphology now includes NGS panel for the diagnostics of skeletal ciliopathies.
- [Asper Endocrinology testide valik nüüd saadaval](https://www.asperbio.com/et/asper-endocrinology-testide-valik-nuud-saadaval/) - Asper Endocrinology testide valik sisaldab teste nii monogeensete kui komplekssete pärilike endokriinhaiguste diagnostikaks.
- [Asper Endocrinology now launched](https://www.asperbio.com/asper-endocrinology-now-launched/) - Asper Endocrinology testing selection is designed for the diagnostics of both monogenic, and complex hereditary endocrine disorders.
- [Autismi spektri häired](https://www.asperbio.com/et/autismi-spektri-haired/) - Autismi spektri häireid saab testida uue geenipaneeli abil, mis hõlmab 62 geeni analüüsi.
- [Autism Spectrum Disorders](https://www.asperbio.com/autism-spectrum-disorders/) - New multigene panel enables testing of autism spectrum disorders by next generation sequencing of 62 genes.
- [Melanoomi geenipaneel](https://www.asperbio.com/et/melanoomi-geenipaneel/) - Geenipaneel päriliku melanoomi testimiseks
- [Melanoma NGS panel](https://www.asperbio.com/melanoma-ngs-panel/) - Melanoma NGS panel is now available.
- [CMT panel](https://www.asperbio.com/cmt-panel/) - CMT NGS panel has been upgraded with the following genes: ARSA, HINT1, HSPB3, KIF1A, NGF, SCN9A, SLC5A7, SPTLC1, SPTLC2, TGF, TYMP, WNK1. 
- [CMT geenipaneel](https://www.asperbio.com/et/cmt-geenipaneel/) - Täiendasime CMT testi järgmiste geenidega: ARSA, HINT1, HSPB3, KIF1A, NGF, SCN9A, SLC5A7, SPTLC1, SPTLC2, TGF, TYMP, WNK1. 
- [Asper Biogene omandas Asper Biotechi](https://www.asperbio.com/et/asper-biogene-omandas-asper-biotechi/) - Anname oma klientidele ja koostööpartneritele teada, et ettevõtte Asper Biotech AS on omandanud Asper Biogene OÜ. Ettevõtte tegevus ja koostöösuhted jätkuvad tavapärastel tingimustel ning omaniku vahetus ei too kaasa muutusi teenuste osutamise kvaliteedis ega tööprotsessis. Ettevõtte korporatiivne identiteet uueneb lähiajal.
- [Management news](https://www.asperbio.com/management-news/) - We wish to inform our clients and partners that Asper Biotech has been acquired by Asper Biogene LLC and is therefore under new management. The business and day-to-day operations will continue to be conducted as usual and the change in ownership will not bring about any changes to client relationships and processes. Corporate identity of
- [Trombotsüptopeenia NGS paneel](https://www.asperbio.com/et/trombotsuptopeenia-ngs-paneel/) - Asper Hematology testide valikus on uus test - trombotsütopeenia paneel 14 geeni sekveneerimisega.
- [Thrombocytopenia NGS panel](https://www.asperbio.com/thrombocytopenia-ngs-panel/) - Asper Hematology testing portfolio now includes thrombocytopenia NGS panel of 14 genes.
- [Arrhythmogenic Right Ventricular Dysplasia](https://www.asperbio.com/arrhythmogenic-right-ventricular-dysplasiacardiomyopathy/) - Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy testing by NGS panel of 14 genes
- [EUROMIT 2017](https://www.asperbio.com/euromit-2017/) - 11.-15. juunil toimus Kölnis mitokondriaalsete haiguste teemaline rahvusvaheline konverents. Meie geneetik dr Kairit Joost esitles konverentsil postrit "Mitokondriaalse genoomi sekveneerimise tulemuslikkus mitokondriaalsete haiguste kahtluse korral".
- [Asper Biotech 18](https://www.asperbio.com/et/asper-biotech-17/) - Asper Ophthalmicsi valikusse on lisandunud geenipaneelid katarakti ja silma väärarendite testimiseks ning üksikute geenide analüüsid Norrie haiguse ja papillorenaalse sündroomi testimiseks.
- [EUROMIT 2017](https://www.asperbio.com/euromit-2017/) - International meeting on mitochondrial pathology was held in Cologne, 11-15 June. Poster “Effectiveness of the whole mitochondrial DNA sequencing in patients with suspected mitochondrial disorder” was presented by our clinical geneticist Dr Kairit Joost at the meeting.
- [Whole Genome Sequencing](https://www.asperbio.com/19612/) - Whole Genome Sequencing We have extended our testing options to whole genome sequencing (WGS). WGS is the most comprehensive tool for identifying the full range of genetic variations. Including the non-coding regions of the genome in the analysis can considerably improve the diagnosing of genetically and phenotypically heterogeneous diseases. Our high quality data and thorough
- [Asper Biotech 18 years](https://www.asperbio.com/asper-biotech-18-years/) - Asper Ophthalmics has been updated with several new tests inquired by our customers. These include NGS panels for anophthalmia/microphthalmia/coloboma/anterior segment dysgenesis and cataract as well as single gene sequencing for Norrie Disease and papillorenal syndrome
- [Fanconi aneemia ja kilpnäärmevähi testid](https://www.asperbio.com/et/fanconi-aneemia-ja-kilpnaarmevahi-testid/) - Asper Oncogenetics testide valik on uuenenud Fanconi aneemia ja kilpnäärmevähi analüüside osas.
- [Fanconi Anemia and Thyroid Cancer](https://www.asperbio.com/fanconi-anemia-and-thyroid-cancer/) - We have upgraded Asper Oncogenetics testing portfolio with NGS panels for Fanconi anemia and thyroid cancer diagnostics.
- [Pulmonaalhüpertensioon](https://www.asperbio.com/et/pulmonaalhupertensioon/) - Uus test katab seitsme pulmonaalhüpertensiooniga seotud geeni analüüsi.
- [Uued Asper Neurogenetics testid](https://www.asperbio.com/et/uued-asper-neurogenetics-testid/) - Asper Neurogenetics testidele lisandus kaks uut testi - Jouberti sündroom ja ajukoe raualadestusega seotud neurodegeneratsioon.
- [Pulmonary Arterial Hypertension](https://www.asperbio.com/pulmonary-arterial-hypertension/) - New NGS panel covers the analysis of 7 genes associated with pulmonary arterial hypertension.
- [Rare Disease Day](https://www.asperbio.com/rare-disease-day/) - Asper Biotech’s representative is attending a roundtable discussion at the Parliament of Estonia.
- [PREDICTION-ADR Consortium Meeting](https://www.asperbio.com/prediction-adr-consortium-meeting/) - PREDICTION-ADR project close-out meeting was held this week in Tallinn.
- [New tests in Asper Neurogenetics](https://www.asperbio.com/new-tests-in-asper-neurogenetics/) - Two new NGS panels are now available - Joubert Syndrome and Neurodegeneration with Brain Iron Accumulation.
- [Uuendatud Charcot-Marie-Toothi haiguse test](https://www.asperbio.com/upgraded-panel-for-charcot-marie-tooth-disease/) - Senise 33 geeni asemel katab uuendatud test 56 geeni sekveneerimist. Lisandunud on nii haiguse erinevate vormidega seotud geenid kui ka teiste neuropaatiatega seotud geenid.
- [Upgraded panel for Charcot-Marie-Tooth Disease](https://www.asperbio.com/upgraded-panel-for-charcot-marie-tooth-disease/) - NGS panel now includes 56 genes associated with different types of Charcot-Marie-Tooth Disease and also other neuropathies.
- [Clinical interpretation of your genetic data](https://www.asperbio.com/clinical-interpretation-of-your-genetic-data/) - We provide bioinformatic analysis and interpretation of your genetic data.
- [Expanded Dystonia Panel](https://www.asperbio.com/expanded-dystonia-panel/) - Dystonia NGS panel has been improved with 29 genes, the new upgraded version now includes 39 genes related to different types of dystonia and several syndromes with clinical features of dystonia.
- [Extensive epilepsy NGS panel](https://www.asperbio.com/extensive-epilepsy-ngs-panel/) - The panel covers sequencing of 128 genes associated with different forms of epilepsy, including epileptic encephalopathies, genetic generalized and focal epilepsy syndromes, and related neurodevelopmental conditions.
- [Glaucoma and Retinoblastoma tests now available](https://www.asperbio.com/glaucoma-and-retinoblastoma-tests-now-available/) - We have launched two new tests in Asper Ophthalmics portfolio - NGS panel for testing different types of glaucoma and RB1 gene sequencing for the diagnostics of retinoblastoma.
- [Asper Biotech at ESHG 2016, in Barcelona](https://www.asperbio.com/asper-biotech-at-eshg-2016-in-barcelona/) - We are glad to invite you to meet our staff at ESHG 2016 (stand #250) in Barcelona, May 21-23.
- [New NGS panels in Asper Neurogenetics portfolio](https://www.asperbio.com/new-ngs-panels-in-asper-neurogenetics-portfolio/) - Frontotemporal dementia, Parkinson disease and dystonia gene panels are now listed in the neurogenetics testing menu.
- [17 years in genetics](https://www.asperbio.com/17-years-in-genetics/) - Today Asper Biotech is celebrating it’s 17th year in the field of genetics.
- [Hypertrophic Cardiomyopathy panel now available](https://www.asperbio.com/hypertrophic-cardiomyopathy-panel-now-available/) - New NGS panel enables analysis of 28 genes known to be associated with hypertrophic cardiomyopathy
- [Asper Neurogenetics new panels](https://www.asperbio.com/new-panels) - New gene panels for craniosynostosis, hereditary spastic paraplegia, and spinocerebellar ataxia are now available
- [NGS panels with shorter TAT](https://www.asperbio.com/ngs-panels-with-shorter-tat/) - We have shortened turnaround times for all NGS panels in order to provide better and faster services to our customers.
- [CTCTrap meeting](https://www.asperbio.com/ctctrap-meeting/) - Progress meeting of the CTCTrap consortium was held in Tallinn, 8-9 Sept.
- [PREDICTION-ADR plenary meeting](https://www.asperbio.com/prediction-adr-plenary-meeting/) - The second plenary meeting of the PREDICTION-ADR consortium was held in Uppsala, September 15 and 16, 2015.
- [Asper Otogenetics](https://www.asperbio.com/new-testing-menu/) - Sensorineural hearing loss testing panels are now included into Asper Otogenetics portfolio, which also contains tests for diagnostics of numerous syndromes related to sensorineural and conductive hearing loss. Our multi-gene panels provide clinicians valuable tool for accurate differential diagnosis of syndromes with a similar phenotypic spectrum.
- [New testing portfolios](https://www.asperbio.com/new-testing-portfolios/) - Asper Biotech is glad to launch several new testing portfolios – Asper Cardiogenetics, Asper Neurogenetics, and Asper Wellness.
- [Asper Biotech at ESHG 2015](https://www.asperbio.com/asper-biotech-at-eshg-2015/) - Visit Asper Biotech at ESHG 2015 (stand #644) in Glasgow, June 6-9.
- [Expanded AMD panel](https://www.asperbio.com/expanded-amd-panel/) - The updated next generation sequencing panel now comprises 21 genes associated with AMD.
- [Asper Biotech on CE biotech.com](https://www.asperbio.com/asper-biotech-on-ce-biotech-com/) - Eneli Oitmaa, the CEO of Asper Biotech gives an interview to the CE biotech.com about the current situation in genetic testing services in Asper Biotech and also company’s future perspectives in biotechnology market.
- [Updated Noonan Syndrome Panel](https://www.asperbio.com/updated-noonan-syndrome-panel/) - NGS panel now includes 13 genes associated with Noonan syndrome and Noonan spectrum disorders
- [Charcot-Marie-Tooth Disease and Menkes Disease tests now available](https://www.asperbio.com/charcot-marie-tooth-disease-and-menkes-disease-tests-now-available/) - Asper Biotech now offers NGS panel of 30 genes known to cause Charcot-Marie-Tooth Disease and ATP7A gene sequencing associated with Menkes disease.
- [Updated Stargardt disease APEX panel](https://www.asperbio.com/updated-stargardt-disease-apex-panel/) - Stargardt Disease APEX micoarray now detects 647 mutations in ABCA4 gene.
- [Expanded NGS panels](https://www.asperbio.com/expanded-ngs-panels/) - New genes have been added to NGS panels of Usher syndrome, Leber congenital amaurosis and Skeletal dysplasia.
- [Shorter TAT for NGS gene panels](https://www.asperbio.com/shorter-tat-for-ngs-gene-panels/) - From now on TAT is 8 weeks for genotyping and 12 weeks for diagnostic package service for all NGS panels.
- [PREDICTION-ADR Meeting](https://www.asperbio.com/prediction-adr-meeting/) - The first annual plenary meeting of the PREDICTION-ADR consortium was held in Utrecht on September 9th and 10th, 2014. Prediction-ADR aims to discover the genetic factors predisposing patients to adverse drug reactions from cardiovascular disease drugs. The meeting was focused on the planning of recruiting cases and controls for the ACEi induced angioedema and statin
- [Updated Results Report for Athletic Performance Test](https://www.asperbio.com/updated-results-report-for-athletic-performance-test/) - Meeting our customers’ wishes we have changed the way our athletic performance test results are presented. With the new design the test report is much easier to understand and follow.
- [DNA testing in Asper Biotech](https://www.asperbio.com/dna-testing-in-asper-biotech/) - Get familiar how DNA testing is performed in Asper Biotech’s laboratory. The testing process from sample collection until results reporting will be displayed in this video. httpvh://www.youtube.com/watch?v=o7XUpAWvMXs
- [ISO 15189:2008 Accreditation Announcement ](https://www.asperbio.com/iso-151892008-accreditation-announcement/) - As a result of systematical improvement of our testing quality, Asper Biotech is now pleased to announce receiving the accreditation for EVS-EN ISO 15189:2008 standard (certificate no L259). The certificate shows the laboratory’s competence and capability to meet the highest standards in clinical testing.
- [New tests in Asper Ophthalmics portfolio](https://www.asperbio.com/new-tests-in-asper-ophthalmics-portfolio/) - To meet our customers’ needs we have expanded Asper Ophthalmics testing portfolio with two new tests for Choroideremia and X-Linked Retinoschisis.
- [15% introductory discount on Male Infertility Test](https://www.asperbio.com/15-introductory-discount-on-male-infertility-test/) - Male Infertility Test is available with 15% introductory discount until June 6. The most prevalent genetic factors causing male infertility are simultaneously tested with the test providing valuable knowledge for treatment planning.
- [New version of Ashkenazi Jewish diseases microchip](https://www.asperbio.com/new-version-of-ashkenazi-jewish-diseases-microchip/) - An updated version of the APEX chip includes mutations in BRCA1, BRCA2, and LCA5 genes common in the Ashkenazi Jewish population.
- [Asper Biotech at the ESHG 2014](https://www.asperbio.com/asper-biotech-at-the-eshg-2014/) - Asper Biotech will present their recently launched tests for diagnostics of male factor infertility and celiac disease at the European Human Genetics Conference in Milan.
- [Asper Biotech launches Male Factor Infertility Test](https://www.asperbio.com/asper-biotech-launches-male-factor-infertility-test/) - Male Factor Infertility Test combines APEX assay and PCR-based testing to detect the most prevalent genetic factors causing male infertility, such as Klinefelter syndrome; AZF-microdeletions; mutations in the CFTR gene; genes involved in folate metabolism; cryptorchidism, hypogonadism and spermatogenic failure linked genes as well as polymorphisms in the androgen receptor gene.
- [Asper Biotech’s new collaboration project ](https://www.asperbio.com/asper-biotech’s-new-collaboration-project/) - Asper Biotech is participating in a new collaboration project PREDICTION-ADR - Personalisation of tREatment In Cardiovascular disease through next generation sequencing in Adverse Drug Reactions. The new European-wide study led by the University of Dundee is set to investigate whether genetic research could be used to predict the side effects of statins and ACE inhibitors.
- [DNA Analysis in Russian language](https://www.asperbio.com/dna-analysis-in-russian-language/) - For those of you who are fluent in Russian we have a pleasant news about our animation - it is now also available in Russian. Please visit http://www.youtube.com/ in order to take a look at the whole process with text in Russian language. However it must be emphasised that APEX is only one of the technologies
- [Season Greetings from Asper Biotech](https://www.asperbio.com/season-greetings-from-asper-biotech/)
- [Asper Biotech at the Koira 2013](https://www.asperbio.com/asper-biotech-at-the-koira-2013/) - Asper Biotech is participating at the Finland’s biggest dog event Koira 2013 from the 13 to 15th December in Helsinki. You are welcome to visit our booth # M28 at the Helsinki Exhibition and Convention Centre. Next to presenting our Animal Genetics portfolio will be launching also, several brand new DNA tests for Labrador Retrievers, Beagle Dogs as well as other breeds.
- [Panel of Mitochondrial Diseases at Asper Biotech](https://www.asperbio.com/panel-of-mitochondrial-diseases-at-asper-biotech/) - A new testing panel targeted to mitochondrial diseases is now available. The testing panel combines NGS, Sanger sequencing, and aCGH technology to examine alterations in mitochondrial genes, as well as in nuclear genes associated with mitochondrial disorders. The tests can be ordered separately or as a set of several tests according to specific indications. Ordering the set of tests gives 10% discount from the total price. Learn more: https://www.asperbio.com/mitochondrial-diseases
- [Asper Biotech at MiSeq Day](https://www.asperbio.com/asper-biotech-at-miseq-day/) - Asper Biotech’s scientist Piret Põiklik gives a presentation at MiSeq Day in Helsinki on Monday 2nd December. The presentation will focus on implementation of Illumina TruSight Exome assay in a routine laboratory setting. The meeting held by Illumina Ltd is targeted on the multitude of different applications for the MiSeq.
- [Christmas present for new customers](https://www.asperbio.com/christmas-present-for-new-customers/) - To welcome all our new customers Asper Biotech is offering you a nice -10% discount from all price list services. Just take your samples, fill in the submission form and send them to us. The offer period starts now and lasts till the end of 31st of December 2013.
- [Asper Biotech announces a new carrier test for Hutterite population](https://www.asperbio.com/asper-biotech-announces-a-new-carrier-test-for-hutterite-population/) - The new carrier test aims to detect the most common mutations associated with autosomal recessive disorders in the Hutterite population. The test can be used in population-based carrier screening for 30 different syndromes. Carrier testing is vital for counseling individuals with a family history of severe diseases in order to assess reproductive risks.
- [DNA analysis using the APEX technology](https://www.asperbio.com/dna-analysis-using-the-apex-technology/) - In a pool of different technologies developed for the DNA screening APEX stands out for its unique approach for targeted analysis. In this short 3D animation clip https://www.youtube.com/watch?v=UisFrD2AEII you can see the whole process in practice starting from the DNA already extracted from blood till the final data analysis. For either the medical purposes or
- [New article on CSNB testing](https://www.asperbio.com/new-article-of-csnb-testing/) - An article on congenital stationary night blindness (CSNB) by Dr. Zeitz and three scientists from Asper Biotech was just published in Methods in Molecular Biology (Methods Mol Biol. 2013;963:319-26.). The article describes APEX-based method for the analysis of mutations associated with CSNB. Details for the article: Arrayed primer extension microarray for the analysis of genes
- [Another step towards the personal medicine](https://www.asperbio.com/another-step-towards-the-personal-medicine/) - An article of Asper Biotech’s participation of a cancer research project CTCtrap (circulating tumour cells) was just realised in the biggest Estonian newspaper. The CTCtrap method investigates the possibility of “catching” free circulating cancer cells from the bloodstream. In case of a success, this method could possibly lead to a solution where cancer, once beaten,
- [Asper Animal Genetics](https://www.asperbio.com/aa-genetics-1/) - Asper Biotech just launched a new brand - Asper Animal Genetics. There are several hereditary conditions that are common for animals and each species has it’s own conditions. Some of them are important for selective breeding to rule out the undesired features as others are very serious diseases that needs an expert whilst handling the
- [DNA analysis in Asper Biotech](https://www.asperbio.com/dna-analysis-in-asper-biotech/) - DNA analysis in Asper Biotech
- [Asper Biotech at the ESHG 2013](https://www.asperbio.com/asper-biotech-at-the-eshg-2013/) - Asper Biotech invites you to visit our booth no 270 at the Annual Meeting of the European Society of Human Genetics in Paris, France on June 8-11. We will be presenting updated version of the Asper Ophthalmics’s tests such as Usher Syndrome that is currently in the phase of larger update, as well as a
- [New version of Usher Syndrome test](https://www.asperbio.com/new-version-of-usher-syndrome-test/) - Asper Biotech has launched a new version of Usher syndrome test. The APEX-based test has been updated to include 810 alterations associated with different types of Usher syndrome, as well as nonsyndromic hearing loss and deafness. For more comprehensive diagnostics we are also offering Usher syndrome Next-Gen Panel that covers the analysis of eleven disease-related
- [Whole exome sequencing for just 890 Euros](https://www.asperbio.com/whole-exome-sequencing-for-just-890-euros/) - Whole exome sequencing for just 890 Euros
- [New tests in Asper Animal Genetics](https://www.asperbio.com/new-tests-in-asper-animal-genetics/) - Progressive Rod-Cone Degeneration (prcd-PRA), Progressive Retinal Atrophy (GR-PRA1), Congenital Ichthyosis
- [Online ordering now available](https://www.asperbio.com/online-ordering-now-available/) - To improve the ordering process for our customers, Asper Biotech has established a new online ordering system. On the page of each test you can find Ordering information with the detailed description of the ordering process and the link to Online ordering. Please note that there are separate forms for the diagnostic package service and
- [Updated version of XLRP test](https://www.asperbio.com/updated-version-of-xlrp-test/) - X-linked retinitis pigmentosa test has come through a profound update. In addition to analysis of 187 mutations in the RP2 and RPGR genes by APEX technology, the testing now includes mutation detection in the ORF15 region, as well as exon 15a and exon 15b deletions in the RPGR gene. The ORF15 region is detected by
- [New article on Lynch syndrome mutations](https://www.asperbio.com/new-article-on-lynch-syndrome-mutations/) - A new article on Lynch syndrome mutations shared by the Baltic States has been released with the participation of Asper Biotech’s researchers. The study supports the idea that populations from neighboring countries can share genetic alterations in MMR genes as 20% of families from Estonia, Latvia and Lithuania with known MMR pathogenic changes carry mutation
- [MiSeq sequencer at Asper Biotech's lab](https://www.asperbio.com/miseq-sequencer-at-asper-biotechs-lab/) - Asper Biotech is pleased to introduce a new addition to our lab - MiSeq sequencer from Illumina. Part of our strategy lies in broadening the variety of different technologies used in DNA testing. Once the initial training has been completed and the MiSeq has been adapted for our lab environment and everyday working processes we
- [CLIA Certificate](https://www.asperbio.com/clia-certificate/) - Asper Biotech proudly announces that we received CLIA Certificate (ID 99D2046227), proving our laboratory services being in compliance with all applicable CLIA requirements. We have been steadily operating in accordance with the highest clinical standards and good laboratory practice. Hence, becoming a CLIA approved laboratory affirms our common effort to systematically improve the quality of
- [Asper Biotech at the ASHG 2012](https://www.asperbio.com/asper-biotech-at-the-ashg-2012/) - Asper Biotech at ASHG 2012
- [Updated version of ARRP test](https://www.asperbio.com/updated-version-of-arrp-test/) - retinitis pigmentosa
- [Asper Biotech in new FP7 project - CTCtrap](https://www.asperbio.com/asper-biotech-in-new-fp7-project-ctctrap/) - The EU has awarded a six-million-euro grant to the project CTCtrap (Circulating Tumour Cells TheRapeutic Apheresis), led by Leon Terstappen, Professor of Medical Cell Biophysics at the University of Twente. The new and highly advanced technique known as the CTCtrap aims to screen cancer patients for circulating tumor cells (CTC) in the future, and thereby
- [New oncogenetic tests](https://www.asperbio.com/new-oncogenetic-tests/) - Asper Oncogenetics portfolio
- [Asper Biotech at ARVO 2012, ESHG 2012, 17th Retina International World Congress](https://www.asperbio.com/asper-biotech-at-arvo-2012-eshg-2012-17th-retina-international-world-congress/) - Asper Biotech will be represented at the following conferences in 2012 - ARVO Annual Meeting (#214), May 6-10 in Fort Lauderdale, ESHG Conference (#318), June 23-26 in Nürnberg, 17th Retina International World Congress, July 13-15 in Hamburg.
- [New additional markers in ALMS1 gene](https://www.asperbio.com/thirteen-new-additional-markers-in-alms1-gene/) - Thirteen new additional markers in ALMS1 gene are available for the detection of Alström Syndrome.
- [Updated version of Congenital Stationary Night Blindness genetic test is now available](https://www.asperbio.com/updated-version-of-congenital-stationary-night-blindness-genetic-test-is-now-available/) - Asper Biotech, in collaboration with scientific partners, has updated Congenital Stationary Night Blindness (CSNB) genetic test. The new version includes two additional genes - GRK1 and TRPM1, associated with Congenital Stationary Night Blindness. Now the CSNB microarray covers the analysis of 11 genes - RHO, PDE6B, GNAT1, CABP4, GRM6, SAG, NYX, CACNA1F, CACNA2D, GRK1, TRPM1
- [Sequencing of the RPE65 gene](https://www.asperbio.com/sequencing-of-the-rpe65-gene/) - Asper Biotech is now offering sequence analysis of the entire coding region of the RPE65 gene.
- [European Human Genetics Conference 2011](https://www.asperbio.com/european-human-genetics-conference-2011/) - Visit Asper Biotech's booth (#280) at the European Human Genetics Conference on 28-31th of May 2011 in Amsterdam, The Netherlands. Our company, represented by CEO Eneli Oitmaa and Medical Geneticist Dr Kairit Joost, is also involved in a Poster Session. The posters will be presented respectively on the topics "Diagnostic testing for Male Factor Infertility
- [Updated version of Sensorineural Hearing Loss test](https://www.asperbio.com/updated-version-of-sensorineural-hearing-loss-test/) - Asper Biotech has updated Sensorineural Hearing Loss (SNHL) genetic test. The new version includes five additional genes – KCNQ4, TCM1, MYO15A, MYO7A, as well as 232kb deletion from GJB6 gene [del(GJB6-D13S1854)]. Now the SNHL microarray covers the analysis of 11 genes – GJB2, GJB6, GJB3, SLC26A5, SLC26A4, MTNR1, MTTS1, KCNQ4, TCM1, MYO15A, MYO7A – and
- [Asper Biotech at ICHG](https://www.asperbio.com/asper-biotech-at-ichg/) - Asper Biotech will be attending at the 12th International Congress of Human Genetics in Canada. We are glad to meet you in our exhibition booth (#311) on 11-14th of October at the Le Palais des Congrès in Montreal.
- [New test - Leber Hereditary Optic Neuropathy](https://www.asperbio.com/new-test-leber-hereditary-optic-neuropathy/) - New addition to the Asper Ophthalmics portfolio: Leber Hereditary Optic Neuropathy, testing three primary mutations in mtDNA.
- [Sequencing of the ABCA4 gene](https://www.asperbio.com/sequencing-of-the-abca4-gene/) - Asper Biotech is now offering sequence analysis of the entire coding region of the ABCA4 gene.
- [Asper at ESHG 2010](https://www.asperbio.com/asper-in-eshg-2010/) - Several new innovative genetic tests and services will be launched on the market this year. At the European Human Genetics Conference on 12-15 June 2010 in Gothenburg, Sweden Asper’s representatives will provide wider and more attractive products than ever before. We are glad to meet our partners and clients in Asper Biotech (#B218) and Genorama
- [Asper Biotech's collaboration with Polish leading genetic testing center](https://www.asperbio.com/asper-biotechs-collaboration-with-polish-leading-genetic-testing-center/) - Asper Biotech is presenting its collaboration with our to-be exclusive partner for Asper's eye diseases testing in Poland Centrum Genetyki Medycznej and jointly participating at the Congress of the Polish Society of Ophthalmology in Warsaw on 10th-13th of June. This is a great opportunity to spread the word about Asper's tests to the 1500 eye
- [16th Retina International World Congress](https://www.asperbio.com/16th-retina-international-world-congress/) - Asper Biotech will be represented at the 16th Retina International World Congress in Stresa, Italy. You are welcome to visit our booth on 26-27 June 2010.
- [Asper Biotech at EVER held in Portoroz](https://www.asperbio.com/asper-biotech-at-ever-held-in-portoroz/) - Asper Biotech participated at European Association for Vision and Eye Research (EVER) held in Portoroz, Slovenia on September 30 - October 3, 2009.
- [Asper Biotech at BIOFORUM and Geneforum](https://www.asperbio.com/asper-biotech-at-bioforum-and-geneforum/) - Asper Biotech participated at Central European Forum of Biotechnology & Innovative Bioeconomy BIOFORUM on 3-4th of June in Lodz, Poland. Asper was represented in booth #37 in collaboration with Tartu Biotechnology Park. Asper also participated at 9th Annual International Geneforum on 12-13th of June in Tartu, Estonia. The exhibition stand at Geneforum has been co-financed
- [The Champions of innovation](https://www.asperbio.com/the-champions-of-innovation/) - The prize of German Economy was established to bring into focus Estonian - German economical cooperation and to promote companies with the best experiences in this area. From 16 qualified companies and 5 finalists Asper Biotech was highlighted as the most innovative, as well as carrying most social value together with German scientific partners from
- [Genetic testing in Hungary](https://www.asperbio.com/genetic-testing-in-hungary/) - The goal is to offer the country's eye doctors and other specialists the wide portfolio of Asper's test. Currently working in close collaboration with Optovision Ltd. Asper Biotech has the goal of reaching the Hungarian eye doctors offering them diagnostics solutions that are enhanced by our partner's advancing knowledge in eye disease genetics. Co-operation with internet medicine network
- [International Symposium on Usher Syndrome and Related Diseases](https://www.asperbio.com/international-symposium-on-usher-syndrome-and-related-diseases/) - Asper Biotech will participate at International Symposium on Usher Syndrome and Related Diseases, on 27-29th of May 2010 in Valencia, Spain. Asper Biotech's genetic counsellor Ilona Lind will present the report on Asper's diagnostic tool for the Usher syndrome.

## Pages

- [About Us](https://www.asperbio.com/)
- [Gilberti sündroom](https://www.asperbio.com/asper-metabolic-disorders/gilbert-syndrome/) - Gilberti sündroomiga seotud UGT1A1 geenivariandi analüüs Geen: UGT1A1 geenivariant c.-41_-40 dupTA (UGT1A1*28) Metoodika: Sanger sekveneerimine Testi valmimisaeg: 2-4 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl DNA saata toatemperatuuril või külmutatuna. A260/A280 suhe peaks olema 1.8-2.0. DNA peab agaroosgeelis
- [Gilbert syndrome](https://www.asperbio.com/asper-metabolic-disorders/gilbert-syndrome/) - Gilbert syndrome: UGT1A1 gene variant analysis Genes (full coding region): UGT1A1 gene variant c.-41_-40 dupTA (UGT1A1*28) Lab method: TAT: 2-4 weeks Specimen requirements: 2-4 ml of blood with anticoagulant EDTA 1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on
- [Geenitestid](https://www.asperbio.com/genetic-tests/ngs/next-generation-sequencing) - Asper Biogene geenitestid hõlmavad oftalmoloogia, onkoloogia, kardioloogia, neuroloogia, endokrinoloogia, metaboolsete haiguste jt valdkondi.
- [Ettevõttest](https://www.asperbio.com/genetic-testing-company/next-generation-sequencing/company-profile) - Pärilike haiguste geenitestid
- [Eksoomi sekveneerimine neuro](https://www.asperbio.com/et/asper-neurogenetics-testid/eksoomi-sekveneerimine-2/) - Eksoomi sekveneerimine
- [Wilsoni tõbi](https://www.asperbio.com/asper-neurogenetics/wilson-disease/) - Wilsoni tõve geneetiline testimine
- [Unverricht-Lundborgi tõbi](https://www.asperbio.com/et/asper-neurogenetics-testid/unverricht-lundborgi-tobi/) - Unverricht-Lundborgi tõvega seotud geenide sekveneerimine (I tüüpi progresseeruv müoklooniline epilepsia) Geenid: EPM1 (CSTB) Metoodika: Kodeeriva piirkonna sekveneerimine (Sanger). Testi valmimisaeg: 2-4 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl DNA saata toatemperatuuril või külmutatuna. A260/A280 suhe peaks olema 1.8-2.0.
- [Tuberoosne skleroos](https://www.asperbio.com/asper-neurogenetics/tuberous-sclerosis-ngs-panel/) - Tuberoosse skleroosiga seotud geenide sekveneerimine
- [Spinotserebellaarne ataksia 12](https://www.asperbio.com/et/asper-neurogenetics-testid/spinotserebellaarne-ataksia-12/) - Spinotserebellaarse ataksia tüüp 12 Geenid: PPP2R2B Metoodika: Sanger sekveneerimine Testi valmimisaeg: 2-4 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl DNA saata toatemperatuuril või külmutatuna. A260/A280 suhe peaks olema 1.8-2.0. DNA peab agaroosgeelis pikkusmarkeri juuresolekul olema detekteeritav ühe tervikliku
- [Smith-Lemli-Opitzi sündroom](https://www.asperbio.com/asper-neurogenetics/smith-lemli-opitz-syndrome/) - Smith-Lemli-Opitzi sündroomi geneetiline testimine
- [Pärilik spastiline parapleegia](https://www.asperbio.com/asper-neurogenetics/hereditary-spastic-paraplegia/ngs-panel) - Päriliku spastilise parapleegia geneetiline testimine
- [Pärilik ataksia](https://www.asperbio.com/et/asper-neurogenetics-testid/parilik-ataksia-2/) - Päriliku ataksia geneetiline testimine
- [Perekondliku hemipleegilise migreeniga seotud geenide sekveneerimine](https://www.asperbio.com/asper-neurogenetics/familial-hemiplegic-migraine-ngs-panel/) - Perekondliku hemipleegilise migreeniga seotud geenide sekveneerimine
- [Paroksüsmaalse düskineesiaga seotud geenide sekveneerimine](https://www.asperbio.com/asper-neurogenetics/paroxysmal-dyskinesia-ngs-panel/) - Paroksüsmaalse düskineesiaga seotud geenide sekveneerimine
- [Parkinsoni tõbi](https://www.asperbio.com/asper-neurogenetics/parkinson-disease/ngs-panel) - Parkinsoni tõve geneetiline testimine
- [Pahaloomulise hüpertermiaga seotud geenide sekveneerimine](https://www.asperbio.com/asper-neurogenetics/malignant-hyperthermia-ngs-panel/) - Pahaloomulise hüpertermiaga seotud geenide sekveneerimine Geenid: CACNA1S, RYR1, STAC3 Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale. Testi valmimisaeg: 6-9 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl
- [Okulofarüngeaalne lihasdüstroofia](https://www.asperbio.com/et/asper-neurogenetics-testid/okulofarungeaalne-lihasdustroofia/) - Okulofarüngeaalne lihasdüstroofia Geenid: OPMD (PABPN1) Metoodika: Sanger sekveneerimine Testi valmimisaeg: 2-4 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl DNA saata toatemperatuuril või külmutatuna. A260/A280 suhe peaks olema 1.8-2.0. DNA peab agaroosgeelis pikkusmarkeri juuresolekul olema detekteeritav ühe tervikliku bändina. Okulofarüngeaalne lihasdüstroofia, PABN1
- [Neurofibromatoosiga seotud geenide sekveneerimine](https://www.asperbio.com/asper-neurogenetics/neurofibromatosis-ngs-panel/) - Neurofibromatoosiga seotud geenide sekveneerimine Geen: CCND1, LZTR1, NF1, NF2, SMARCB1, SPRED1, TSC1, TSC2, VHL Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale. Testi valmimisaeg: 6-9 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d elueerituna TE, AE puhvris või
- [Müotooniline lihasdüstroofia, tüüp II](https://www.asperbio.com/asper-neurogenetics/myotonic-dystrophy-type-ii/) - Müotooniline lihasdüstroofia, tüüp II (DM2) Geenid: CNBP Metoodika: Sanger sekveneerimine Testi valmimisaeg: 2-4 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl DNA saata toatemperatuuril või külmutatuna. A260/A280 suhe peaks olema 1.8-2.0. DNA peab agaroosgeelis pikkusmarkeri juuresolekul olema detekteeritav ühe
- [Müotooniline lihasdüstroofia, tüüp I](https://www.asperbio.com/asper-neurogenetics/myotonic-dystrophy-type-i/) - Müotooniline lihasdüstroofia, tüüp I (DM1) Geenid: DMPK Metoodika: Sanger sekveneerimine Testi valmimisaeg: 2-4 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl DNA saata toatemperatuuril või külmutatuna. A260/A280 suhe peaks olema 1.8-2.0. DNA peab agaroosgeelis pikkusmarkeri juuresolekul olema detekteeritav ühe
- [Mitokondriaalsed haigused](https://www.asperbio.com/asper-neurogenetics/mitochondrial-diseases/) - Mitokondriaalsete haiguste geneetiline testimine
- [Metaboolne müopaatia ja rabdomüolüüs](https://www.asperbio.com/asper-neurogenetics/metabolic-myopathy-and-rhabdomyolysis/) - Metaboolse müopaatia ja rabdomüolüüsiga seotud geenide sekveneerimine Geen: ABHD5, ACAD9, ACADM, ACADVL, AGL, ALDOA, AMPD1, ANO5, CAV3, CPT2, DGUOK, DMD, DYSF, ENO3, ETFA, ETFB, ETFDH, FDX2 (FDX1L), FKRP, FLAD1, GAA, GBE1, GYG1, GYS1, HADHA, HADHB, ISCU, LDHA, LPIN1, OPA1, OPA3, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PNPLA2, PRKAG2, POLG, POLG2, PYGM, RRM2B, RYR1, SCN4A, SIL1,
- [Menkesi haigus](https://www.asperbio.com/asper-neurogenetics/menkes-disease/) - Menkese haiguse geneetiline testimine
- [Leukodüstroofia ja leukoentsefalopaatia](https://www.asperbio.com/asper-neurogenetics/leukodystrophy-and-leukoencephalopathy-ngs-panel/) - Leukodüstroofia ja leukoentsefalopaatiaga seotud geenide sekveneerimine
- [Kaasasündinud müotooniad](https://www.asperbio.com/asper-neurogenetics/myotonia-congenita/) - Kaasasündinud müotooniaga seotud geenide sekveneerimine Geenid: CLCN1, SCN4A, HINT1 Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale. Testi valmimisaeg: 6-9 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl
- [Kaasasündinud müopaatia ja distaalne müopaatia](https://www.asperbio.com/asper-neurogenetics/congenital-myopathy-and-distal-myopathy-ngs-panel/) - Kaasasündinud- ja distaalse müopaatiaga seotud geenide sekveneerimine
- [Kaasasündinud müasteenilise sündroomiga seotud  geenide sekveneerimine](https://www.asperbio.com/asper-neurogenetics/congenital-myasthenic-syndrome-ngs-panel/) - Kaasasündinud müasteenilise sündroomiga seotud geenide sekveneerimine
- [Kaasasündinud lihasdüstroofiaga seotud geenide sekveneerimine](https://www.asperbio.com/et/asper-neurogenetics-testid/kaasasundinud-lihasdustroofiaga-seotud-geenide-sekveneerimine/) - Kaasasündinud lihasdüstroofiaga seotud geenide sekveneerimine
- [Jäsemevöötme lihasdüstroofia](https://www.asperbio.com/asper-neurogenetics/limb-girdle-muscular-dystrophy-ngs-panel/) - Jäsemevöötme lihasdüstroofiaga seotud geenide sekveneerimine
- [Frontotemporaalne dementsus](https://www.asperbio.com/asper-neurogenetics/frontotemporal-dementia/ngs-panel) - Frontotemporaalse dementsuse geneetiline testimine
- [Fragiilse X-i sündroom](https://www.asperbio.com/asper-neurogenetics/fragile-x-syndrome/) - Fragiilse X-i sündroomiga seotud FMR1 geeni analüüs
- [Epilepsia](https://www.asperbio.com/asper-neurogenetics/epilepsy/ngs-panel) - Epilepsia geneetiline testimine
- [Düstooniad](https://www.asperbio.com/asper-neurogenetics/dystonia/ngs-panel) - Düstooniate geneetiline testimine
- [Charcot-Marie-Toothi haigus](https://www.asperbio.com/asper-neurogenetics/charcot-marie-tooth-disease/) - Charcot-Marie-Toothi haiguse geneetiline testimine
- [Brunneri sündroomiga seotud MAOA geeni sekveneerimine](https://www.asperbio.com/asper-neurogenetics/brunner-syndrome/) - Brunneri sündroomiga seotud MAOA geeni sekveneerimine
- [Autismi spektri häiretega seotud geenide sekveneerimine](https://www.asperbio.com/asper-neurogenetics/autism-spectrum-disorders-ngs-panel/) - Autismi spektri häiretega seotud geenide sekveneerimine
- [Amüotroofiline lateraalskleroos](https://www.asperbio.com/asper-neurogenetics/amyotrophic-lateral-sclerosis-ngs-panel/) - Amüotroofiline lateraalskleroos NGS paneel
- [Ajukoe raualadestusega seotud neurodegeneratsioon](https://www.asperbio.com/asper-neurogenetics/neurodegeneration-with-brain-iron-accumulation-ngs-panel/) - ATP13A2, COASY, C19orf12, CP, DCAF17, FA2H, FTL, PANK2, PLA2G6, WDR45
- [Contacts](https://www.asperbio.com/about-asper-biogene/next-generation-sequencing/contacts) - Genetic testing services
- [Contacts](https://www.asperbio.com/about-us/asper-biogene-contacts/) - Genetic testing services, next generation sequencing services
- [Kontakt](https://www.asperbio.com/about-us/asper-biogene-contacts/) - Geneetilise testimise teenused
- [Kontakt](https://www.asperbio.com/et/kontakt/) - Kontakt Asper Biogene OÜ Vaksali 17a, 50410 Tartu, Eesti info[at]asperbio.com www.asperbio.com Tel +372 7307 295 Fax +372 7307 298
- [Asper Metabolic Disorders testid](https://www.asperbio.com/asper-metabolic-disorders/) - Asper Metabolic Disorders testide menüü koosneb metaboolsete haiguste geneetilistest testidest.
- [Asper Reprogenetics testid](https://www.asperbio.com/asper-reprogenetics/) - Syndromes related to increased Nuchal Translucency of fetus, Ashkenazi Jewish diseases, Venous Thrombosis risk assessment, Cystic Fibrosis
- [Asper Pharmacogenetics](https://www.asperbio.com/asper-pharmacogenetics/) - Asper Pharmacogenetics on valik geeniteste, mille fookuseks on geenide ja ravimite omavahelise mõju hindamine.
- [Asper Otogenetics testid](https://www.asperbio.com/asper-otogenetics/) - Asper Otogenetics includes multi-gene screening panels for the detection of genetic causes of syndromic and non-syndromic hearing loss and deafness
- [Asper Oncogenetics testid](https://www.asperbio.com/asper-oncogenetics/) - Asper Oncogenetics portfell sisaldab erinevaid geeniteste, mida kasutatakse sagedasemate ja haruldaste pärilike vähkkasvajate määramiseks.
- [Asper Nephrology testid](https://www.asperbio.com/asper-nephrology/) - Asper Nephrology Bardet- Biedli sündroom Bartteri sündroom Branchio-oto-renaalne sündroom Hemolüütilis-ureemiline sündroom Hüpomagneseemia Medullaarne tsüstneer Nefrootiline sündroom Polütsüstneer Primaarne tsiliaarne düskineesia Senior-Loken sündroom Tsiliopaatiad Eksoomi sekveneerimine Asper Nephrology testide valik sisaldab geenipaneele pärilike neeruhaiguste diagnoosimiseks, võimaldades testida nii monogeenseid haigusi nagu polütsüstneer kui ka komplekshaigusi. Laiendamaks diferentsiaaldiagnostika võimalusi kasutame neeruhaiguste geneetiliste põhjuste kindakstegemiseks teise põlvkonna sekveneerimise
- [Asper Hematology testid](https://www.asperbio.com/asper-hematology/) - Asper Hematology testid aitavad parandada erinevate vereloomehaiguste diagnoosimise ja käsitlemise võimalusi.
- [Asper Dysmorphology testid](https://www.asperbio.com/asper-dysmorphology/) - Asper Dysmorphology portfellis sisalduvad testid kaasasündinud anomaaliate määramiseks
- [Asper Dermatology testid](https://www.asperbio.com/asper-dermatology/) - Asper Dermatology on nahaga seotud haiguste diagnostikas kasutatav geneetiliste testide portfell.
- [Asper Ophthalmics testid](https://www.asperbio.com/asper-ophthalmics/) - AMD, OPA, retinitis pigmentosa, Bardet Biedl, Cone-Rod Dystrophy, CSNB, Corneal Dystrophy, LCA, Stargardt Disease, Usher syndrome
- [Asper Endocrinology testid](https://www.asperbio.com/asper-endocrinology/) - Asper Endocrinology portfell sisaldab pärilike endokrinoloogiliste haiguste diagnoosimist hõlbustavaid geeniteste.
- [Asper Cardiogenetics testid](https://www.asperbio.com/asper-cardiogenetics/) - Brugada Syndrome, Familial Hypercholesterolemia, Long QT Syndrome, Marfan Syndrome, Noonan Syndrome, Statin-Induced Myopathy
- [Asper Neurogenetics testid](https://www.asperbio.com/asper-neurogenetics/) - Charcot-Marie-Tooth Disease, Cornelia de Lange Syndrome, Menkes Disease, Microcephaly, Mitochondrial Diseases, Smith-Lemli-Opitz Syndrome, Spinal Muscular Atrophy, Wilson Disease
- [Asper Reprogenetics](https://www.asperbio.com/asper-reprogenetics/) - Syndromes related to increased Nuchal Translucency of fetus, Ashkenazi Jewish diseases, Venous Thrombosis risk assessment, Cystic Fibrosis
- [Monogeenne rasvumine](https://www.asperbio.com/asper-metabolic-disorders/monogenic-obesity/) - Monogeense rasvumisega seotud geenide sekveneerimine Geenid: ACBD6, ADCY3, AKR1C2, ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8orf37, CEP164, CEP19, CEP290, CPE, DYRK1B, GNAS, HTR2C, IFT172, IFT27, IFT74, INPP5E, KIDINS220, KSR2, LEP, LEPR, LZTFL1, MAGEL2, MC4R, MKKS, MKS1, MRAP2, MYT1L, NR0B2, NTRK2, PCSK1, PGM2L1, PHF6, PHIP, POMC, PPARG, SCAPER, SDCCAG8, SH2B1, SIM1,
- [Asper Metabolic Disorders](https://www.asperbio.com/asper-metabolic-disorders/) - Asper Metabolic Disorders consists of tests for molecular diagnostics of metabolic disorders.
- [Monogenic obesity](https://www.asperbio.com/asper-metabolic-disorders/monogenic-obesity/) - Monogenic obesity NGS panel Genes (full coding region): ACBD6, ADCY3, AKR1C2, ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8orf37, CEP164, CEP19, CEP290, CPE, DYRK1B, GNAS, HTR2C, IFT172, IFT27, IFT74, INPP5E, KIDINS220, KSR2, LEP, LEPR, LZTFL1, MAGEL2, MC4R, MKKS, MKS1, MRAP2, MYT1L, NR0B2, NTRK2, PCSK1, PGM2L1, PHF6, PHIP, POMC, PPARG, SCAPER, SDCCAG8,
- [Porfüüria](https://www.asperbio.com/asper-metabolic-disorders/porphyria-ngs-panel/) - Porfüüriaga seotud geenide sekveneerimine
- [Monogenic Obesity](https://www.asperbio.com/asper-metabolic-disorders/porphyria-ngs-panel/) - Porphyria genetic testing by sequencing of multigene panel.
- [Familial Thoracic Aortic Aneurysm and Dissection and Related Syndromes NGS panel](https://www.asperbio.com/asper-cardiogenetics/familial-thoracic-aortic-aneurysm-and-dissection-and-related-syndromes-ngs-panel) - Familial Thoracic Aortic Aneurysm and Dissection and Related Syndromes testing with next generation sequencing of a multigene panel
- [Parkinson Disease NGS panel](https://www.asperbio.com/asper-neurogenetics/parkinson-disease/ngs-panel) - Parkinson disease testing with next generation sequencing of a multigene panel
- [Dystonia NGS panel](https://www.asperbio.com/asper-neurogenetics/dystonia/ngs-panel) - Dystonia testing with next generation sequencing of a multigene panel
- [Perekondlik aordi aneurüsm, dissektsioon ja seonduvad sündroomid](https://www.asperbio.com/asper-cardiogenetics/familial-thoracic-aortic-aneurysm-and-dissection-and-related-syndromes-ngs-panel) - Familial Thoracic Aortic Aneurysm and Dissection and Related Syndromes testing with next generation sequencing of a multigene panel
- [Tellimisinfo arstile](https://www.asperbio.com/et/arstile/) - Asper Biogene geenitestide tellimine
- [Tellimisinfo patsiendile](https://www.asperbio.com/et/patsiendile/) - Asper Biogene geenitestide tellimisinfo patsiendile
- [Asper Neurogenetics](https://www.asperbio.com/asper-neurogenetics/) - Charcot-Marie-Tooth Disease, Cornelia de Lange Syndrome, Menkes Disease, Microcephaly, Mitochondrial Diseases, Smith-Lemli-Opitz Syndrome, Spinal Muscular Atrophy, Wilson Disease
- [Perekondliku hüpokaltsiuurilise hüperkaltseemiaga seotud CASR geeni sekveneerimine](https://www.asperbio.com/asper-endocrinology/familial-hypocalciuric-hypercalcemia/) - Perekondliku hüpokaltsiuurilise hüperkaltseemiaga seotud CASR geeni sekveneerimine
- [Hüpolaktaasia](https://www.asperbio.com/asper-metabolic-disorders/lactose-intolerance/) - Hüpolaktaasia - Laktoositalumatuse päriliku eelsoodumusega seotud geenide sekveneerimine Geen: LCT geeni polümorfismi 13910C>T määramine Metoodika: Sanger sekveneerimine Testi valmimisaeg: 1-2 nädalat Nõuded proovi-materjalile: Steriilne põsekaape proov vatitikuga. 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti). 1 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl DNA saata toatemperatuuril või külmutatuna. A260/A280 suhe Laktoositalumatus
- [Hypolactasia](https://www.asperbio.com/asper-metabolic-disorders/lactose-intolerance/) - Hypolactasia - Lactose intolerance hereditary predisposition analysis Genes (full coding region): LCT gene polymorphism 13910C>T analysis Lab method: TAT: 1-2 weeks Specimen requirements: Sterile buccal swab. 2-4 ml of blood with anticoagulant EDTA. 1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl The A260/A280 ratio should be 1.8-2.0. DNA sample should
- [Pärilikud autoinflamatoorsed seisundid](https://www.asperbio.com/asper-immunogenetics/hereditary-autoinflammatory-syndrome/) - Pärilikud autoinflamatoorsed seisundid Geen: ADAM17, ALPI, CARD14, COPA, C2orf69, HAVCR2, HCK, IL1RN, IL36RN, LPIN1, MEFV, MVK, NCKAP1L, NLRC4, NLRP1, NLRP3, NLRP12, NOD2, OTULIN, PLCG2, PSMB8, PSMB9, PSMG2, PSTPIP1, RIPK1, SH3BP2, SLC29A3, SYK, TBK1, TNFAIP3, TNFRSF1A, TRIM22 Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale.
- [Hereditary autoinflammatory syndrome](https://www.asperbio.com/asper-immunogenetics/hereditary-autoinflammatory-syndrome/) - Hereditary autoinflammatory syndrome Genes (full coding region): ADAM17, ALPI, CARD14, COPA, C2orf69, HAVCR2, HCK, IL1RN, IL36RN, LPIN1, MEFV, MVK, NCKAP1L, NLRC4, NLRP1, NLRP3, NLRP12, NOD2, OTULIN, PLCG2, PSMB8, PSMB9, PSMG2, PSTPIP1, RIPK1, SH3BP2, SLC29A3, SYK, TBK1, TNFAIP3, TNFRSF1A, TRIM22 Lab method: TAT: 6-9 weeks Specimen requirements: 2-4 ml of blood with anticoagulant EDTA 1
- [Genetic testing services](https://www.asperbio.com/next-generation-sequencing-service/NGS) - Whole exome sequencing, whole genome sequencing, NGS panels, targeted regions sequencing.
- [Privacy policy](https://www.asperbio.com/genetic-testing-process/privacy-policy/) - Privacy policy Hereunder you will find the information on how Asper Biogene LLC (hence: Asper Biogene) processes and protects your personal data: 1. Collecting of personal data, defining data controller and data processor Asper Biogene is a world-renown genetic testing company that provides various genetic testing services (hereinafter: the Services) and is engaged in the
- [Terms and conditions](https://www.asperbio.com/genetic-tests/next-generation-sequencing/terms-and-conditions/) - Asper Biogene's terms and conditions of genetic testing services
- [Privaatsustingimused](https://www.asperbio.com/et/geenitestid/privaatsustingimused/) - Privaatsustingimused Siit lehelt leiate informatsiooni selle kohta, kuidas Asper Biogene OÜ (edaspidi: Asper Biogene) Teie isikuandmeid töötleb ja nende kaitse tagab: 1. Isikuandmed, nende kogumine ning vastutava ja volitatud töötleja määratlemine Asper Biogene on maailmas tunnustatud geneetiliste uuringute valdkonna ettevõte, mis tegeleb erinevate geneetilise testimise teenuste osutamise ning geenitestide arendamisega (edaspidi: Teenused). Teile Teenuste osutamiseks
- [Testimise sätted ja tingimused](https://www.asperbio.com/genetic-tests/next-generation-sequencing/terms-and-conditions/) - Geneetilise testimise tingimused ja sätted
- [Homotsüsteiini ainevahetus](https://www.asperbio.com/asper-metabolic-disorders/homocysteine-metabolism/) - Homotsüsteiini ainevahetus - MTHFR geeni variantide 677C>T ja 1298A>C määramine. Geen: MTHFR Metoodika: Sanger sekveneerimine Testi valmimisaeg: 2-4 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 300 ng DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl DNA saata toatemperatuuril või külmutatuna. A260/A280 suhe peaks olema 1.8-2.0. DNA peab agaroosgeelis
- [Homocysteine metabolism](https://www.asperbio.com/asper-metabolic-disorders/homocysteine-metabolism/) - Homocysteine metabolism – detection of the MTHFR gene variants 677C>T ja 1298A>C. Genes (full coding region): MTHFR Lab method: TAT: 2-4 weeks Specimen requirements: 2-4 ml of blood with anticoagulant EDTA 300 ng DNA in TE, AE or pure sterile water at 100-250 ng/µl The A260/A280 ratio should be 1.8-2.0. DNA sample should be run
- [Pärilik pankreatiit](https://www.asperbio.com/asper-metabolic-disorders/hereditary-pancreatitis/) - Päriliku pankreatiidiga seotud geenide sekveneerimine Geenid: PRSS1, CFTR, SPINK1, CTRC, CLDN2, CPA1, CASR, CEL, TRPV6, SLC2A13, LPL, GPIHBP1, APC, COX4I2, TRNT1, PTRH2 Metoodika: Kodeeriva piirkonna sekveneerimine (NGS) Testi valmimisaeg: 6-9 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl DNA
- [Hereditary Pancreatitis](https://www.asperbio.com/asper-metabolic-disorders/hereditary-pancreatitis/) - Sequencing of genes related to hereditary pancreatitis Genes (full coding region): PRSS1, CFTR, SPINK1, CTRC, CLDN2, CPA1, CASR, CEL, TRPV6, SLC2A13, LPL, GPIHBP1, APC, COX4I2, TRNT1, PTRH2 Lab method: TAT: 6-9 weeks Specimen requirements: 2-4 ml of blood with anticoagulant EDTA 1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl The
- [Wilson Disease](https://www.asperbio.com/asper-neurogenetics/wilson-disease/) - Wilson Disease genetic testing by sequencing of the ATP7B gene
- [Pigmentretiniidid](https://www.asperbio.com/asper-ophthalmics/retinitis-pigmentosa/) - Pigmentretiniidid: ADRP, ARRP, XLRP (sh RPGR geeni ORF15 piirkond) Geenid: ABCA4, AIPL1, ARL6, BEST1, PCARE(C2orf71),CFAP418(C8ORF37), CA4, CERKL, CLRN1, CNGA1, CNGB1, CNGB3, CRB1, CRX, DHDDS, EYS, FAM161A, FLVCR1, FSCN2, GUCA1B, IDH3B, IMPDH1, KLHL7, IMPG2, LRAT, MAK, MERTK, NR2E3, NRL, OFD1, PDE6A, PDE6B, PDE6G, PRCD, PROM1, PRKCG, PRPF3, PRPF6, PRPF8, PRPF31, PRPH2, RBP3, RDH12, RGR, RHO, RLBP1,
- [Asper Endocrinology](https://www.asperbio.com/asper-endocrinology/) - Asper Endocrinology encompasses tests for diagnostics of hereditary endocrine disorders.
- [Hüpofosfataasia](https://www.asperbio.com/asper-endocrinology/hypophosphatasia/) - Hüpofosfataasia Geen: ALPL geeni sekveneerimine Metoodika: Kodeeriva piirkonna sekveneerimine (NGS) Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale. Testi valmimisaeg: 6-9 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl DNA saata toatemperatuuril või
- [Hypophosphatasia](https://www.asperbio.com/asper-endocrinology/hypophosphatasia/) - Hypophosphatasia NGS panel Genes (full coding region): ALPL Lab method: TAT: 6-9 weeks Specimen requirements: 2-4 ml of blood with anticoagulant EDTA 1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing
- [Asper Ophthalmics](https://www.asperbio.com/asper-ophthalmics/) - AMD, OPA, retinitis pigmentosa, Bardet Biedl, Cone-Rod Dystrophy, CSNB, Corneal Dystrophy, LCA, Stargardt Disease, Usher syndrome
- [Retinitis pigmentosa](https://www.asperbio.com/asper-ophthalmics/retinitis-pigmentosa/) - Retinitis pigmentosa: ADRP, ARRP, XLRP (inc. RPGR ORF15 region) Genes (full coding region): ABCA4, AIPL1, ARL6, BEST1, PCARE(C2orf71),CFAP418(C8ORF37), CA4, CERKL, CLRN1, CNGA1, CNGB1, CNGB3, CRB1, CRX, DHDDS, EYS, FAM161A, FLVCR1, FSCN2, GUCA1B, IDH3B, IMPDH1, KLHL7, IMPG2, LRAT, MAK, MERTK, NR2E3, NRL, OFD1, PDE6A, PDE6B, PDE6G, PRCD, PROM1, PRKCG, PRPF3, PRPF6, PRPF8, PRPF31, PRPH2, RBP3, RDH12,
- [Galaktoseemia](https://www.asperbio.com/asper-metabolic-disorders/galactosemia/) - Galaktoseemia GALT geenivariandi sekveneerimine Geen: GALT geenivariandi c.563A>G (p.Q188R) sekveneerimine Metoodika: Sanger sekveneerimine Testi valmimisaeg: 6-9 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl DNA saata toatemperatuuril või külmutatuna. A260/A280 suhe peaks olema 1.8-2.0. DNA peab agaroosgeelis pikkusmarkeri juuresolekul Galaktoseemia
- [Tsöliaakia](https://www.asperbio.com/asper-metabolic-disorders/celiac-disease/) - Tsöliaakia päriliku eelsoodumusega seotud geenide sekveneerimine Geen: HLA-antigeenid DQ2/DQ8 Metoodika: Sanger sekveneerimine Testi valmimisaeg: 6-9 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl DNA saata toatemperatuuril või külmutatuna. A260/A280 suhe peaks olema 1.8-2.0. DNA peab agaroosgeelis pikkusmarkeri juuresolekul olema Tsöliaakia | Gluteenitalumatus |
- [Celiac Disease](https://www.asperbio.com/asper-metabolic-disorders/celiac-disease/) - Celiac Disease hereditary predisposition analysis Genes (full coding region): HLA-antigenes DQ2/DQ8 Lab method: TAT: 2-4 weeks Specimen requirements: 2-4 ml of blood with anticoagulant EDTA 1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a
- [Galactosemia](https://www.asperbio.com/asper-metabolic-disorders/galactosemia/) - Galactosemia GALT gene variant analysis Genes (full coding region): GALT gene variant c.563A>G (p.Q188R) analysis Lab method: TAT: 2-4 weeks Specimen requirements: 2-4 ml of blood with anticoagulant EDTA 1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose
- [Familial mutation testing](https://www.asperbio.com/asper-immunogenetics/familial-mutation-testing/) - Familial mutation testing TAT: 1-4 weeks Specimen requirements: 2-4 ml of blood with anticoagulant EDTA 300 ng DNA in TE, AE or pure sterile water at 100-250 ng/µl The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA
- [Whole Exome Sequencing](https://www.asperbio.com/asper-immunogenetics/whole-exome-sequencing/) - Whole Exome Sequencing Genes (full coding region): Whole exome Lab method: TAT: 10 weeks Specimen requirements: 2-4 ml of blood with anticoagulant EDTA 1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single
- [Genetic susceptibility to viral infections (including herpes)](https://www.asperbio.com/asper-immunogenetics/genetic-susceptibility-to-viral-infections-including-herpes/) - Genetic susceptibility to viral infections (including herpes) Genes (full coding region): ATG4A, DBR1, FCGR3A, IFIH1, IFNAR1, IFNAR2, IRF3, IRF7, IRF9, MAP1LC3B2, NOS2, POLR3A, POLR3C, POLR3F, SNORA31, STAT1, STAT2, TBK1, TICAM1, TLR3, TRAF3, UNC93B1, ZNFX1 Lab method: TAT: 6-9 weeks Specimen requirements: 2-4 ml of blood with anticoagulant EDTA 1 µg DNA in TE, AE
- [Genetic susceptibility to fungal infections/candidosis](https://www.asperbio.com/asper-immunogenetics/genetic-susceptibility-to-fungal-infections-candidosis/) - Genetic susceptibility to fungal infections/candidosis Genes (full coding region): IRE, CARD9, CLEC7A, IL17F, IL17RA, IL17RC, MAPK8, STAT1, TRAF3IP2 Lab method: TAT: 6-9 weeks Specimen requirements: 2-4 ml of blood with anticoagulant EDTA 1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl The A260/A280 ratio should be 1.8-2.0. DNA sample should
- [Genetic susceptibility to mycobacterial diseases](https://www.asperbio.com/asper-immunogenetics/genetic-susceptibility-to-mycobacterial-diseases/) - Genetic susceptibility to mycobacterial diseases Genes (full coding region): CYBB, IFNG, IFNGR1, IFNGR2, IL12B, IL12RB2, IL12RB1, IL23R, IRF8, ISG15, JAK1, RORC,SPPL2A, TBX21, TYK2 Lab method: TAT: 6-9 weeks Specimen requirements: 2-4 ml of blood with anticoagulant EDTA 1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl The A260/A280 ratio should
- [Hereditary angioedema](https://www.asperbio.com/asper-immunogenetics/hereditary-angioedema/) - Hereditary angioedema Genes (full coding region): ANGPT1, F12, HS3ST6, KNG1, MYOF, PLG, SERPING1 Lab method: TAT: 6-9 weeks Specimen requirements: 2-4 ml of blood with anticoagulant EDTA 1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose
- [Primary ciliary dyskinesia](https://www.asperbio.com/asper-immunogenetics/primary-ciliary-dyskinesia/) - Primary ciliary dyskinesia Genes (full coding region): CCDC39, CCDC40, CCDC65, CCDC103, CCNO, CFAP298, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAAF11 (LRRC6), DNAH1, DNAH5, DNAH8, DNAH11, DNAI1, DNAI2, DNAJB13, DNAL1, DRD1, GAS8, HYDIN, MCIDAS, NME8, OFD1, ODAD1 (CCDC114), ODAD2 (ARMC4), ODAD3 (CCDC151), ODAD4 (TTC25), RPGR, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, STK36, ZMYND10 Lab method: TAT: 6-9
- [Chronic granulomatous disease](https://www.asperbio.com/asper-immunogenetics/chronic-granulomatous-disease/) - Chronic granulomatous disease Genes (full coding region): CYBA, CYBB, CYBC1, G6PD. NCF1, NCF2, NCF4 Lab method: TAT: 6-9 weeks Specimen requirements: 2-4 ml of blood with anticoagulant EDTA 1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an
- [Combined immunodeficiency](https://www.asperbio.com/asper-immunogenetics/combined-immunodeficiency/) - Combined immunodeficiency Genes (full coding region): ADA, AK2, B2M, BCL10, CARD11, CD247, CD3D, CD3E, CD3G, CD3Z, CD40, CD40LG, CD8A, CHD7, CHUK, CIITA, COPG1, CORO1A, DCLRE1C, DOCK2, DOCK8, FCHO1, FOXN1, ICOS, ICOSLG, IKBKB, IKZF1, IKZF2, IL2RG, IL21, IL21R, IL7R, IRAK4, ITK, ITPKB, JAK3, LAT, LCK, LIG4, LPC2, MALT1, MAN2B2, MAP3K14, MSN, MTHFD1, MYD88, NBS1, NHEJ1, ORAI1,
- [Hyper IgE syndrome](https://www.asperbio.com/asper-immunogenetics/hyper-ige-syndrome/) - Hyper IgE syndrome Genes (full coding region): CARD11, ERBIN (ERBB2IP), IL6R, IL6ST, PGM3, SPINK5, STAT3, TGFBR1, TGFBR2, ZNF341 Lab method: TAT: 6-9 weeks Specimen requirements: 2-4 ml of blood with anticoagulant EDTA 1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl The A260/A280 ratio should be 1.8-2.0. DNA sample should
- [Autoimmunity and lymphoproliferation](https://www.asperbio.com/asper-immunogenetics/autoimmunity-and-lymphoproliferation/) - Autoimmunity and lymphoproliferation Genes (full coding region): AIRE, CARMIL2, CASP8, CASP10, CD27, CD70, CTPS1, ELF4, FADD, IL10, IL10RA, IL10RB, ITCH, JAK1, MAGT1, NFAT5, PDCD1, PEPD, PRKCD, RASGRP1, RIPK1, SH2D1A, SOCS1, TET2, TGFB1, TNFRSF6 (FAS), TNFSF6 (FASLG), TNFRSF9, TPP2, XIAP Lab method: TAT: 6-9 weeks Specimen requirements: 2-4 ml of blood with anticoagulant EDTA 1
- [Antibody deficiency (a- and hypogammaglobulinemia)](https://www.asperbio.com/asper-immunogenetics/antibody-deficiency-a-and-hypogammaglobulinemia/) - Antibody deficiency (a- and hypogammaglobulinemia) Genes (full coding region): AICDA, ARHGEF1, ATP6AP1, BLNK, BTK, CARD11, CD19, CD79A, CD79B, CD81, CR2 (CD21), CTNNBL1, FNIP1, IGLL1, IKZF1, INO80, IRAK4, IRF2BP2, MOGS, MS4A1 (CD20), MSH6, MYD88, NFKB1, NFKB2, PIK3CD, PIK3R1, POU2AF1, PTEN, RAC2, SEC61A1, SH3KBP1, SLC39A7, SPI1, TCF3, TIRAP, TLR7, TLR8, TNFRSF13B, TNFRSF13C, TNFSF12, TNFSF13, TOP2B, TRNT1, UNG
- [Familial Hypercholesterolemia NGS panel](https://www.asperbio.com/asper-cardiogenetics/familial-hypercholesterolemia/ngs-panel) - Familial Hypercholesterolemia testing with next generation sequencing of a multigene panel
- [Perekondlik hüperkolesteroleemia](https://www.asperbio.com/asper-cardiogenetics/familial-hypercholesterolemia/ngs-panel) - Perekondliku hüperkolesteroleemia geneetiline testimine
- [Koostööprojektid](https://www.asperbio.com/et/koostooprojektid/) - Koostööprojektid Koostöö- ja arendusprojektid on ettevõtte igapäevase töö osaks. AB teekaart (DEP.1.01.24- 0088) Asper Biogene küberturvalisuse teekaardi koostamist perioodil 1.04-31.05.2024 kaasrahastas Euroopa Küberkompetentsikeskus oma liikmetega. EU48695 projekt CCHT Perioodil 1.12.2020 kuni 31.12.2023 osales Asper Biogene kahes alamprojektis: Rakendusuuringus, kus eesmärgiks on genoomika testidel põhinevate personaalmeditsiini lahenduste väljatöötamine komplekshaiguste (metaboolsed haigused,
- [Noonani spektri haigused/Rasopaatiad](https://www.asperbio.com/asper-cardiogenetics/noonan-syndrome/ngs-panel) - Noonani sündroomi geneetiline testimine
- [Mitokondriaalsed haigused](https://www.asperbio.com/asper-otogenetics/mitochondrial-diseases/) - Mitokondriaalse genoomi sekveneerimine Metoodika: Kodeeriva piirkonna sekveneerimine Heteroplasmiat alla 20% ei ole võimalik sekveneerimise teel määrata Testi valmimisaeg: 2-4 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl DNA saata toatemperatuuril või külmutatuna. A260/A280 suhe peaks olema 1.8-2.0. DNA peab
- [Juhtkond](https://www.asperbio.com/genetic-testing-company-management-team) - Asper Biogene geenitestid
- [Management team](https://www.asperbio.com/genetic-testing-company-management-team) - Asper Biogene management team
- [Asper Hematology](https://www.asperbio.com/asper-hematology/) - Asper Hematology tests are established to improve diagnosis and management of various blood disorders.
- [Asper Oncogenetics](https://www.asperbio.com/asper-oncogenetics/) - Hereditary Breast and Ovarian Cancer, BRCA, Lynch Syndrome, HNPCC, Familial Adenomatous Polyposis, FAP, Microsatellite instability, MSI
- [Geneetiline testimine](https://www.asperbio.com/next-generation-sequencing-service/NGS) - Geneetiline testimine Asper Biogene's hõlmab nii üksiku mutatsiooni analüüsi kui ka kogu eksoomi sekveneerimist.
- [Myotonia Congenita](https://www.asperbio.com/asper-neurogenetics/myotonia-congenita/) - Myotonia Congenita NGS panel Genes (full coding region): CLCN1, SCN4A, HINT1 List of diseases covered by the panel Lab method: TAT: 6-9 weeks Specimen requirements: 2-4 ml of blood with anticoagulant EDTA 1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl The A260/A280 ratio should be 1.8-2.0. DNA sample should be
- [List of diseases covered by Myotonia Congenita NGS panel](https://www.asperbio.com/asper-neurogenetics/myotonia-congenita/list-of-diseases-covered-by-myotonia-congenita-ngs-panel/) - List of diseases covered by Myotonia Congenita NGS panel Gene Condition CLCN1 Myotonia congenita, dominant; Myotonia congenita, recessive; Myotonia levior SCN4A Congenital myopathy 22A, classic;Congenital myopathy 22B, severe fetal; Hyperkalemic periodic paralysis; Hypokalemic periodic paralysis, type 2; Myasthenic syndrome, congenital, 16; Myotonia congenita, atypical, acetazolamide-responsive; Paramyotonia congenita HINT1 Neuromyotonia and axonal neuropathy, autosomal recessive
- [Metabolic Myopathy and Rhabdomyolysis](https://www.asperbio.com/asper-neurogenetics/metabolic-myopathy-and-rhabdomyolysis/) - Metabolic myopathy and rhabdomyolysis genetic testing by sequencing of multigene panel.
- [List of diseases covered by Metabolic Myopathy and Rhabdomyolysis NGS panel](https://www.asperbio.com/asper-neurogenetics/metabolic-myopathy-and-rhabdomyolysis/28248-2/) - List of diseases covered by Metabolic Myopathy and Rhabdomyolysis NGS panel
- [Munasarjavähiga seotud geenide sekveneerimine](https://www.asperbio.com/asper-oncogenetics/ovarian-cancer/) - Munasarjavähiga seotud geenide sekveneerimine Geenid: BRCA1, BRCA2, BRIP1, PALB2, RAD51C, RAD51D Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale. Testi valmimisaeg: 6-9 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl
- [Ovarian Cancer](https://www.asperbio.com/asper-oncogenetics/ovarian-cancer/) - Ovarian Cancer NGS panel Genes (full coding region): BRCA1, BRCA2, BRIP1, PAlb2, RAD51C, RAD51D List of diseases covered by the panel Lab method: TAT: 6-9 weeks Specimen requirements: 2-4 ml of blood with anticoagulant EDTA 1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl The A260/A280 ratio should be 1.8-2.0. DNA
- [List of diseases covered by Ovarian Cancer NGS panel](https://www.asperbio.com/asper-oncogenetics/ovarian-cancer/list-of-diseases-covered-by-ovarian-cancer-ngs-panel/) - List of diseases covered by Ovarian Cancer NGS panel Gene Condition BRCA1 Breast-ovarian cancer, familial, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S BRCA2 Fanconi anemia, complementation group D1; Wilms tumor; Breast cancer, male, susceptibility to; Breast-ovarian cancer, familial, 2; Glioblastoma 3; Medulloblastoma; Pancreatic cancer 2; Prostate cancer BRIP1 Breast cancer, early-onset;
- [List of diseases covered by Neutropenia NGS panel](https://www.asperbio.com/asper-hematology/neutropenia-ngs-panel/list-of-diseases-covered-by-neutropenia-ngs-panel/) - List of diseases covered by Neutropenia NGS panel Gene Condition AP3B1 Hermansky-Pudlak syndrome 2 CSF3R Neutropenia, severe congenital, 7, autosomal recessive CXCR2 WHIM syndrome 2 CXCR4 WHIM syndrome DNAJC21 Bone marrow failure syndrome 3 EFL1 Shwachman-Diamond syndrome 2 ELANE Neutropenia, cyclic; Neutropenia, severe congenital 1, autosomal dominant GATA1 Anemia, X-linked, with/without neutropenia and/or platelet abnormalities;
- [Neutropeeniaga seotud geenide sekveneerimine ](https://www.asperbio.com/asper-hematology/neutropenia-ngs-panel/) - Neutropeeniaga seotud geenide sekveneerimine Geenid: AP3B1, CSF3R, CXCR2, CXCR4, DNAJC21, EFL1, ELANE, GATA1, GATA2, GFI1, G6PC3, HAX1, JAGN1, LAMTOR2, LYST, RAB27A, RAC2, SBDS, SLC37A4, SMARCD2, SRP54, TAFAZZIN, USB1, VPS13B, VPS45, WAS, WIPF1 Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale. Testi valmimisaeg: 6-9 nädalat
- [Neutropenia NGS panel](https://www.asperbio.com/asper-hematology/neutropenia-ngs-panel/) - Neutropenia NGS panel Genes (full coding region): AP3B1, CSF3R, CXCR2, CXCR4, DNAJC21, EFL1, ELANE, GATA1, GATA2, GFI1, G6PC3, HAX1, JAGN1, LAMTOR2, LYST, RAB27A, RAC2, SBDS, SLC37A4, SMARCD2, SRP54, TAFAZZIN, USB1, VPS13B, VPS45, WAS, WIPF1 List of diseases covered by the panel Lab method: TAT: 6-9 weeks Specimen requirements: 2-4 ml of blood with anticoagulant EDTA
- [Metaboolne müopaatia ja rabdomüolüüs](https://www.asperbio.com/asper-metabolic-disorders/metabolic-myopathy-and-rhabdomyolysis/) - Metaboolse müopaatia ja rabdomüolüüsiga seotud geenide sekveneerimine
- [Metabolic Myopathy and Rhabdomyolysis](https://www.asperbio.com/asper-metabolic-disorders/metabolic-myopathy-and-rhabdomyolysis/) - Metabolic myopathy and rhabdomyolysis genetic testing by sequencing of multigene panel.
- [List of diseases covered by Metabolic Myopathy and Rhabdomyolysis NGS panel](https://www.asperbio.com/asper-metabolic-disorders/metabolic-myopathy-and-rhabdomyolysis/list-of-diseases-covered-by-metabolic-myopathy-and-rhabdomyolysis-ngs-panel/) - List of diseases covered by Metabolic Myopathy and Rhabdomyolysis NGS panel
- [Company profile](https://www.asperbio.com/genetic-testing-company/next-generation-sequencing/company-profile) - Asper Biogene is focused on diagnostics for rare and common hereditary diseases.
- [Pühadekaart](https://www.asperbio.com/et/puhadekaart/)
- [Holiday Card](https://www.asperbio.com/holiday-card/)
- [Küberründe teavitus](https://www.asperbio.com/et/veebilehe-teavitus/) - Asper Biogene OÜ veebilehe teavitus 14.12.2023 Meie süsteemi vastu tehtud küberründe tagajärjel on osade meie patsientide isikuandmed, sh terviseandmed, saanud teatavaks selleks õigustamata isikule. Politsei ja Prokuratuur on küberründe asjus alustanud kriminaalmenetlust. Andmekaitse Inspektsioon on juhtunust teadlik ja viib läbi järelevalvemenetlust. Küberrünne, andmeleke on peatatud ja infosüsteemide kaitsemeetmeid on tugevdatud. Oleme alustanud juhtunust puudutatud
- [Perekondliku mutatsiooni määramine](https://www.asperbio.com/asper-immunogenetics/familial-mutation-testing/) - Perekondliku mutatsiooni määramine Testi valmimisaeg: 1-4 nädalat Nõuded proovi- materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti)300 ng DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl DNA saata toatemperatuuril või külmutatuna. A260/A280 suhe peaks olema 1.8-2.0. DNA peab agaroosgeelis pikkusmarkeri juuresolekul olema detekteeritav ühe tervikliku bändina. Tellimine: Proovimaterjal saata koos saatekirjaga
- [Eksoomi sekveneerimine](https://www.asperbio.com/asper-immunogenetics/whole-exome-sequencing/) - Eksoomi sekveneerimine Geenid: Kogu eksoom Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale. Testi valmimisaeg: 10 nädalat Nõuded proovi- materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 4 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl A260/A280 suhe peaks
- [Pärilik vastuvõtlikkus viirushaigustele (sealhulgas herpesinfektsioonidele)](https://www.asperbio.com/asper-immunogenetics/genetic-susceptibility-to-viral-infections-including-herpes/) - Pärilik vastuvõtlikkus viirushaigustele (sealhulgas herpesinfektsioonidele) Geen: ATG4A, DBR1, FCGR3A, IFIH1, IFNAR1, IFNAR2, IRF3, IRF7, IRF9, MAP1LC3B2, NOS2, POLR3A, POLR3C, POLR3F, SNORA31, STAT1, STAT2, TBK1, TICAM1, TLR3, TRAF3, UNC93B1, ZNFX1 Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale. Testi valmimisaeg: 6-9 nädalat Nõuded proovi-materjalile: 2-4
- [Pärilik vastuvõtlikkus seeninfektsioonidele/kandidoosile](https://www.asperbio.com/asper-immunogenetics/genetic-susceptibility-to-fungal-infections-candidosis/) - Pärilik vastuvõtlikkus seeninfektsioonidele/kandidoosile Geen: AIRE, CARD9, CLEC7A, IL17F, IL17RA, IL17RC, MAPK8, STAT1, TRAF3IP2 Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale. Testi valmimisaeg: 6-9 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d elueerituna TE, AE puhvris või steriilses
- [Pärilik vastuvõtlikkus mükobakteriaalsetele haigustele](https://www.asperbio.com/asper-immunogenetics/genetic-susceptibility-to-mycobacterial-diseases/) - Pärilik vastuvõtlikkus mükobakteriaalsetele haigustele Geen: CYBB, IFNG, IFNGR1, IFNGR2, IL12B, IL12RB2, IL12RB1, IL23R, IRF8, ISG15, JAK1, RORC,SPPL2A, TBX21, TYK2 Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale. Testi valmimisaeg: 6-9 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d
- [Päriliku angioödeemiga (HAE) seotud geenide paneel](https://www.asperbio.com/asper-immunogenetics/hereditary-angioedema/) - Päriliku angioödeemiga (HAE) seotud geenide paneel Geen: ANGPT1, F12, HS3ST6, KNG1, MYOF, PLG, SERPING1 Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale. Testi valmimisaeg: 6-9 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d elueerituna TE, AE puhvris või
- [Primaarse tsiliaarse düskineesiaga seotud geenide paneelanalüüs](https://www.asperbio.com/asper-immunogenetics/primary-ciliary-dyskinesia/) - Primaarse tsiliaarse düskineesiaga seotud geenide paneelanalüüs Geen: CCDC39, CCDC40, CCDC65, CCDC103, CCNO, CFAP298, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAAF11 (LRRC6), DNAH1, DNAH5, DNAH8, DNAH11, DNAI1, DNAI2, DNAJB13, DNAL1, DRD1, GAS8, HYDIN, MCIDAS, NME8, OFD1, ODAD1 (CCDC114), ODAD2 (ARMC4), ODAD3 (CCDC151), ODAD4 (TTC25), RPGR, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, STK36, ZMYND10 Metoodika: Kodeeriva piirkonna sekveneerimine
- [Krooniline granulomatoostõbi](https://www.asperbio.com/asper-immunogenetics/chronic-granulomatous-disease/) - Krooniline granulomatoostõbi Geen: CYBA, CYBB, CYBC1, G6PD. NCF1, NCF2, NCF4 Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale. Testi valmimisaeg: 6-9 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250
- [Kombineeritud immuunpuudulikkusega seotud geenide paneel](https://www.asperbio.com/asper-immunogenetics/combined-immunodeficiency/) - Kombineeritud immuunpuudulikkusega seotud geenide paneel Geen: ADA, AK2, B2M, BCL10, CARD11, CD247, CD3D, CD3E, CD3G, CD3Z, CD40, CD40LG, CD8A, CHD7, CHUK, CIITA, COPG1, CORO1A, DCLRE1C, DOCK2, DOCK8, FCHO1, FOXN1, ICOS, ICOSLG, IKBKB, IKZF1, IKZF2, IL2RG, IL21, IL21R, IL7R, IRAK4, ITK, ITPKB, JAK3, LAT, LCK, LIG4, LPC2 (ANXA2), MALT1, MAN2B2, MAP3K14, MSN, MTHFD1, MYD88, NBN (NBS1),
- [Hüper IgE sündroomidega seotud geenide paneel](https://www.asperbio.com/asper-immunogenetics/hyper-ige-syndrome/) - Hüper IgE sündroomidega seotud geenide paneel Geen: CARD11, ERBIN (ERBB2IP), IL6R, IL6ST, PGM3, SPINK5, STAT3, TGFBR1, TGFBR2, ZNF341 Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale. Testi valmimisaeg: 6-9 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d elueerituna
- [Autoimmuunsuse ja lümfoproliferatsiooniga seotud geenide paneel](https://www.asperbio.com/asper-immunogenetics/autoimmunity-and-lymphoproliferation/) - Autoimmuunsuse ja lümfoproliferatsiooniga seotud geenide paneel Geen: AIRE, CARMIL2, CASP8, CASP10, CD27, CD70, CTPS1, ELF4, FADD, IL10, IL10RA, IL10RB, ITCH, JAK1, MAGT1, NFAT5, PDCD1, PEPD, PRKCD, RASGRP1, RIPK1, SH2D1A, SOCS1, TET2, TGFB1, TNFRSF6 (FAS), TNFSF6 (FASLG), TNFRSF9, TPP2, XIAP Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub
- [Asper Immunogenetics testid](https://www.asperbio.com/asper-immunogenetics/) - Asper Immunogenetics Antikehade puudulikkus (a- ja hüpogammaglobulineemia) UUENDATUD Autoimmuunsus ja lümfoproliferatsioon Hüper-IgE-sündroom Kombineeritud immuunpuudulikkus UUENDATUD Krooniline granulomatoostõbi Primaarne tsiliaarne düskinees Pärilik angioödeem (HAE) Pärilikud autoinflamatoorsed seisundid Pärilik vastuvõtlikkus mükobakteriaalsetele haigustele Pärilik vastuvõtlikkus seeninfektsioonidele/kandidoosile Pärilik vastuvõtlikkus viirushaigustele (sealhulgas herpesinfektsioonidele) Eksoomi sekveneerimine Perekondliku mutatsiooni määramine
- [Cancer Predisposition](https://www.asperbio.com/asper-oncogenetics/cancer-predisposition-genetic-testing-ngs-panel) - Cancer predisposition testing by NGS panel of 92 genes
- [Päriliku vähi eelsoodumuse määramine](https://www.asperbio.com/asper-oncogenetics/cancer-predisposition-genetic-testing-ngs-panel) - Cancer predisposition testing by NGS panel of 92 genes
- [Breast and Ovarian Cancer](https://www.asperbio.com/asper-oncogenetics/breast-and-ovarian-cancer-genetic-testing-brca-ngs-panel) - Hereditary breast and ovarian cancer testing by NGS panel and targeted mutation analysis
- [Rinna- ja munasarjavähk](https://www.asperbio.com/asper-oncogenetics/breast-and-ovarian-cancer-genetic-testing-brca-ngs-panel) - Rinna- ja munasarjavähi geneetiline testimine
- [Polyposis Syndromes](https://www.asperbio.com/asper-oncogenetics/polyposis-syndromes-genetic-testing-ngs-panel) - Polyposis Syndromes testing by next generation sequencing of a multigene panel
- [Polüpoosi sündroomid](https://www.asperbio.com/asper-oncogenetics/polyposis-syndromes-genetic-testing-ngs-panel) - Polyposis Syndromes testing by next generation sequencing of a multigene panel
- [Asper Immunogenetics](https://www.asperbio.com/asper-immunogenetics/) - Asper Immunogenetics Antibody Deficiency (a- and hypogammaglobulinemia) UPDATED Autoimmunity and Lymphoproliferation Hyper IgE Syndrome Combined immunodeficiency UPDATED Chronic granulomatous disease Primary ciliary dyskinesia Hereditary angioedema Hereditary autoinflammatory syndrome Genetic susceptibility to mycobacterial diseases Genetic susceptibility to fungal infections/candidosis Genetic susceptibility to viral infections (including herpes) Whole Exome Sequencing Familial mutation testing
- [Antikehade puudulikkusega (a- ja hüpogammaglobulineemiaga) seotud geenide paneel](https://www.asperbio.com/asper-immunogenetics/antibody-deficiency-a-and-hypogammaglobulinemia/) - Antikehade puudulikkusega (a- ja hüpogammaglobulineemiaga) seotud geenide paneel Geen: AICDA, ARHGEF1, ATP6AP1, BLNK, BTK, CARD11, CD19, CD79A, CD79B, CD81, CR2 (CD21), CTNNBL1, FNIP1, IGLL1, IKZF1, INO80, IRAK4, IRF2BP2, MOGS, MS4A1 (CD20), MSH6, MYD88, NFKB1, NFKB2, PIK3CD, PIK3R1, POU2AF1, PTEN, RAC2, SEC61A1, SH3KBP1, SLC39A7, SPI1, TCF3, TIRAP, TLR7, TLR8, TNFRSF13B, TNFRSF13C, TNFSF12, TNFSF13, TOP2B, TRNT1, UNG
- [Asper Nephrology](https://www.asperbio.com/asper-nephrology/) - Asper Nephrology Bardet Biedl Syndrome Bartter Syndrome Branchiootorenal Syndrome Ciliopathy Hemolytic Uremic Syndrome Hypomagnesemia Nephronophthisis Nephrotic Syndrome Polycystic Kidney Disease Primary Ciliary Dyskinesia Senior-Loken Syndrome Whole Exome Sequencing Asper Nephrology offers gene panels for the diagnostics of hereditary renal diseases, including common monogenic diseases such as polycystic kidney disease, as well as complex disorders. To
- [Asper Otogenetics](https://www.asperbio.com/asper-otogenetics/) - Asper Otogenetics includes multi-gene screening panels for the detection of genetic causes of syndromic and non-syndromic hearing loss and deafness
- [Asper Dysmorphology](https://www.asperbio.com/asper-dysmorphology/) - Asper Dysmorphology embraces congenital abnormalities associated tests.
- [Brain malformations NGS panel](https://www.asperbio.com/asper-dysmorphology/brain-malformations-ngs-panel/) - NGS-based test covers the entire coding region of 147 genes associated with brain malformations
- [Aju malformatsioonid](https://www.asperbio.com/et/asper-dysmorphology-testid/aju-malformatsioonid/) - Aju malformatsioonidega seotud geenide sekveneerimine Geenid: ACTB, ACTG1, ADGRG1, AHI1, AKT1, AKT3, AMPD2, AMT, ANKLE2, AP4B1, AP4E1, AP4M1, AP4S1, APC2, ARFGEF2, ARL13B, ARX, ASNS, ASPM, ATP6V0A2, ATR, ATRX, B3GALNT2, B4GAT1, B9D1, B9D2, BICD2, C2CD3, C5orf42(CPLANE1), CASK, CC2D2A, CCDC22, CCND2, CDC45, CDC6, CDK5RAP2, CDK6, CDON, CDT1, CENPE, CENPF, CENPJ, CEP120, CEP135, CEP152, CEP290, CEP41, CEP63, CHD7, CHMP1A,
- [Trombofiilia](https://www.asperbio.com/asper-cardiogenetics/thrombophilia/) - Trombofiilia päriliku eelsoodumuse määramine
- [Thrombophilia](https://www.asperbio.com/asper-cardiogenetics/thrombophilia/) - Determination of the predisposing genetic factors for thrombosis - factor V Leiden mutation, the prothrombin mutation, and mutations of the MTHFR gene
- [List of diseases covered by Left Ventricular Noncompaction Cardiomyopathy NGS panel](https://www.asperbio.com/asper-cardiogenetics/left-ventricular-noncompaction-cardiomyopathy-ngs-panel/list-of-diseases-covered-by-left-ventricular-noncompaction-cardiomyopathy-ngs-panel/) - List of diseases covered by Left Ventricular Noncompaction Cardiomyopathy NGS panel
- [Left Ventricular Noncompaction Cardiomyopathy NGS panel](https://www.asperbio.com/asper-cardiogenetics/left-ventricular-noncompaction-cardiomyopathy-ngs-panel/) - Left Ventricular Noncompaction Cardiomyopathy testing by NGS panel
- [Vasaku vatsakese mitte-kompaktse kardiomüopaatiaga  seotud geenide sekveneerimine](https://www.asperbio.com/asper-cardiogenetics/left-ventricular-noncompaction-cardiomyopathy-ngs-panel/) - Vasaku vatsakese mitte-kompaktse kardiomüopaatiaga seotud geenide sekveneerimine Geenid: ACTC1, CASQ2, DTNA, FLNC, LDB3, LMNA, MIB1, MYBPC3, MYH7, PRDM16, TAZ, TNNT2, TPM1, VCL Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale. Testi valmimisaeg: 6-9 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti)
- [Asper Cardiogenetics](https://www.asperbio.com/asper-cardiogenetics/) - Brugada Syndrome, Familial Hypercholesterolemia, Long QT Syndrome, Marfan Syndrome, Noonan Syndrome, Statin-Induced Myopathy
- [List of diseases covered by Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy NGS panel](https://www.asperbio.com/asper-cardiogenetics/arrhythmogenic-right-ventricular-dysplasiacardiomyopathy-ngs-panel/list-of-diseases-covered-by-arrhythmogenic-right-ventricular-dysplasia-cardiomyopathy-ngs-panel/) - List of diseases covered by Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy NGS panel
- [List of diseases covered by Arrhythmia NGS panel](https://www.asperbio.com/asper-cardiogenetics/arrhythmia/list-of-diseases-covered-by-arrhythmia-ngs-panel/) - List of diseases covered by Arrhythmia NGS panel
- [Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy NGS panel](https://www.asperbio.com/asper-cardiogenetics/arrhythmogenic-right-ventricular-dysplasiacardiomyopathy-ngs-panel/) - Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy testing by NGS panel of 14 genes
- [Arütmogeenne parema vatsakese düsplaasia/kardiomüopaatia](https://www.asperbio.com/asper-cardiogenetics/arrhythmogenic-right-ventricular-dysplasiacardiomyopathy-ngs-panel/) - Arütmogeenne parema vatsakese düsplaasia/kardiomüopaatia
- [Arütmia](https://www.asperbio.com/asper-cardiogenetics/arrhythmia/) - Arütmiaga seotud geenide sekveneerimine
- [Arrhythmia](https://www.asperbio.com/asper-cardiogenetics/arrhythmia/) - Arrhythmia genetic testing by sequencing of the multigene panel.
- [Hereditary Spastic Paraplegia NGS panel](https://www.asperbio.com/asper-neurogenetics/hereditary-spastic-paraplegia/ngs-panel) - Hereditary Spastic Paraplegia testing with next generation sequencing of a multigene panel and targeted mutation analysis
- [Leukodystrophy and Leukoencephalopathy NGS panel](https://www.asperbio.com/asper-neurogenetics/leukodystrophy-and-leukoencephalopathy-ngs-panel/) - Leukodystrophy and Leukoencephalopathy testing by next generation sequencing of the multigene panel
- [Dilated Cardiomyopathy NGS panel](https://www.asperbio.com/asper-cardiogenetics/dilated-cardiomyopathy-ngs-panel/) - Dilated Cardiomyopathy
- [Dilateeruv kardiomüopaatia](https://www.asperbio.com/asper-cardiogenetics/dilated-cardiomyopathy-ngs-panel/) - Dilateeruva kardiomüopaatiaga seotud geenide sekveneerimine
- [Brugada sündroom](https://www.asperbio.com/asper-cardiogenetics/brugada-syndrome/ngs-panel) - Brugada sündroomi geneetiline testimine
- [Brugada Syndrome NGS panel](https://www.asperbio.com/asper-cardiogenetics/brugada-syndrome/ngs-panel) - Brugada syndrome testing with next generation sequencing of a multigene pane
- [Asper Immunogenetics submission form](https://www.asperbio.com/asper-immunogenetics-submission-form/)
- [Komplemendi defitsiit (välja arvatud HAE)](https://www.asperbio.com/et/asper-immunogenetics-testid/komplemendi-defitsiit-valja-arvatud-hae/) - Komplemendi defitsiit (välja arvatud HAE) Geen: CD46, CD55, CD59, CFB, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFP, C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4A, C4B, C5, C6, C7, C8A, C8B, C8G, C9, FCN3, MASP2, SERPING1, THBD Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub
- [Glutaric Aciduria, type 1 & type 2](https://www.asperbio.com/asper-metabolic-disorders/glutaric-aciduria-type-1-and-2/) - Glutaric Aciduria, type 1 & type 2 related genes sequencing
- [Citrullinemia, type 1 & type 2](https://www.asperbio.com/asper-metabolic-disorders/citrullinemia-type-1-and-2) - Citrullinemia, type 1 & type 2 genes sequencing
- [Tsitrullineemia, tüüp I ja II](https://www.asperbio.com/et/asper-metabolic-disorders-testid/tsitrullineemia-tuup-i-ja-ii/) - I ja II tüüpi tsitrullineemiaga seotud geenide sekveneerimine
- [Glutaaratsiduuria, tüüp I ja II](https://www.asperbio.com/et/asper-metabolic-disorders-testid/glutaaratsiduuria-tuup-i-ja-ii/) - Glutaaratsiduuriaga seotud geenide sekveneerimine
- [Uurea tsükli häired](https://www.asperbio.com/et/asper-metabolic-disorders-testid/uurea-tsukli-haired/) - Uurea tsükli häiretega seotud geenide sekveneerimine
- [Metüülmalonaatatsiduuria ja homotsüstinuuria](https://www.asperbio.com/et/asper-metabolic-disorders-testid/metuulmalonaatatsiduuria-ja-homotsustinuuria/) - Metüülmalonaat atsiduuriaga ja homotsüstinuuriaga seotud geenide sekveneerimine
- [Hereditary Ataxia](https://www.asperbio.com/asper-neurogenetics/hereditary-ataxia/) - NGS panel covers 148 genes associated with spinocerebellar ataxia, episodic ataxia, cerebellar ataxia, and selected disease-associated non-coding variants.
- [Myotonic dystrophy, type II](https://www.asperbio.com/asper-neurogenetics/myotonic-dystrophy-type-ii/) - Myotonic dystrophy, type II (DM2) Genes (full coding region): CNBP Lab method: TAT: 2-4 weeks Specimen requirements: 2-4 ml of blood with anticoagulant EDTA 4 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single
- [Myotonic dystrophy, type I](https://www.asperbio.com/asper-neurogenetics/myotonic-dystrophy-type-i/) - Myotonic dystrophy, type I (DM1) Genes (full coding region): DMPK Lab method: TAT: 2-4 weeks Specimen requirements: 2-4 ml of blood with anticoagulant EDTA 4 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single
- [Asper Biogene](https://www.asperbio.com/)
- [Oculopharyngeal Muscular Dystrophy](https://www.asperbio.com/asper-neurogenetics/oculopharyngeal-muscular-dystrophy/) - Oculopharyngeal Muscular Dystrophy Genes (full coding region): OPMD (PABPN1) Lab method: TAT: 2-4 weeks Specimen requirements: 2-4 ml of blood with anticoagulant EDTA 4 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, Oculopharyngeal muscular dystrophy (OPMD)
- [Spinocerebellar ataxia type 12](https://www.asperbio.com/asper-neurogenetics/spinocerebellar-ataxia-type-12/) - Spinocerebellar ataxia 12 Genes (full coding region): PPP2R2B Lab method: TAT: 2-4 weeks Specimen requirements: 2-4 ml of blood with anticoagulant EDTA 4 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single Spinocerebellar ataxia type 12, PPP2R2B
- [Unverricht-Lundborg disease](https://www.asperbio.com/asper-neurogenetics/unverricht-lundborg-disease/) - Unverricht-Lundborg disease Genes (full coding region): EPM1(CSTB) Lab method: TAT: 2-4 weeks Specimen requirements: 2-4 ml of blood with anticoagulant EDTA 4 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no
- [Charcot-Marie-Tooth Disease](https://www.asperbio.com/asper-neurogenetics/charcot-marie-tooth-disease/) - Charcot-Marie-Tooth Disease testing with next generation sequencing of a multigene panel or deletion/duplication analysis of PMP22 gene
- [Mitochondrial Diseases](https://www.asperbio.com/asper-metabolic-disorders/mitochondrial-diseases/) - Mitochondrial Diseases Mitochondrial genome sequencing Lab method: TAT: 2-4 weeks Specimen requirements: 2-4 ml of blood with anticoagulant EDTA 1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside
- [List of diseases covered by nuclear genes NGS panel](https://www.asperbio.com/asper-metabolic-disorders/mitochondrial-diseases/list-of-diseases-covered-by-nuclear-genes-ngs-panel/) - List of diseases covered by nuclear genes NGS panel Gene Condition AARS2 Combined oxidative phosphorylation deficiency 8; Leukoencephalopathy, progressive, with ovarian failure AASS Hyperlysinemia ABAT GABA-transaminase deficiency ABCB6 Dyschromatosis universalis hereditaria 3; Microphthalmia, isolated, with coloboma 7; Pseudohyperkalemia, familial, 2, due to red cell leak; [Blood group, Langereis system] ABCB7 Anemia, sideroblastic, with ataxia ABCD1
- [Mitokondriaalsed haigused](https://www.asperbio.com/asper-metabolic-disorders/mitochondrial-diseases/) - Mitokondriaalse genoomi sekveneerimine Metoodika: Kodeeriva piirkonna sekveneerimine Heteroplasmiat alla 20% ei ole võimalik sekveneerimise teel määrata Testi valmimisaeg: 2-4 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl DNA saata toatemperatuuril või külmutatuna. A260/A280 suhe peaks olema 1.8-2.0. DNA peab
- [Multiple endocrine neoplasia syndrome](https://www.asperbio.com/asper-endocrinology/multiple-endocrine-neoplasia-syndrome/) - Multiple endocrine neoplasia syndrome Genes: MEN1, MEN2 (RET) Lab method: TAT: 6-9 weeks Specimen requirements: 2-4 ml of blood with anticoagulant EDTA 1,2 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band,
- [Mitmikendokriinsete neoplaasiate sündroom](https://www.asperbio.com/et/asper-oncogenetics-testid/mitmikendokriinsete-neoplaasiate-sundroom-2/) - Mitmikendokriinsete neoplaasiate sündroomiga seotud geenide sekveneerimine Geenid: MEN1, MEN2 (RET) Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Testi valmimisaeg: 6-9 nädalat Nõuded proovi- materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl A260/A280 suhe peaks olema 1.8-2.0. DNA peab agaroosgeelis pikkusmarkeri juuresolekul olema detekteeritav ühe
- [Mitmikendokriinsete neoplaasiate sündroomiga seotud geenide sekveneerimine](https://www.asperbio.com/et/asper-endocrinology-testid/mitmikendokriinsete-neoplaasiate-sundroom/) - Mitmikendokriinsete neoplaasiate sündroomiga seotud geenide sekveneerimine Geenid: MEN1, MEN2 (RET) Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Testi valmimisaeg: 6-9 nädalat Nõuded proovi- materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl DNA saata toatemperatuuril või külmutatuna. A260/A280 suhe peaks olema 1.8-2.0. DNA peab agaroosgeelis olema Mitmik endokriinneuplaasiate sündroom, MEN1, MEN2 (RET)
- [Bardet Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson-Forssman-Lehmann Syndrome, Alström Syndrome, Albright Hereditary Osteodystrophy](https://www.asperbio.com/asper-dysmorphology/bardet-biedl-syndrome/) - Bardet-Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson-Forssman-Lehmann Syndrome, Alström Syndrome, Albright Hereditary Osteodystrophy NGS panel Genes (full coding region): ALMS1 (excluding exon 8), ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, CCDC28B, CEP290, GNAS, IFT27, IFT172, LZTFL1, MKKS, MKS1, PHF6, SDCCAG8, TMEM67, TRIM32, TTC8, WDPCP List of diseases covered by the panel Lab method: TAT: 6-9 weeks
- [List of diseases covered by Bardet-Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson-Forssman-Lehmann Syndrome, Alström Syndrome, Albright Hereditary Osteodystrophy NGS panel](https://www.asperbio.com/asper-dysmorphology/bardet-biedl-syndrome-mckusick-kaufman-syndrome-borjeson-forssman-lehmann-syndrome-alstrom-syndrome-albright-hereditary-osteodystrophy/list-of-diseases-covered-by-bardet) - List of diseases covered by Bardet-Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson-Forssman-Lehmann Syndrome, Alström Syndrome, Albright Hereditary Osteodystrophy NGS panel Gene Condition ALMS1 Alstrom syndrome ARL6 Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 BBIP1 Bardet-Biedl syndrome 18 BBS1 Bardet-Biedl syndrome 1 BBS2 Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 BBS4 Bardet-Biedl syndrome 4 BBS5 Bardet-Biedl syndrome 5 BBS7 Bardet-Biedl
- [Bardet-Biedli-, McKusick-Kaufmani-, Borjeson-Forssman-Lehmanni- ja Alstromi sündroom ning Albrighti pärilik osteodüstroofia](https://www.asperbio.com/et/asper-dysmorphology-testid/bardet-biedli/) - Bardet-Biedli-, McKusick-Kaufmani-, Borjeson-Forssman-Lehmanni-, Alströmi sündroomiga ja Albrighti päriliku osteodüstroofiaga seotud geenide sekveneerimine Geenid: ALMS1 (v.a. ekson 8), ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, CCDC28B, CEP290, GNAS, IFT27, IFT172, LZTFL1, MKKS, MKS1, PHF6, SDCCAG8, TMEM67, TRIM32, TTC8, WDPCP Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina,
- [Jouberti sündroom](https://www.asperbio.com/asper-dysmorphology/joubert-syndrome-ngs-panel/) - Jouberti sündroomi geneetiline testimine
- [Ehlers-Danlos Syndrome](https://www.asperbio.com/asper-dysmorphology/ehlers-danlos-syndrome/) - Ehlers-Danlos Syndrome NGS panel Genes (full coding region): ADAMTS2, AEBP1, ALDH18A1, ATP7A, ATP6V0A2, B3GALT6, B3GAT3, B4GALT7, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, C1R, C1S, GORAB, DSE, EFEMP2, ELN, FBLN5, FBN1, FKBP14, FLNA, LTBP4, PLOD1, PRDM5, PYCR1, RIN2, SLC39A13, SMAD2, SMAD3, TGFB2, TGFBR1, TGFBR2, TNXB, ZNF469 List of diseases covered by the panel Lab method:
- [List of diseases covered by Ehlers-Danlos Syndrome NGS panel](https://www.asperbio.com/asper-dysmorphology/ehlers/list-of-diseases-covered-by-ehlers-danlos-syndrome-ngs-panel/) - List of diseases covered by Ehlers-Danlos Syndrome NGS panel Gene Condition ADAMTS2 Ehlers-Danlos syndrome, dermatosparaxis type AEBP1 Ehlers-Danlos syndrome, classic-like, 2 ALDH18A1 Cutis laxa, autosomal dominant 3; Cutis laxa, autosomal recessive, type IIIA; Spastic paraplegia 9A, autosomal dominant; Spastic paraplegia 9B, autosomal recessive ATP7A Occipital horn syndrome; Menkes disease; Spinal muscular atrophy, distal, X-linked 3
- [](https://www.asperbio.com/asper-dysmorphology/ehlers-danlos-syndrome/) - Ehlers-Danlos sündroomiga seotud geenide sekveneerimine Geenid: ADAMTS2, AEBP1, ALDH18A1, ATP7A, ATP6V0A2, B3GALT6, B3GAT3, B4GALT7, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, C1R, C1S, GORAB, DSE, EFEMP2, ELN, FBLN5, FBN1, FKBP14, FLNA, LTBP4, PLOD1, PRDM5, PYCR1, RIN2, SLC39A13, SMAD2, SMAD3, TGFB2, TGFBR1, TGFBR2, TNXB, ZNF469 Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV
- [List of diseases covered by the panel](https://www.asperbio.com/asper-cardiogenetics/mitochondrial-diseases/list-of-diseases-covered-by-the-panel/) - List of diseases covered by nuclear genes NGS panel Gene Condition AARS2 Combined oxidative phosphorylation deficiency 8; Leukoencephalopathy, progressive, with ovarian failure AASS Hyperlysinemia ABAT GABA-transaminase deficiency ABCB6 Dyschromatosis universalis hereditaria 3; Microphthalmia, isolated, with coloboma 7; Pseudohyperkalemia, familial, 2, due to red cell leak; [Blood group, Langereis system] ABCB7 Anemia, sideroblastic, with ataxia ABCD1
- [Mitochondrial Diseases](https://www.asperbio.com/asper-cardiogenetics/mitochondrial-diseases/) - Mitochondrial Diseases Mitochondrial genome sequencing Lab method: TAT: 2-4 weeks Specimen requirements: 2-4 ml of blood with anticoagulant EDTA 1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside
- [Mitochondrial Diseases](https://www.asperbio.com/asper-otogenetics/mitochondrial-diseases/) - Mitochondrial Diseases Mitochondrial genome sequencing Lab method: TAT: 2-4 weeks Specimen requirements: 2-4 ml of blood with anticoagulant EDTA 1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside
- [List of diseases covered by nuclear genes NGS panel](https://www.asperbio.com/asper-otogenetics/mitochondrial-diseases/list-of-diseases-covered-by-nuclear-genes-ngs-panel/) - List of diseases covered by nuclear genes NGS panel Gene Condition AARS2 Combined oxidative phosphorylation deficiency 8; Leukoencephalopathy, progressive, with ovarian failure AASS Hyperlysinemia ABAT GABA-transaminase deficiency ABCB6 Dyschromatosis universalis hereditaria 3; Microphthalmia, isolated, with coloboma 7; Pseudohyperkalemia, familial, 2, due to red cell leak; [Blood group, Langereis system] ABCB7 Anemia, sideroblastic, with ataxia ABCD1
- [List of diseases covered by nuclear genes NGS panel](https://www.asperbio.com/asper-neurogenetics/mitochondrial-diseases/list-of-diseases-covered-by-nuclear-genes-ngs-panel/) - List of diseases covered by nuclear genes NGS panel
- [Mitokondriaalsed haigused](https://www.asperbio.com/asper-cardiogenetics/mitochondrial-diseases/) - Mitokondriaalse genoomi sekveneerimine Metoodika: Kodeeriva piirkonna sekveneerimine Heteroplasmiat alla 20% ei ole võimalik sekveneerimise teel määrata Testi valmimisaeg: 2-4 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl DNA saata toatemperatuuril või külmutatuna. A260/A280 suhe peaks olema 1.8-2.0. DNA peab
- [Asper Dermatology](https://www.asperbio.com/asper-dermatology/) - Cutis Laxa, Ehlers-Danlos Syndrome, Epidermolysis Bullosa, Hermansky-Pudlak Syndrome, Hypotrichosis, Ichthyosis, Melanoma, Neurofibromatosis, Oculocutaneous Albinism, Palmoplantar Keratoderma, Tuberous sclerosis, Waardenburg Syndrome
- [Tuberoosne skleroos](https://www.asperbio.com/asper-oncogenetics/tuberous-sclerosis-ngs-panel/) - Tuberoosse skleroosiga seotud geenide sekveneerimine Geenid: TSC1, TSC2 Mittekodeeriv ala: Mittekodeerivad geneetilised variandid Metoodika: Kodeeriva piirkonna sekveneerimine (NGS) Testi valmimisaeg: 6-9 nädalat Nõuded proovi- materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl A260/A280 suhe peaks olema 1.8-2.0. DNA peab agaroosgeelis pikkusmarkeri
- [Tuberoosse skleroosi paneeli mittekodeerivad geneetilised variandid](https://www.asperbio.com/asper-oncogenetics/tuberous-sclerosis-ngs-panel/list-of-non-coding-variants-covered-by-tuberous-sclerosis-ngs-panel/) - Tuberoosse skleroosi paneeli mittekodeerivad geneetilised variandid Geen Muutus TSC2 c.-30+1G>C TSC2 c.848+281C>T TSC2 c.976-15G>A TSC2 c.2838-122G>A
- [Tuberous Sclerosis NGS panel](https://www.asperbio.com/asper-oncogenetics/tuberous-sclerosis-ngs-panel/) - Tuberous Sclerosis NGS panel Genes: (full coding region) TSC1, TSC2 Non-coding variants: List of non-coding variants covered by the panel Lab method: TAT: 6-9 weeks Specimen requirements: 2-4 ml of blood with anticoagulant EDTA 1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl The A260/A280 ratio should be 1.8-2.0. DNA sample
- [List of non-coding variants covered by Tuberous Sclerosis NGS panel](https://www.asperbio.com/asper-oncogenetics/tuberous-sclerosis-ngs-panel/list-of-non-coding-variants-covered-by-tuberous-sclerosis-ngs-panel/) - List of non-coding variants covered by Tuberous Sclerosis NGS panel Gene Non-coding variant TSC2 c.-30+1G>C TSC2 c.848+281C>T TSC2 c.976-15G>A TSC2 c.2838-122G>A
- [Neurofibromatoosiga seotud geenide sekveneerimine](https://www.asperbio.com/asper-oncogenetics/neurofibromatosis-ngs-panel/) - Neurofibromatoosiga seotud geenide sekveneerimine Geen: CCND1, LZTR1, NF1, NF2, SMARCB1, SPRED1, TSC1, TSC2, VHL Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale. Testi valmimisaeg: 6-9 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d elueerituna TE, AE puhvris või
- [Fragile X Syndrome](https://www.asperbio.com/asper-neurogenetics/fragile-x-syndrome/) - Repeat Expansion/Fragment Length Analysis of FMR1 gene
- [Neurofibromatosis NGS panel](https://www.asperbio.com/asper-neurogenetics/neurofibromatosis-ngs-panel/) - Neurofibromatosis NGS panel Genes: (full coding region) CCND1, LZTR1, NF1, NF2, SMARCB1, SPRED1, TSC1, TSC2, VHL List of diseases covered by the panel Lab method: TAT: 6-9 weeks Specimen requirements: 2-4 ml of blood with anticoagulant EDTA 1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl The A260/A280 ratio should be
- [List of diseases covered by Neurofibromatosis NGS panel](https://www.asperbio.com/asper-neurogenetics/neurofibromatosis-ngs-panel/list-of-diseases-covered-by-neurofibromatosis-ngs-panel/) - List of diseases covered by Neurofibromatosis NGS panel Gene Condition CCND1 von Hippel-Lindau syndrome, modifier of LZTR1 Schwannomatosis-2, susceptibility to NF1 Neurofibromatosis-Noonan syndrome; Neurofibromatosis, familial spinal; Neurofibromatosis, type 1; Watson syndrome NF2 Meningioma, NF2-related, somatic; Neurofibromatosis, type 2; Schwannomatosis, somatic SMARCB1 Rhabdoid tumor predisposition syndrome 1; Schwannomatosis-1, susceptibility to; Coffin-Siris syndrome 3 SPRED1 Legius syndrome TSC1
- [Neurofibromatosis NGS panel](https://www.asperbio.com/asper-oncogenetics/neurofibromatosis-ngs-panel/) - Neurofibromatosis NGS panel Genes: (full coding region) CCND1, LZTR1, NF1, NF2, SMARCB1, SPRED1, TSC1, TSC2, VHL List of diseases covered by the panel Lab method: TAT: 6-9 weeks Specimen requirements: 2-4 ml of blood with anticoagulant EDTA 1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl The A260/A280 ratio should be
- [List of diseases covered by Neurofibromatosis NGS panel](https://www.asperbio.com/asper-oncogenetics/neurofibromatosis-ngs-panel/list-of-diseases-covered-by-neurofibromatosis-ngs-panel/) - List of diseases covered by Neurofibromatosis NGS panel Gene Condition CCND1 von Hippel-Lindau syndrome, modifier of LZTR1 Schwannomatosis-2, susceptibility to NF1 Neurofibromatosis-Noonan syndrome; Neurofibromatosis, familial spinal; Neurofibromatosis, type 1; Watson syndrome NF2 Meningioma, NF2-related, somatic; Neurofibromatosis, type 2; Schwannomatosis, somatic SMARCB1 Rhabdoid tumor predisposition syndrome 1; Schwannomatosis-1, susceptibility to; Coffin-Siris syndrome 3 SPRED1 Legius syndrome TSC1
- [Mikrotsefaalia](https://www.asperbio.com/asper-dysmorphology/microcephaly-ngs-panel/) - AP4M1, ASPM, CASC5, CASK, CDK5RAP2, CENPJ, CEP63, CEP135, CEP152, EFTUD2, IER3IP1, KIF11, MCPH1, NDE1, NHEJ1, PAFAH1B1, PCNT, PNKP, POMT1, SLC25A19, STIL, TUBB2B, TUBGCP6, WDR62
- [List of diseases covered by Microcephaly NGS panel](https://www.asperbio.com/asper-dysmorphology/microcephaly-ngs-panel/list-of-diseases-covered-by-microcephaly-ngs-panel/) - List of diseases covered by Microcephaly NGS panel
- [Microcephaly NGS panel](https://www.asperbio.com/asper-dysmorphology/microcephaly-ngs-panel/) - NGS-based test covers the entire coding region of 24 genes associated with microcephaly
- [Joubert Syndrome NGS panel](https://www.asperbio.com/asper-dysmorphology/joubert-syndrome-ngs-panel/) - NGS-based test covers the entire coding region of 29 genes associated with Jouber Syndrome
- [List of diseases covered by Joubert Syndrome NGS panel](https://www.asperbio.com/asper-dysmorphology/joubert-syndrome-ngs-panel/list-of-diseases-covered-by-joubert-syndrome-ngs-panel/) - List of diseases covered by Joubert Syndrome NGS panel
- [List of diseases covered by Charcot-Marie-Tooth Disease NGS panel](https://www.asperbio.com/asper-neurogenetics/charcot-marie-tooth-disease/list-of-diseases-covered-by-charcot-marie-tooth-disease-ngs-panel/) - List of diseases covered by Charcot-Marie-Tooth Disease NGS panel
- [Mitochondrial Diseases](https://www.asperbio.com/asper-neurogenetics/mitochondrial-diseases/) - Mitochondrial Disease testing provides sequencing of mitochondrial genome, as well as analysis of nuclear genes associated with mitochondrial diseases
- [List of diseases covered by Hereditary Spastic Paraplegia NGS panel](https://www.asperbio.com/asper-neurogenetics/hereditary-spastic-paraplegia/list-of-diseases-covered-by-hereditary-spastic-paraplegia-ngs-panel/) - List of diseases covered by Hereditary Spastic Paraplegia NGS panel
- [List of diseases covered by Leukodystrophy and Leukoencephalopathy NGS panel](https://www.asperbio.com/asper-neurogenetics/leukodystrophy-and-leukoencephalopathy-ngs-panel/list-of-diseases-covered-by-leukodystrophy-and-leukoencephalopathy-ngs-panel/) - List of diseases covered by Leukodystrophy and Leukoencephalopathy NGS panel
- [Bardet-Biedli sündroomiga seotud  geenide sekveneerimine](https://www.asperbio.com/et/asper-nephrology-testid/bardet-biedli-sundroomiga-seotud-geenide-sekveneerimine/) - Bardet-Biedli sündroomiga seotud geenide sekveneerimine Geenid: ALMS1 (v.a. ekson 8), ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, CCDC28B, CEP290, GNAS, IFT27, IFT172, LZTFL1, MKKS, MKS1, PHF6, SDCCAG8, TMEM67, TRIM32, TTC8, WDPCP Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale. Testi valmimisaeg:
- [List of diseases covered by Bardet-Biedl Syndrome NGS panel](https://www.asperbio.com/asper-nephrology/bardet-biedl-syndrome-ngs-panel/list-of-diseases-covered-by-bardet-biedl-syndrome-ngs-panel/) - Bardet-Biedl Syndrome NGS panel
- [Bardet-Biedl Syndrome NGS panel](https://www.asperbio.com/asper-nephrology/bardet-biedl-syndrome-ngs-panel/) - Bardet-Biedl Syndrome testing by NGS panel
- [Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome](https://www.asperbio.com/asper-ophthalmics/oculocutaneous-albinism-ocular-albinism-hermansky-pudlak-syndrome-chediak-higashi-syndrome-genetic-testing-ngs-panel) - Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome testing with next generation sequencing of a multigene panel
- [Palmoplantar Keratoderma NGS panel](https://www.asperbio.com/asper-dermatology/palmoplantar-keratoderma-ngs-panel/) - Palmoplantar Keratoderma genetic testing by NGS panel
- [Palmoplantaarse keratodermiaga seotud geenide sekveneerimine](https://www.asperbio.com/asper-dermatology/palmoplantar-keratoderma-ngs-panel/) - Palmoplantaarse keratodermiaga seotud geenide sekveneerimine
- [Okulokutaanne albinism, okulaarne albinism, Hermansky-Pudlaki sündroom, Chediak-Higashi sündroom](https://www.asperbio.com/asper-ophthalmics/oculocutaneous-albinism-ocular-albinism-hermansky-pudlak-syndrome-chediak-higashi-syndrome-genetic-testing-ngs-panel) - Okulokutaanne albinism, okulaarne albinism, Hermansky-Pudlaki sündroom, Chediak-Higashi sündroom
- [Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome](https://www.asperbio.com/asper-dermatology/oculocutaneous-albinism-ocular-albinism-hermansky-pudlak-syndrome-chediak-higashi-syndrome/) - Okulokutaanse albinismiga, okulaarse albinismiga, Hermansky-Pudlaki sündroomiga, Chediak-Higashi sündroomiga seotud geenide sekveneerimine
- [Okulokutaanse albinismiga, okulaarse albinismiga, Hermansky-Pudlaki sündroomiga, Chediak-Higashi sündroomiga seotud geenide sekveneerimine](https://www.asperbio.com/asper-dermatology/oculocutaneous-albinism-ocular-albinism-hermansky-pudlak-syndrome-chediak-higashi-syndrome/) - Okulokutaanse albinismiga, okulaarse albinismiga, Hermansky-Pudlaki sündroomiga, Chediak-Higashi sündroomiga seotud geenide sekveneerimine
- [Usheri sündroom](https://www.asperbio.com/asper-ophthalmics/usher-syndrome-genetic-testing-ngs-panel) - Usheri sündroom
- [Usher Syndrome](https://www.asperbio.com/asper-ophthalmics/usher-syndrome-genetic-testing-ngs-panel) - Different types of Usher Syndrome testing with next generation sequencing of a multigene panel or targeted regions sequencing
- [Leber Congenital Amaurosis](https://www.asperbio.com/asper-ophthalmics/leber-congenital-amaurosis-lca-genetic-testing-ngs-panel) - Leber Congenital Amaurosis testing with next generation sequencing of a multigene panel or targeted regions sequencing
- [Leberi kaasasündinud amauroos](https://www.asperbio.com/asper-ophthalmics/leber-congenital-amaurosis-lca-genetic-testing-ngs-panel) - Leberi kaasasündinud amauroos
- [Autosoom-dominantne pigmentretiniit](https://www.asperbio.com/asper-ophthalmics/autosomal-dominant-retinitis-pigmentosa-genetic-testing-ngs-panel) - Autosoom-dominantne pigmentretiniit
- [Autosomal Dominant Retinitis Pigmentosa](https://www.asperbio.com/asper-ophthalmics/autosomal-dominant-retinitis-pigmentosa-genetic-testing-ngs-panel) - Autosomal Dominant Retinitis Pigmentosa testing with next generation sequencing of a multigene panel or targeted regions sequencing
- [Autosomal Recessive Retinitis Pigmentosa](https://www.asperbio.com/asper-ophthalmics/autosomal-recessive-retinitis-pigmentosa-genetic-testing-ngs-panel) - Autosomal Recessive Retinitis Pigmentosa testing with next generation sequencing of a multigene panel or targeted regions sequencing
- [Autosoom-retsessiivne pigmentretiniit](https://www.asperbio.com/asper-ophthalmics/autosomal-recessive-retinitis-pigmentosa-genetic-testing-ngs-panel) - Autosoom-retsessiivne pigmentretiniit
- [Neurofibromatoosiga seotud geenide sekveneerimine](https://www.asperbio.com/asper-dermatology/neurofibromatosis-ngs-panel/) - Neurofibromatoosiga seotud geenide sekveneerimine
- [Neurofibromatosis NGS panel](https://www.asperbio.com/asper-dermatology/neurofibromatosis-ngs-panel/) - Neurofibromatosis genetic testing by NGS panel
- [Melanoomiga seotud geenide sekveneerimine ](https://www.asperbio.com/asper-dermatology/melanoma/) - Melanoomiga seotud geenide sekveneerimine
- [Melanoma ](https://www.asperbio.com/asper-dermatology/melanoma/) - Melanoma genetic testing by multigene panel.
- [Bulloosse epidermolüüsiga seotud geenide sekveneerimine](https://www.asperbio.com/asper-dermatology/epidermolysis-bullosa-ngs-panel/) - Bulloosse epidermolüüsiga seotud geenide sekveneerimine
- [Genetic tests](https://www.asperbio.com/genetic-tests/ngs/next-generation-sequencing) - Genetic testing by next generation sequencing
- [Hyperinsulinism NGS panel](https://www.asperbio.com/asper-endocrinology/hyperinsulinism-ngs-panel/) - Hyperinsulinism NGS panel Genes (full coding region): ABCC8, GCK, GLUD1, HADH, HK1, HNF1A, HNF4A, INSR, KCNJ11, PMM2, SLC16A1, UCP2 List of diseases covered by the panel Lab method: TAT: 6-9 weeks Specimen requirements: 2-4 ml of blood with anticoagulant EDTA 1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl The A260/A280 ratio
- [List of diseases covered by Hyperinsulinism NGS panel](https://www.asperbio.com/asper-endocrinology/hyperinsulinism-ngs-panel/list-of-diseases-covered-by-hyperinsulinism-ngs-panel/) - List of diseases covered by Hyperinsulinism NGS panel Gene Condition ABCC8 Diabetes mellitus, noninsulin-dependent; Diabetes mellitus, permanent neonatal; Diabetes mellitus, transient neonatal 2; Hyperinsulinemic hypoglycemia, familial, 1; Hypoglycemia of infancy, leucine-sensitive GCK Diabetes mellitus, noninsulin-dependent, late onset; Diabetes mellitus, permanent neonatal; Hyperinsulinemic hypoglycemia, familial, 3; MODY, type II GLUD1 Hyperinsulinism-hyperammonemia syndrome HADH Hyperinsulinemic hypoglycemia, familial,
- [Hüperinsulinismiga seotud geenide sekveneerimine](https://www.asperbio.com/asper-endocrinology/hyperinsulinism-ngs-panel/) - Hüperinsulinismiga seotud geenide sekveneerimine Geen: ABCC8, GCK, GLUD1, HADH, HK1, HNF1A, HNF4A, INSR, KCNJ11, PMM2, SLC16A1, UCP2 Metoodika: Kodeeriva piirkonna sekveneerimine (NGS) Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale. Testi valmimisaeg: 6-9 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d elueerituna TE, AE
- [Neeruvähiga seotud geenide sekveneerimine](https://www.asperbio.com/asper-oncogenetics/renal-cancer-ngs-panel/) - Neeruvähiga seotud geenide sekveneerimine Geenid: BAP1, CDC73, CDKN1C, DICER1, DIS3L2, EPCAM, FH, FLCN, GPC3, HNF1A, MET, MLH1, MSH2, MSH6, PTEN, REST, SDHB, SDHC, SDHD, SMARCB1, TP53, TSC1, TSC2, VHL, WT1 Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale. Testi valmimisaeg: 6-9 nädalat Nõuded proovi- materjalile:
- [Renal Cancer NGS panel](https://www.asperbio.com/asper-oncogenetics/renal-cancer-ngs-panel/) - Renal Cancer NGS panel Genes (full coding region): BAP1, CDC73, CDKN1C, DICER1, DIS3L2, EPCAM, FH, FLCN, GPC3, HNF1A, MET, MLH1, MSH2, MSH6, PTEN, REST, SDHB, SDHC, SDHD, SMARCB1, TP53, TSC1, TSC2, VHL, WT1 List of diseases covered by the panel Lab method: TAT: 6-9 weeks Specimen requirements: 2-4 ml of blood with anticoagulant EDTA 1
- [List of diseases covered by Renal Cancer NGS panel](https://www.asperbio.com/asper-oncogenetics/renal-cancer-ngs-panel/list-of-diseases-covered-by-renal-cancer-ngs-panel/) - List of diseases covered by Renal Cancer NGS panel Gene Condition BAP1 Tumor predisposition syndrome CDC73 Hyperparathyroidism, familial primary; Hyperparathyroidism-jaw tumor syndrome; Parathyroid carcinoma CDKN1C Beckwith-Wiedemann syndrome; IMAGE syndrome DICER1 Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors; Pleuropulmonary blastoma; Rhabdomyosarcoma, embryonal, 2 DIS3L2 Perlman syndrome EPCAM Colorectal cancer, hereditary nonpolyposis, type 8; Diarrhea
- [List of diseases covered by Prostate Cancer NGS panel](https://www.asperbio.com/asper-oncogenetics/prostate-cancer-ngs-panel/list-of-diseases-covered-by-prostate-cancer-ngs-panel/) - List of diseases covered by Prostate Cancer NGS panel
- [Eesnäärmevähiga seotud geenide sekveneerimine](https://www.asperbio.com/asper-oncogenetics/prostate-cancer-ngs-panel/) - BRCA1, BRCA2, CHEK2, HOXB13, MLH1, MSH2, MSH6, NBN, TP53
- [Prostate Cancer NGS panel](https://www.asperbio.com/asper-oncogenetics/prostate-cancer-ngs-panel/) - NGS-based test covers the entire coding region of 9 genes associated with Prostate Cancer
- [List of diseases covered by Autism Spectrum Disorders NGS panel](https://www.asperbio.com/asper-neurogenetics/autism-spectrum-disorders-ngs-panel/list-of-diseases-covered-by-autism-spectrum-disorders-ngs-panel/) - List of diseases covered by Autism Spectrum Disorders NGS panel
- [Autism Spectrum Disorders NGS panel](https://www.asperbio.com/asper-neurogenetics/autism-spectrum-disorders-ngs-panel/) - Autism Spectrum Disorders testing by sequencing of multigene panel
- [List of diseases covered by Epilepsy NGS panel](https://www.asperbio.com/asper-neurogenetics/epilepsy/list-of-diseases-covered-by-epilepsy-ngs-panel/) - List of diseases covered by epilepsy NGS panel
- [Epilepsy NGS panel](https://www.asperbio.com/asper-neurogenetics/epilepsy/ngs-panel) - Epilepsy testing with next generation sequencing of a multigene panel
- [List of diseases covered by Limb-Girdle Muscular Dystrophy NGS panel](https://www.asperbio.com/asper-neurogenetics/limb-girdle-muscular-dystrophy-ngs-panel/list-of-diseases-covered-by-limb-girdle-muscular-dystrophy-ngs-panel/) - List of diseases covered by Limb-Girdle Muscular Dystrophy NGS panel
- [Limb-Girdle Muscular Dystrophy NGS panel](https://www.asperbio.com/asper-neurogenetics/limb-girdle-muscular-dystrophy-ngs-panel/) - Limb-Girdle Muscular Dystrophy genetic testing by sequencing of the multigene panel
- [List of diseases covered by Melanoma NGS panel](https://www.asperbio.com/asper-dermatology/melanoma/list-of-diseases-covered-by-melanoma-ngs-panel/) - List of diseases covered by Melanoma NGS panel
- [List of diseases covered by Melanoma NGS panel](https://www.asperbio.com/asper-oncogenetics/melanoma-ngs-panel/list-of-diseases-covered-by-melanoma-ngs-panel/) - List of diseases covered by Melanoma NGS panel
- [Melanoomiga seotud geenide sekveneerimine](https://www.asperbio.com/asper-oncogenetics/melanoma-ngs-panel/) - Melanoomiga seotud geenide sekveneerimine
- [Melanoma NGS panel](https://www.asperbio.com/asper-oncogenetics/melanoma-ngs-panel/) - Melanoma testing by sequencing of multigene panel
- [List of diseases covered by Ichthyosis NGS panel](https://www.asperbio.com/asper-dermatology/ichthyosis-ngs-panel/list-of-diseases-covered-by-ichthyosis-ngs-panel/) - List of diseases covered by Ichthyosis NGS panel
- [Ihtüoosiga seotud geenide sekveneerimine](https://www.asperbio.com/asper-dermatology/ichthyosis-ngs-panel/) - Ihtüoosiga seotud geenide sekveneerimine
- [Ichthyosis NGS panel](https://www.asperbio.com/asper-dermatology/ichthyosis-ngs-panel/) - Ichthyosis genetic testing by NGS panel
- [List of non-coding variants covered by Microcephaly NGS panel](https://www.asperbio.com/microcephaly/list-of-non-coding-variants-covered-by-microcephaly-ngs-panel/) - List of non-coding variants covered by Microcephaly NGS panel
- [List of diseases covered by Microcephaly NGS panel](https://www.asperbio.com/microcephaly/list-of-diseases-covered-by-microcephaly-ngs-panel/) - List of diseases covered by Microcephaly NGS panel
- [List of non-coding variants covered by Charcot-Marie-Tooth NGS panel](https://www.asperbio.com/asper-neurogenetics/charcot-marie-tooth-disease/list-of-non-coding-variants-covered-by-charcot-marie-tooth-ngs-panel/) - List of non-coding variants covered by Charcot-Marie-Tooth NGS panel
- [List of non-coding variants covered by Autism Spectrum Disorders NGS panel](https://www.asperbio.com/asper-neurogenetics/autism-spectrum-disorders-ngs-panel/list-of-non-coding-variants-covered-by-autism-spectrum-disorders-ngs-panel/) - List of non-coding variants covered by Autism Spectrum Disorders NGS panel
- [List of non-coding variants covered by Hereditary Ataxia NGS panel](https://www.asperbio.com/asper-neurogenetics/hereditary-ataxia/list-of-non-coding-variants-covered-by-hereditary-ataxia-ngs-panel/) - List of non-coding variants covered by Hereditary Ataxia NGS panel
- [List of non-coding variants covered by  Frontotemporal Dementia NGS panel](https://www.asperbio.com/asper-neurogenetics/frontotemporal-dementia/list-of-non-coding-variants-covered-by-frontotemporal-dementia-ngs-panel/) - List of non-coding variants covered by Frontotemporal Dementia NGS panel
- [List of diseases covered by Severe Combined Immunodeficiency NGS panel](https://www.asperbio.com/asper-hematology/severe-combined-immunodeficiency-ngs-panel/list-of-diseases-covered-by-severe-combined-immunodeficiency-ngs-panel/) - List of diseases covered by Severe Combined Immunodeficiency NGS panel Gene Condition ADA Severe combined immunodeficiency due to ADA deficiency AK2 Reticular dysgenesis CARD11 B-cell expansion with NFKB and T-cell anergy; Immunodeficiency 11A; Immunodeficiency 11B with atopic dermatitis CD247 Immunodeficiency 25 CD40 Immunodeficiency with hyper-IgM, type 3 CD8A CD8 deficiency, familial CD3D Immunodeficiency 19 CD3E
- [Raske kombineeritud immuunpuudulikkusega seotud geenide sekveneerimine](https://www.asperbio.com/asper-hematology/severe-combined-immunodeficiency-ngs-panel/) - Raske kombineeritud immuunpuudulikkusega seotud geenide sekveneerimine Geenid: ADA, AK2, CARD11, CD247, CD40, CD8A, CD3D, CD3E, CD3G, CD40LG, CIITA, CORO1A, DCLRE1C, DOCK8, FOXN1, IKBKB, IL7R, IL2RA, IL2RG, JAK3, LCK, LIG4, MALT1, MTHFD1, NHEJ1, ORAI1, PGM3, PNP, PRKDC, PTPRC, RAC2, RAG1, RAG2, RFX5, RFXANK, RFXAP, RMRP, SLC46A1, STAT5B, STIM1, TBX1, TTC7A, UNC119, ZAP70 Metoodika: Kodeeriva piirkonna sekveneerimine
- [Severe Combined Immunodeficiency NGS panel](https://www.asperbio.com/asper-hematology/severe-combined-immunodeficiency-ngs-panel/) - Severe Combined Immunodeficiency NGS panel Genes (full coding region): ADA, AK2, CARD11, CD247, CD40, CD8A, CD3D, CD3E, CD3G, CD40LG, CIITA, CORO1A, DCLRE1C, DOCK8, FOXN1, IKBKB, IL7R, IL2RA, IL2RG, JAK3, LCK, LIG4, MALT1, MTHFD1, NHEJ1, ORAI1, PGM3, PNP, PRKDC, PTPRC, RAC2, RAG1, RAG2, RFX5, RFXANK, RFXAP, RMRP, SLC46A1, STAT5B, STIM1, TBX1, TTC7A, UNC119, ZAP70 List of
- [List of diseases covered by Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome NGS panel](https://www.asperbio.com/asper-dermatology/oculocutaneous-albinism-ocular-albinism-hermansky-pudlak-syndrome-chediak-higashi-syndrome/list-of-diseases-covered-by-oculocutaneous-albinism-ocular-albinism-hermansky-pudlak-syndrome-chediak-higashi-syndrome-ngs-panel/) - List of diseases covered by Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome NGS panel
- [List of diseases covered by Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome NGS panel](https://www.asperbio.com/asper-ophthalmics/oculocutaneous-albinism-ocular-albinism-hermansky-pudlak-syndrome-chediak-higashi-syndrome/list-of-diseases-covered-by-oculocutaneous-albinism-ocular-albinism-hermansky-pudlak-syndrome-chediak-higashi-syndrome-ngs-panel/) - List of diseases covered by Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome NGS panel
- [List of diseases covered by Hypothyroidism and Thyroid Hormone Resistance NGS panel](https://www.asperbio.com/asper-endocrinology/hypothyroidism-and-thyroid-hormone-resistance-ngs-panel/list-of-diseases-covered-by-hypothyroidism-and-thyroid-hormone-resistance-ngs-panel/) - List of diseases covered by Hypothyroidism and Thyroid Hormone Resistance NGS panel
- [Methylmalonic Aciduria and Homocystinuria NGS panel](https://www.asperbio.com/asper-metabolic-disorders/methylmalonic-aciduria-and-homocystinuria-ngs-panel/) - Methylmalonic aciduria and homocystinuria genetic testing by sequencing of multigene panel.
- [Lüsosomaalne ladestushaigus](https://www.asperbio.com/asper-metabolic-disorders/lysosomal-storage-disease-ngs-panel/) - Lüsosomaalse ladestushaigusega seotud geenide sekveneerimine
- [Lysosomal Storage Disease NGS panel](https://www.asperbio.com/asper-metabolic-disorders/lysosomal-storage-disease-ngs-panel/) - Lysosomal Storage Disease genetic testing by sequencing of multigene panel.
- [Rasvhapete oksüdatsiooni häired](https://www.asperbio.com/asper-metabolic-disorders/fatty-acid-oxidation-disorder-ngs-panel/) - Rasvhapete oksüdatsiooni häiretega seotud geenide sekveneerimine
- [Fatty Acid Oxidation Disorder NGS panel](https://www.asperbio.com/asper-metabolic-disorders/fatty-acid-oxidation-disorder-ngs-panel/) - Fatty Acid Oxidation Disorder by sequencing of multigene panel
- [Hypothyroidism and Thyroid Hormone Resistance NGS panel](https://www.asperbio.com/asper-endocrinology/hypothyroidism-and-thyroid-hormone-resistance-ngs-panel/) - Hypothyroidism and Thyroid Hormone Resistance testing by sequencing of multigene panel
- [Hüpotüreoidismi ja türeoidhormooni resistentsusega seotud geenide sekveneerimine](https://www.asperbio.com/asper-endocrinology/hypothyroidism-and-thyroid-hormone-resistance-ngs-panel/) - Hüpotüreoidismi ja türeoidhormooni resistentsusega seotud geenide sekveneerimine
- [Skeleti düsplaasia](https://www.asperbio.com/asper-dysmorphology/skeletal-dysplasia-ngs-panel/) - ALPL, COL2A1, ESCO2, FGFR1, FGFR2, FGFR3, IL11RA, MSX2, RECQL4, ROR2, SLC26A2, SOX9, TRIP11, TWIST1, WNT5A
- [Skeletal Dysplasia NGS panel](https://www.asperbio.com/asper-dysmorphology/skeletal-dysplasia-ngs-panel/) - NGS-based test covers the entire coding region of 15 genes associated with skeletal dysplasia
- [Kraniosünostoos](https://www.asperbio.com/asper-dysmorphology/craniosynostosis-ngs-panel/) - FGFR1, FGFR2, FGFR3, IL11RA, MSX2, RECQL4, TWIST13
- [Craniosynostosis NGS panel](https://www.asperbio.com/asper-dysmorphology/craniosynostosis-ngs-panel/) - NGS-based test covers the entire coding region of 7 genes associated with craniosynostosis
- [Stickleri sündroom](https://www.asperbio.com/asper-otogenetics/stickler-syndrome/ngs-panel) - Stickleri sündroomi geneetiline testimine
- [Stickler Syndrome NGS panel](https://www.asperbio.com/asper-otogenetics/stickler-syndrome/ngs-panel) - Stickler Syndrome testing with next generation sequencing of a multigene panel
- [Alporti sündroom](https://www.asperbio.com/asper-otogenetics/alport-syndrome/ngs-panel) - Alporti sündroomi geneetiline testimine
- [Alport Syndrome NGS panel](https://www.asperbio.com/asper-otogenetics/alport-syndrome/ngs-panel) - Alport Syndrome testing with next generation sequencing of a multigene panel
- [Pulmonaalhüpertensioon](https://www.asperbio.com/asper-cardiogenetics/pulmonary-arterial-hypertension-ngs-panel/) - ACVRL1, BMPR2, BMPR1B, CAV1, ENG, KCNK3, SMAD9
- [Pulmonary Arterial Hypertension NGS panel](https://www.asperbio.com/asper-cardiogenetics/pulmonary-arterial-hypertension-ngs-panel/) - NGS-based test covers the entire coding region of 10 genes associated with pulmonary arterial hypertension
- [Hüpertroofiline kardiomüopaatia](https://www.asperbio.com/asper-cardiogenetics/hypertrophic-cardiomyopathy/ngs-panel) - Hüpertroofilise kardiomüopaatia geneetiline testimine
- [Hypertrophic Cardiomyopathy NGS panel](https://www.asperbio.com/asper-cardiogenetics/hypertrophic-cardiomyopathy/ngs-panel) - Hypertrophic Cardiomyopathy testing with next generation sequencing of a multigene panel.
- [MUTYH-seoseline polüpoos](https://www.asperbio.com/asper-oncogenetics/mutyh-associated-polyposis-map-genetic-testing) - MUTYH-seoselise polüpoosiga seotud MUTYH geeni sekveneerimine Geenid: MUTYH Metoodika: Kodeeriva piirkonna sekveneerimine (Sanger) Testi valmimisaeg: 2-4 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl DNA saata toatemperatuuril või külmutatuna. A260/A280 suhe peaks olema 1.8-2.0. DNA peab agaroosgeelis pikkusmarkeri juuresolekul olema
- [MUTYH-associated polyposis genetic testing](https://www.asperbio.com/asper-oncogenetics/mutyh-associated-polyposis-map-genetic-testing) - MUTYH-associated polyposis - MAP is an autosomal recessive disorder characterized by a variable number of colorectal adenomas with a high risk of developing colon cancer
- [Koroidereemia](https://www.asperbio.com/asper-ophthalmics/choroideremia-genetic-testing-chm-gene-sequencing) - Koroidereemia
- [Choroideremia](https://www.asperbio.com/asper-ophthalmics/choroideremia-genetic-testing-chm-gene-sequencing) - Choroideremia testing with Sanger sequencing of the CHM gene
- [Aniriidia](https://www.asperbio.com/asper-ophthalmics/aniridia/genetic-testing/pax6-gene-sequencing) - Sangeri sekveneerimisel põhinev analüüs hõlmab PAX6 geeni kodeeriva järjestuse sekveneerimist.
- [Aniridia](https://www.asperbio.com/asper-ophthalmics/aniridia/genetic-testing/pax6-gene-sequencing) - Aniridia genetic testing with sequencing of the entire coding region of the PAX6 gene.
- [Haiguse kandluse määramine](https://www.asperbio.com/et/asper-reprogenetics-testid-haiguse-kandluse-maaramine/) - Haiguse kandluse määramine Geenid: 550 geeni, mis on seotud raske kuluga, retsessiivsete lapseeas avalduvate haigustega Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale. Testi valmimisaeg: 6-9 nädalat Nõuded proovi- materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d elueerituna TE, AE puhvris või
- [Noonani spektri haigused/Rasopaatiad](https://www.asperbio.com/asper-dysmorphology/noonan-syndrome-ngs-panel/) - BRAF, CBL, HRAS, KAT6B, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, SHOC2, SOS1, SPRED1
- [List of non-coding variants covered by  Hereditary Spastic Paraplegia NGS panel](https://www.asperbio.com/asper-neurogenetics/hereditary-spastic-paraplegia/list-of-non-coding-variants-covered-by-hereditary-spastic-paraplegia-ngs-panel/) - List of non-coding variants covered by Hereditary Spastic Paraplegia NGS panel
- [Päriliku spastilise parapleegia paneeli mittekodeerivad geneetilised variandid](https://www.asperbio.com/asper-neurogenetics/hereditary-spastic-paraplegia/list-of-non-coding-variants-covered-by-hereditary-spastic-paraplegia-ngs-panel/) - Päriliku spastilise parapleegia paneeli mittekodeerivad geneetilised variandid
- [List of diseases covered by Sensorineural Hearing loss NGS panel](https://www.asperbio.com/asper-otogenetics/hereditary-hearing-loss-snhl-1-hhl-1/list-of-diseases-covered-by-sensorineural-hearing-loss-ngs-panel/) - List of diseases covered by Sensorineural Hearing loss NGS panel
- [Sensorineuraalne kuulmislangus](https://www.asperbio.com/asper-otogenetics/hereditary-sensorineural-hearing-loss-snhl-genetic-testing-ngs-panel) - Sensorineuraalse kuulmislanguse geneetiline testimine
- [Sensorineural Hearing loss NGS panel](https://www.asperbio.com/asper-otogenetics/hereditary-sensorineural-hearing-loss-snhl-genetic-testing-ngs-panel) - Sensorineural Hearing Loss testing with next generation sequencing of a multigene panel or sequencing of targeted regions
- [Pika QT sündroom](https://www.asperbio.com/asper-cardiogenetics/long-qt-syndrome/ngs-panel) - Pika QT sündroomi geneetiline testimine
- [Long QT Syndrome NGS panel](https://www.asperbio.com/asper-cardiogenetics/long-qt-syndrome/ngs-panel) - Long QT Syndrome testing with next generation sequencing of a multigene panel.
- [Kontratseptiivid + hormoonasendusravi PGx](https://www.asperbio.com/asper-pharmacogenetics/contraceptives-hrt-pgx/) - Geneetilisteks teguriteks, mis soodustavad VTE tekkimist, on faktor V (F5) geeni Leideni mutatsiooni ja protrombiiniehk faktor II (F2) geeni mutatsiooni 20210G>A esinemine.
- [Contraceptives + HRT PGx](https://www.asperbio.com/asper-pharmacogenetics/contraceptives-hrt-pgx/) - Inherited genetic factors predisposing tendency to develop venous thromboembolism are Factor V Leiden mutation in the F5 gene and mutation 20210G>A in the F2 (prothrombin) gene.
- [Asper Pharmacogenetics](https://www.asperbio.com/asper-pharmacogenetics/) - Asper Pharmacogenetics is a collection of genetic tests targeting drug-gene interactions including metabolic response to medications and predisposition to adverse drug reactions.
- [Pahaloomulise hüpertermiaga seotud geenide sekveneerimine](https://www.asperbio.com/asper-pharmacogenetics/malignant-hyperthermia-ngs-panel) - Pahaloomulise hüpertermiaga seotud geenide sekveneerimine Geenid: CACNA1S, RYR1, STAC3 Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale. Testi valmimisaeg: 6-9 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl
- [Malignant Hyperthermia NGS panel](https://www.asperbio.com/asper-pharmacogenetics/malignant-hyperthermia-ngs-panel) - Malignant Hyperthermia NGS panel Genes (full coding region): CACNA1S, RYR1, STAC3 Lab method: TAT: 6-9 weeks Specimen requirements: 2-4 ml of blood with anticoagulant EDTA 1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a
- [Malignant hyperthermia NGS panel](https://www.asperbio.com/asper-neurogenetics/malignant-hyperthermia-ngs-panel/) - Malignant Hyperthermia genetic testing by multigene panel.
- [Aškenazi juutide populatsioonis levinud pärilikud haigused](https://www.asperbio.com/asper-reprogenetics/ashkenazi-jewish-diseases-genetic-testing) - Ashkenazi Jewish diseases testing by next generation sequencing of entire coding region.
- [Ashkenazi Jewish diseases](https://www.asperbio.com/asper-reprogenetics/ashkenazi-jewish-diseases-genetic-testing) - Ashkenazi Jewish diseases testing by next generation sequencing of entire coding region.
- [Alfa talasseemia](https://www.asperbio.com/asper-hematology/alpha-thalassemia/) - HBA1, HBA2
- [Alpha Thalassemia](https://www.asperbio.com/asper-hematology/alpha-thalassemia/) - Alpha-Thalassemia test analyses 7 deletions in HBA1, HBA2 genes associated with alpha-thalassemia
- [Antidepressandid PGx](https://www.asperbio.com/asper-pharmacogenetics/antidepressants-pgx/) - Testi tulemused sisaldavad informatsiooni CYP2D6 ja CYP2C19 genotüüpide ja ravimi metabolismiga seotud fenotüüpide kohta. Samuti soovitusi SSRI ja TTA dooside optimeerimiseks vastavalt CPIC ravijuhistele.
- [Statiin-seoselise müopaatiaga seotud mutatsioonanalüüs](https://www.asperbio.com/asper-pharmacogenetics/statin-induced-myopathy-targeted-mutation-analysis/) - Statiin-seoselise müopaatiaga seotud mutatsioonanalüüs
- [Aminoglükosiididest tingitud kurtuse mutatsioonanalüüs ](https://www.asperbio.com/asper-pharmacogenetics/aminoglycoside-induced-deafness/) - Aminoglükosiididest tingitud kurtuse mutatsioonanalüüs Geen: MT-RNR1 Marker: m.1555A>G Metoodika: Sanger sekveneerimine Testi valmimisaeg: 2-4 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 200 ng DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl DNA saata toatemperatuuril või külmutatuna. A260/A280 suhe peaks olema 1.8-2.0. DNA peab agaroosgeelis olema detekteeritav ühe tervikliku bändina.
- [Antidepressants PGx](https://www.asperbio.com/asper-pharmacogenetics/antidepressants-pgx/) - The test provides an interpretation of CYP2D6 and CYP2C19 genotyping results and drug metabolism phenotypes. Dosing recommendations for SSRIs and TCAs based on CPIC Guidelines are included in the test report.
- [Statin-Induced Myopathy targeted mutation analysis](https://www.asperbio.com/asper-pharmacogenetics/statin-induced-myopathy-targeted-mutation-analysis/) - Statin-Induced Myopathy - targeted mutation analysis
- [Aminoglycoside-Induced Deafness](https://www.asperbio.com/asper-pharmacogenetics/aminoglycoside-induced-deafness/) - Predisposition to aminoglycoside, caused by aminoglycoside exposure is known to be associated with pathogenic variants in the MT-RNR1 gene.
- [Silmahaigused 294 geeni sekveneerimisega](https://www.asperbio.com/et/asper-ophthalmics-testid/silmahaigused-294-geeni-sekveneerimisega/) - NGS panel covers the entire coding region of 294 genes associated with different eye diseases
- [Eye Diseases NGS panel of 294 genes](https://www.asperbio.com/asper-ophthalmics/eye-diseases-ngs-panel-of-294-genes/) - NGS panel covers the entire coding region of 294 genes associated with different eye diseases
- [Ealine maakuli degeneratsioon](https://www.asperbio.com/asper-ophthalmics/age-related-macular-degeneration-amd/genetic-testing/ngs-panel) - Ealise maakuli degeneratsiooniga seotud geenide teise põlvkonna sekveneerimine ja mutatsioonianalüüs.
- [List of diseases covered by Hereditary Ataxia NGS panel](https://www.asperbio.com/asper-neurogenetics/hereditary-ataxia/list-of-diseases-covered-by-hereditary-ataxia-ngs-panel/) - List of diseases covered by Hereditary Ataxia NGS panel
- [Mikrotsefaalia paneeli  mittekodeerivad geneetilised variandid](https://www.asperbio.com/microcephaly/list-of-non-coding-variants-covered-by-microcephaly-ngs-panel/) - Mikrotsefaalia paneeli mittekodeerivad geneetilised variandid
- [Mikrotsefaalia paneeli  mittekodeerivad geneetilised variandid](https://www.asperbio.com/asper-dysmorphology/microcephaly-ngs-panel/list-of-non-coding-variants-covered-by-microcephaly-ngs-panel/) - Mikrotsefaalia paneeli mittekodeerivad geneetilised variandid
- [Tuberoosse skleroosi paneeli mittekodeerivad geneetilised variandid](https://www.asperbio.com/asper-dermatology/tuberous-sclerosis/list-of-non-coding-variants-covered-by-tuberous-sclerosis-ngs-panel/) - Tuberoosse skleroosi paneeli mittekodeerivad geneetilised variandid
- [Frontotemporaalse dementsuse paneeli mittekodeerivad geneetilised variandid](https://www.asperbio.com/asper-neurogenetics/frontotemporal-dementia/list-of-non-coding-variants-covered-by-frontotemporal-dementia-ngs-panel/) - Frontotemporaalse dementsuse paneeli mittekodeerivad geneetilised variandid
- [Whole Exome Sequencing](https://www.asperbio.com/asper-reprogenetics/exome-sequencing-reprogenetics) - Exome sequencing includes the sequencing of the protein coding regions and their flanking intronic regions in ~20,000 genes of the human genome.
- [Primary Ciliary Dyskinesia NGS panel](https://www.asperbio.com/asper-reprogenetics/primary-ciliary-dyskinesia-ngs-panel/) - Primary Ciliary Dyskinesia testing by next generation sequencing of multigene panel
- [Male Factor Infertility](https://www.asperbio.com/asper-reprogenetics/male-factor-infertility/genetic-testing) - Simultaneous testing of a number of known genetic causes of male infertility
- [Female Infertility NGS panel](https://www.asperbio.com/asper-reprogenetics/female-infertility-ngs-panel/) - Female Infertility testing by multigene panel
- [Cystic Fibrosis](https://www.asperbio.com/asper-reprogenetics/cystic-fibrosis-cf-genetic-testing) - Cystic Fibrosis testing with targeted mutation analysis of 289 mutations in CFTR gene or targeted regions sequencing of CFTR gene
- [Carrier Testing NGS panel](https://www.asperbio.com/asper-reprogenetics/carrier-testing) - Genetic carrier testing allows determination of carrier status in family with identified mutation of an autosomal recessive or x-linked disorder
- [Whole Exome Sequencing](https://www.asperbio.com/asper-otogenetics/exome-sequencing-otogenetics) - Exome sequencing includes the sequencing of the protein coding regions and their flanking intronic regions in ~20,000 genes of the human genome.
- [Zellweger Spectrum Disorders NGS panel](https://www.asperbio.com/asper-otogenetics/zellweger-spectrum-disorders/ngs-panel) - Zellweger Spectrum Disorders testing with next generation sequencing of a multigene panel
- [Waardenburg Syndrome NGS panel](https://www.asperbio.com/asper-otogenetics/waardenburg-syndrome/ngs-panel) - Waardenburg Syndrome testing with next generation sequencing of a multigene panel
- [Usher Syndrome NGS panel](https://www.asperbio.com/asper-otogenetics/usher-syndrome/ngs-panel) - Different types of Usher Syndrome testing with next generation sequencing of a multigene panel or targeted mutation analysis of 810 mutations in a number of genes
- [Treacher Collins Syndrome NGS panel](https://www.asperbio.com/asper-otogenetics/treacher-collins-syndrome/ngs-panel) - Treacher Collins Syndrome testing with next generation sequencing of a multigene panel
- [Pendred Syndrome](https://www.asperbio.com/asper-otogenetics/pendred-syndrome/) - Pendred Syndrome is tested by sequencing of the SLC26A4 gene
- [Branchiootorenal Syndrome NGS panel](https://www.asperbio.com/asper-otogenetics/branchiootorenal-syndrome/ngs-panel) - Branchiootorenal Syndrome testing with next generation sequencing of a multigene panel
- [Whole Exome Sequencing](https://www.asperbio.com/asper-ophthalmics/exome-sequencing-ophthalmics) - Exome sequencing includes the sequencing of the protein coding regions and their flanking intronic regions in ~20,000 genes of the human genome.
- [X-Linked Retinitis Pigmentosa](https://www.asperbio.com/asper-ophthalmics/x-linked-retinitis-pigmentosa-genetic-testing-ngs-panel) - X Linked Retinitis Pigmentosa testing with next generation sequencing of a multigene panel or targeted regions sequencing
- [Vitreoretinopathy NGS panel](https://www.asperbio.com/asper-ophthalmics/vitreoretinopathy-ngs-panel/) - Vitreoretinopathy genetic testing by NGS panel
- [Stargardt Disease](https://www.asperbio.com/asper-ophthalmics/stargardt-disease-cone-rod-dystrophy-genetic-testing-ngs-panel) - Stargardt Disease testing with next generation sequencing of a multigene panel or sequencing of the ABCA4 gene
- [Senior-Loken Syndrome](https://www.asperbio.com/asper-ophthalmics/senior-loken-syndrome/) - Senior-Loken Syndrome genetic testing by NGS panel
- [Retinoblastoma](https://www.asperbio.com/asper-ophthalmics/retinoblastoma/genetic-testing/rb1-gene-sequencing) - Retinoblastoma testing with sequencing of the RB1 gene
- [Optic Atrophy](https://www.asperbio.com/asper-ophthalmics/optic-atrophy-genetic-testing-ngs-panel) - Autosomal Dominant Optic Atrophy testing with next generation sequencing of a multigene panel or targeted regions sequencing in the OPA1 gene
- [Leber Hereditary Optic Neuropathy](https://www.asperbio.com/asper-ophthalmics/leber-hereditary-optic-neuropathy/lhon-genetic-testing) - Leber Hereditary Optic Neuropathy testing with targeted mutation analysis
- [Glaucoma](https://www.asperbio.com/asper-ophthalmics/glaucoma/genetic-testing-ngs-panel) - Glaucoma testing with next generation sequencing of a multigene panel
- [List of diseases covered by the NGS panel of 294 genes](https://www.asperbio.com/asper-ophthalmics/eye-diseases-ngs-panel-of-294-genes/list-of-diseases-covered-by-the-ngs-panel-of-294-genes/) - List of eye diseases covered by the NGS panel of 294 genes
- [Vitelliform Macular Dystrophy](https://www.asperbio.com/asper-ophthalmics/vitelliform-macular-dystrophy-genetic-testing-ngs-panel) - Vitelliform Macular Dystrophy testing with next generation sequencing of a multigene panel or targeted regions sequencing
- [Papillorenal Syndrome](https://www.asperbio.com/asper-ophthalmics/papillorenal-syndrome/genetic-testing/pax2-gene-sequencing) - Sequencing covers the entire coding region of the PAX2 gene.
- [Ectopia Lentis NGS panel](https://www.asperbio.com/asper-ophthalmics/ectopia-lentis-ngs-panel/) - Ectopia Lentis genetic testing by NGS panel
- [Corneal Dystrophy](https://www.asperbio.com/asper-ophthalmics/corneal-dystrophy-genetic-testing-ngs-panel) - Corneal Dystrophy testing with next generation sequencing of a multigene panel
- [Congenital Stationary Night Blindness](https://www.asperbio.com/asper-ophthalmics/congenital-stationary-night-blindness-genetic-testing-ngs-panel) - Congenital Stationary Night Blindness testing with next generation sequencing of a multigene panel
- [Congenital Fibrosis of Extraocular Muscles NGS panel](https://www.asperbio.com/asper-ophthalmics/congenital-fibrosis-of-extraocular-muscles-ngs-panel/) - Congenital Fibrosis of Extraocular Muscles genetic testing by NGS panel
- [Cone-Rod Dystrophy](https://www.asperbio.com/asper-ophthalmics/cone-rod-dystrophy-genetic-testing-ngs-panel) - Cone-rod Dystrophy testing with next generation sequencing of a multigene panel
- [Cataract NGS panel](https://www.asperbio.com/asper-ophthalmics/cataract-ngs-panel/) - NGS-based test covers the entire coding region of 44 genes associated with cataract.
- [Bardet Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson-Forssman-Lehmann Syndrome, Alström Syndrome, Albright Hereditary Osteodystrophy](https://www.asperbio.com/asper-ophthalmics/bardet-biedl-syndrome-mckusick-kaufman-syndrome-borjeson-forssman-lehmann-syndrome-alstrom-syndrome-albright-hereditary-osteodystrophy-genetic-testing-ngs-panel) - Bardet Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson-Forssman-Lehmann Syndrome, Alström Syndrome, Albright Hereditary Osteodystrophy genetic testing
- [Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis NGS panel](https://www.asperbio.com/asper-ophthalmics/anophthalmiamicrophthalmiacolobomaanterior-segment-dysgenesis-ngs-panel/) - NGS-based test covers the entire coding region of 35 genes associated with anophthalmia/microphthalmia/coloboma/anterior segment dysgenesis
- [Age-Related Macular Degeneration – AMD](https://www.asperbio.com/asper-ophthalmics/age-related-macular-degeneration-amd/genetic-testing/ngs-panel) - Age-related macular degeneration genetic testing with NGS panel and targeted mutation analysis
- [Achromatopsia NGS panel](https://www.asperbio.com/asper-ophthalmics/achromatopsia-ngs-panel/genetic-testing) - NGS-based test covers the entire coding region of 6 genes associated with achromatopsia
- [Whole Exome Sequencing](https://www.asperbio.com/asper-oncogenetics/exome-sequencing-oncogenetics) - Exome sequencing includes the sequencing of the protein coding regions and their flanking intronic regions in ~20,000 genes of the human genome.
- [Von Hippel-Lindau Disease](https://www.asperbio.com/asper-oncogenetics/von-hippel-lindau-disease/) - Von Hippel-Lindau Disease testing by sequencing of the VHL gene.
- [Thyroid Cancer NGS panel](https://www.asperbio.com/asper-oncogenetics/thyroid-cancer-ngs-panel/) - NGS-based test covers the entire coding region of 10 genes associated with thyroid cancer
- [Nijmegen Breakage Syndrome](https://www.asperbio.com/asper-oncogenetics/nijmegen-breakage-syndrome/) - Nijmegen Breakage Syndrome testing by Sanger sequencing of the NBN gene and targeted mutation analysis.
- [Lynch Syndrome/Hereditary Non-Polyposis Colon Cancer - HNPCC](https://www.asperbio.com/asper-oncogenetics/lynch-syndrome-genetic-testing-hereditary-non-polyposis-colon-cancer-hnpcc) - Lynch syndrome/Hereditary Non-Polyposis Colon Cancer - HNPCC genetic testing by NGS panel and Sanger sequencing
- [Fanconi Anemia](https://www.asperbio.com/asper-oncogenetics/fanconi-anemia/) - NGS-based test covers the entire coding region of 17 genes associated with Fanconi anemia
- [Familial Adenomatous Polyposis](https://www.asperbio.com/asper-oncogenetics/familial-adenomatous-polyposis-fap-genetic-testing) - Familial Adenomatous Polyposis genetic testing by APC gene sequencing
- [Whole Exome Sequencing](https://www.asperbio.com/asper-neurogenetics/exome-sequencing-neurogenetics) - Exome sequencing includes the sequencing of the protein coding regions and their flanking intronic regions in ~20,000 genes of the human genome.
- [Tuberous Sclerosis NGS panel](https://www.asperbio.com/asper-neurogenetics/tuberous-sclerosis-ngs-panel/) - Tuberous Sclerosis testing by sequencing of TSC1, TSC2 genes
- [Smith-Lemli-Opitz Syndrome](https://www.asperbio.com/asper-neurogenetics/smith-lemli-opitz-syndrome/) - Smith-Lemli-Opitz Syndrome testing with targeted mutation analysis of 121 mutations in DHCR7 gene
- [Paroxysmal Dyskinesia NGS panel](https://www.asperbio.com/asper-neurogenetics/paroxysmal-dyskinesia-ngs-panel/) - Paroxysmal Dyskinesia genetic testing by NGS panel.
- [Neurodegeneration with Brain Iron Accumulation NGS panel](https://www.asperbio.com/asper-neurogenetics/neurodegeneration-with-brain-iron-accumulation-ngs-panel/) - NGS-based test covers the entire coding region of 10 genes related to neurodegeneration with brain iron accumulation
- [Menkes Disease](https://www.asperbio.com/asper-neurogenetics/menkes-disease/) - Menkes disease testing by Sanger sequencing of the ATP7A gene
- [Frontotemporal Dementia NGS panel](https://www.asperbio.com/asper-neurogenetics/frontotemporal-dementia/ngs-panel) - Frontotemporal dementia testing with next generation sequencing of a multigene panel
- [Familial Hemiplegic Migraine NGS panel](https://www.asperbio.com/asper-neurogenetics/familial-hemiplegic-migraine-ngs-panel/) - Familial Hemiplegic Migraine genetic testing by NGS panel
- [List of diseases covered by Craniosynostosis NGS panel](https://www.asperbio.com/craniosynostosis/list-of-diseases-covered-by-craniosynostosis-ngs-panel/) - List of diseases covered by Craniosynostosis NGS panel
- [Congenital Myasthenic Syndrome NGS panel](https://www.asperbio.com/asper-neurogenetics/congenital-myasthenic-syndrome-ngs-panel/) - Congenital Myasthenic Syndrome genetic testing by NGS panel
- [Congenital Muscular Dystrophy NGS panel](https://www.asperbio.com/asper-neurogenetics/congenital-muscular-dystrophy-ngs-panel/) - Congenital Muscular Dystrophy testing by NGS panel
- [Brunner Syndrome](https://www.asperbio.com/asper-neurogenetics/brunner-syndrome/) - Brunner Syndrome testing by NGS
- [Amyotrophic Lateral Sclerosis NGS panel](https://www.asperbio.com/asper-neurogenetics/amyotrophic-lateral-sclerosis-ngs-panel/) - NGS-based test covers the entire coding region of 22 genes related to amyotrophic lateral sclerosis
- [Whole Exome Sequencing](https://www.asperbio.com/asper-nephrology/whole-exome-sequencing/) - Whole Exome Sequencing
- [Senior-Loken Syndrome NGS panel](https://www.asperbio.com/asper-nephrology/senior-loken-syndrome-ngs-panel/) - Senior-Loken Syndrome testing by NGS panel
- [Primary Ciliary Dyskinesia NGS panel](https://www.asperbio.com/asper-nephrology/primary-ciliary-dyskinesia-ngs-panel/) - Primary Ciliary Dyskinesia testing by NGS panel
- [Polycystic Kidney Disease NGS panel](https://www.asperbio.com/asper-nephrology/polycystic-kidney-disease-ngs-panel/) - Polycystic Kidney Disease testing by NGS panel
- [Nephrotic Syndrome NGS panel](https://www.asperbio.com/asper-nephrology/nephrotic-syndrome-ngs-panel/) - Nephrotic Syndrome testing by NGS panel
- [Nephronophthisis NGS panel](https://www.asperbio.com/asper-nephrology/nephronophthisis-ngs-panel/) - Nephronophthisis testing by NGS panel
- [Hypomagnesemia NGS panel](https://www.asperbio.com/asper-nephrology/hypomagnesemia-ngs-panel/) - Hypomagnesemia genetic testing by NGS panel.
- [Hemolytic Uremic Syndrome NGS panel](https://www.asperbio.com/asper-nephrology/hemolytic-uremic-syndrome-ngs-panel/) - Hemolytic Uremic Syndrome testing by NGS panel
- [Ciliopathy NGS panel](https://www.asperbio.com/asper-nephrology/ciliopathy-ngs-panel/) - Ciliopathy testing by NGS panel
- [Branchiootorenal Syndrome NGS panel](https://www.asperbio.com/asper-nephrology/branchiootorenal-syndrome-ngs-panel/) - Branchiootorenal Syndrome testing by NGS panel
- [Bartter Syndrome NGS panel](https://www.asperbio.com/asper-nephrology/bartter-syndrome-ngs-panel/) - Bartter Syndrome testing by NGS panel
- [Whole Exome Sequencing](https://www.asperbio.com/asper-metabolic-disorders/whole-exome-sequencing/) - Trio exome sequencing of family members, usually affected child with parents is highly recommended for faster and more precise identifying of disease-causing mutation and determining the pattern of inheritance.
- [Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency](https://www.asperbio.com/asper-metabolic-disorders/very-long-chain-acyl-coa-dehydrogenase-vlcad-deficiency/genetic-testing) - Very long chain acyl-coA dehydrogenase (VLCAD) deficiency genetic testing by sequencing of the ACADVL gene.
- [Urea Cycle Disorder NGS panel](https://www.asperbio.com/asper-metabolic-disorders/urea-cycle-disorder-ngs-panel/) - Urea cycle disorder genetic testing by sequencing of the multigene panel.
- [Smith Lemli Opitz Syndrome](https://www.asperbio.com/asper-metabolic-disorders/smith-lemli-opitz-syndrome/) - Smith Lemli Opitz syndrome genetic testing by sequencing of the DHCR7 gene.
- [Mucopolysaccharidosis NGS panel](https://www.asperbio.com/asper-metabolic-disorders/mucopolysaccharidosis-ngs-panel/) - Mucopolysaccharidosis genetic testing by NGS panel
- [Hemochromatosis NGS panel](https://www.asperbio.com/asper-metabolic-disorders/hemochromatosis-ngs-panel/) - Hemochromatosis genetic testing by sequencing of the multigene panel
- [Glycogen Storage Disease NGS panel](https://www.asperbio.com/asper-metabolic-disorders/glycogen-storage-disease-ngs-panel/) - Glycogen Storage Disease genetic testing by sequencing of multigene panel
- [Congenital Disorders of Glycolysation NGS panel](https://www.asperbio.com/asper-metabolic-disorders/congenital-disorders-of-glycolysation-ngs-panel/) - Congenital Disorders of Glycolysation testing by NGS panel
- [Citrin Deficiency](https://www.asperbio.com/asper-metabolic-disorders/citrin-deficiency/) - Citrin deficiency genetic testing by sequencing of the SLC25A13 gene.
- [Whole Exome sequencing](https://www.asperbio.com/asper-hematology/exome-sequencing/) - Exome sequencing includes the sequencing of the coding regions and their flanking intronic regions of the genome.
- [Thrombocytopenia NGS panel](https://www.asperbio.com/asper-hematology/thrombocytopenia/ngs-panel) - NGS-based test covers the entire coding region of 14 genes associated with thrombocytopenia
- [Hereditary Sideroblastic Anemia NGS panel](https://www.asperbio.com/asper-hematology/hereditary-sideroblastic-anemia-ngs-panel/) - Hereditary Sideroblastic Anemia testing by next generation sequencing of the multigene panel
- [Fanconi Anemia](https://www.asperbio.com/asper-hematology/fanconi-anemia/) - NGS-based test covers the entire coding region of 17 genes associated with Fanconi anemia
- [Coagulation Disorders NGS panel](https://www.asperbio.com/asper-hematology/coagulation-disorders-ngs-panel/) - Coagulation Disorders genetic testing by NGS panel.
- [Beta Thalassemia](https://www.asperbio.com/asper-hematology/beta-thalassemia/) - Beta thalassemia testing covers sequencing of the entire coding region of the HBB gene
- [Tangier Disease](https://www.asperbio.com/asper-cardiogenetics/tangier-disease/) - Tangier Disease genetic testing by sequencing of the ABCA1 gene
- [Familial Lipoprotein Lipase Deficiency](https://www.asperbio.com/asper-cardiogenetics/familial-lipoprotein-lipase-deficiency/) - Familial Lipoprotein Lipase Deficiency testing by sequencing of the LPL gene.
- [Familial Hypocalciuric Hypercalcemia](https://www.asperbio.com/asper-endocrinology/familial-hypocalciuric-hypercalcemia/) - Familial Hypocalciuric Hypercalcemia testing by sequencing of CASR gene
- [Whole Exome Sequencing](https://www.asperbio.com/asper-endocrinology/whole-exome-sequencing/) - Whole Exome Sequencing Lab method: TAT: 10 weeks Specimen requirements: 2-4 ml of blood with anticoagulant EDTA 4 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a
- [Thyroid Dyshormonogenesis NGS panel](https://www.asperbio.com/asper-endocrinology/thyroid-dyshormonogenesis-ngs-panel/) - Thyroid Dyshormonogenesis testing by sequencing of multigene panel
- [Maturity Onset Diabetes of the Young (MODY) NGS panel](https://www.asperbio.com/asper-endocrinology/maturity-onset-diabetes-of-the-young-mody-ngs-panel/) - Maturity Onset Diabetes of the Young (MODY) testing by sequencing of multigene panel
- [Kallmann Syndrome NGS panel](https://www.asperbio.com/asper-endocrinology/kallmann-syndrome-ngs-panel/) - Kallmann Syndrome testing by NGS panel
- [Congenital Adrenal Hyperplasia](https://www.asperbio.com/asper-endocrinology/congenital-adrenal-hyperplasia/cah) - Sequencing and del/dul analysis of the CYP21A2 gene
- [Combined Pituitary Hormone Deficiency](https://www.asperbio.com/asper-endocrinology/combined-pituitary-hormone-deficiency/ngs-panel) - Combined Pituitary Hormone Deficiency testing by sequencing of multigene panel
- [Androgen Insensitivity Syndrome](https://www.asperbio.com/asper-endocrinology/androgen-insensitivity-syndrome/) - Androgen Insensitivity Syndrome testing by sequencing of AR gene.
- [Whole Exome Sequencing](https://www.asperbio.com/asper-dysmorphology/exome-sequencing/) - Exome sequencing includes the sequencing of the coding regions and their flanking intronic regions of the genome.
- [Smith-Lemli-Opitz Syndrome](https://www.asperbio.com/asper-dysmorphology/smith-lemli-opitz-syndrome/) - Smith-Lemli-Opitz Syndrome Genes: DHCR7 Lab method: TAT: 2-4 weeks Specimen requirements: 2-4 ml of blood with anticoagulant EDTA 1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with
- [Skeletal Ciliopathies NGS panel](https://www.asperbio.com/asper-dysmorphology/skeletal-ciliopathies-ngs-panel/) - NGS-based test covers the entire coding region of 15 genes associated with skeletal ciliopathies
- [Osteogenesis Imperfecta NGS panel](https://www.asperbio.com/asper-dysmorphology/osteogenesis-imperfecta-ngs-panel/) - NGS-based test covers the entire coding region of 20 genes associated with osteogenesis imperfecta.
- [Noonan Spectrum Disorders/Rasopathies NGS panel](https://www.asperbio.com/asper-dysmorphology/noonan-syndrome-ngs-panel/) - NGS-based test covers the entire coding region of 25 genes associated with Noonan Spectrum Disorders/Rasopathies
- [List of non-coding variants covered by Microcephaly NGS panel](https://www.asperbio.com/asper-dysmorphology/microcephaly-ngs-panel/list-of-non-coding-variants-covered-by-microcephaly-ngs-panel/) - List of non-coding variants covered by Microcephaly NGS panel
- [Frazer Syndrome NGS panel](https://www.asperbio.com/asper-dysmorphology/frazer-syndrome-ngs-panel/) - Frazer Syndrome testing by multigene panel
- [Cornelia de Lange Syndrome NGS panel](https://www.asperbio.com/asper-dysmorphology/cornelia-de-lange-syndrome-ngs-panel/) - Cornelia de Lange Syndrome testing by NGS panel
- [List of non-coding variants covered by Tuberous Sclerosis NGS panel](https://www.asperbio.com/asper-neurogenetics/tuberous-sclerosis-ngs-panel/list-of-non-coding-variants-covered-by-tuberous-sclerosis-ngs-panel/) - List of non-coding variants covered by Tuberous Sclerosis NGS panel
- [List of non-coding variants covered by Tuberous Sclerosis NGS panel](https://www.asperbio.com/asper-dermatology/tuberous-sclerosis/list-of-non-coding-variants-covered-by-tuberous-sclerosis-ngs-panel/) - List of non-coding variants covered by Tuberous Sclerosis NGS panel
- [Whole Exome Sequencing](https://www.asperbio.com/asper-dermatology/whole-exome-sequencing/) - Whole Exome Sequencing
- [Waardenburg Syndrome](https://www.asperbio.com/asper-dermatology/waardenburg-syndrome/) - Waardenburg Syndrome genetic testing by multigene panel
- [Hypotrichosis NGS panel](https://www.asperbio.com/asper-dermatology/hypotrichosis-ngs-panel/) - Hypotrichosis genetic testing by NGS panel
- [Hermansky-Pudlak Syndrome NGS panel](https://www.asperbio.com/asper-dermatology/hermansky-pudlak-syndrome-ngs-panel/) - Hermansky-Pudlak Syndrome genetic testing by sequencing of multigene panel.
- [Epidermolysis Bullosa NGS panel](https://www.asperbio.com/asper-dermatology/epidermolysis-bullosa-ngs-panel/) - Epidermolysis Bullosa genetic testing by multigene panel
- [Ehlers-Danlos Syndrome NGS panel](https://www.asperbio.com/asper-dermatology/ehlers-danlos-syndrome-ngs-panel/) - Ehlers-Danlos Syndrome genetic testing by NGS panel
- [Cutis Laxa NGS panel](https://www.asperbio.com/asper-dermatology/cutis-laxa-ngs-panel/) - Cutis Laxa genetic testing by multigene panel.
- [Whole Exome Sequencing](https://www.asperbio.com/asper-cardiogenetics/exome-sequencing-cardiogenetics) - Exome sequencing includes the sequencing of the protein coding regions and their flanking intronic regions in ~20,000 genes of the human genome.
- [Short QT Syndrome NGS panel](https://www.asperbio.com/asper-cardiogenetics/short-qt-syndrome-ngs-panel/) - Short QT Syndrome genetic testing by sequencing of multigene panel.
- [Noonan Spectrum Disorders/Rasopathies NGS panel](https://www.asperbio.com/asper-cardiogenetics/noonan-syndrome/ngs-panel) - Noonan Syndrome testing with next generation sequencing of a multigene panel or targeted mutation analysis of 107 mutations in a number of genes
- [Hypertriglyceridemia NGS panel](https://www.asperbio.com/asper-cardiogenetics/hypertriglyceridemia-ngs-panel/) - Hypertriglyceridemia genetic testing by sequencing of the multigene panel
- [Hereditary Hemorrhagic Telangiectasia NGS panel](https://www.asperbio.com/asper-cardiogenetics/hereditary-hemorrhagic-telangiectasia-ngs-panel/) - Hereditary Hemorrhagic Telangiectasia testing by NGS panel
- [Ehlers-Danlos Syndrome NGS panel](https://www.asperbio.com/asper-cardiogenetics/ehlers-danlos-syndrome-ngs-panel/) - Ehlers-Danlos Syndrome genetic testing by sequencing of the multigene panel.
- [Catecholaminergic Polymorphic Ventricular Tachycardia](https://www.asperbio.com/asper-cardiogenetics/catecholaminergic-polymorphic-ventricular-tachycardia/) - Catecholaminergic polymorphic ventricular tachycardia genetic testing by sequencing of the multigene panel
- [List of diseases covered by Brain malformations NGS panel](https://www.asperbio.com/asper-dysmorphology/brain-malformations-ngs-panel/list-of-diseases-covered-by-brain-malformations-ngs-panel/) - List of diseases covered by Brain malformations NGS panel
- [Leberi pärilik nägemisnärvi neuropaatia](https://www.asperbio.com/et/asper-ophthalmics-testid/leberi-parilik-nägemisnärvi-neuropaatia/) - Leberi pärilik optiline neuropaatia
- [Hüpotrihhoosiga seotud geenide sekveneerimine](https://www.asperbio.com/asper-dermatology/hypotrichosis-ngs-panel/) - Hüpotrihhoosiga seotud geenide sekveneerimine
- [Hermansky-Pudlaki sündroomiga seotud geenide sekveneerimine](https://www.asperbio.com/asper-dermatology/hermansky-pudlak-syndrome-ngs-panel/) - Hermansky-Pudlaki sündroomiga seotud geenide sekveneerimine
- [Päriliku ataksia paneeli mittekodeerivad geneetilised variandid](https://www.asperbio.com/et/asper-neurogenetics-testid/pärilik-ataksia-2/päriliku-ataksia-paneeli-mittekodeerivad-geneetilised-variandid/) - Päriliku ataksia paneeli mittekodeerivad geneetilised variandid
- [List of diseases covered by Waardenburg Syndrome NGS panel](https://www.asperbio.com/asper-dermatology/waardenburg-syndrome/list-of-diseases-covered-by-waardenburg-syndrome-ngs-panel/) - List of diseases covered by Waardenburg Syndrome NGS panel
- [Waardenburgi sündroomiga seotud geenide sekveneerimine](https://www.asperbio.com/asper-dermatology/waardenburg-syndrome/) - Waardenburgi sündroomiga seotud geenide sekveneerimine
- [List of diseases covered by Neurofibromatosis NGS panel](https://www.asperbio.com/asper-dermatology/neurofibromatosis-ngs-panel/list-of-diseases-covered-by-neurofibromatosis-ngs-panel/) - List of diseases covered by Neurofibromatosis NGS panel
- [List of diseases covered by Hypotrichosis NGS panel](https://www.asperbio.com/asper-dermatology/hypotrichosis-ngs-panel/list-of-diseases-covered-by-hypotrichosis-ngs-panel/) - List of diseases covered by Hypotrichosis NGS panel
- [List of diseases covered by Hermansky-Pudlak Syndrome NGS panel](https://www.asperbio.com/asper-dermatology/hermansky-pudlak-syndrome-ngs-panel/list-of-diseases-covered-by-hermansky-pudlak-syndrome-ngs-panel/) - List of diseases covered by Hermansky-Pudlak Syndrome NGS panel
- [List of diseases covered by Epidermolysis Bullosa NGS panel](https://www.asperbio.com/asper-dermatology/epidermolysis-bullosa-ngs-panel/list-of-diseases-covered-by-epidermolysis-bullosa-ngs-panel/) - List of diseases covered by Epidermolysis Bullosa NGS panel
- [List of diseases covered by Ehlers-Danlos Syndrome NGS panel](https://www.asperbio.com/asper-dermatology/ehlers-danlos-syndrome-ngs-panel/list-of-diseases-covered-by-ehlers-danlos-syndrome-ngs-panel/) - List of diseases covered by Ehlers-Danlos Syndrome NGS panel
- [Ehlers-Danlos sündroomiga seotud geenide sekveneerimine](https://www.asperbio.com/asper-dermatology/ehlers-danlos-syndrome-ngs-panel/) - Ehlers-Danlos sündroomiga seotud geenide sekveneerimine
- [List of diseases covered by Ehlers-Danlos Syndrome NGS panel](https://www.asperbio.com/asper-cardiogenetics/ehlers-danlos-syndrome-ngs-panel/list-of-diseases-covered-by-ehlers-danlos-syndrome-ngs-panel/) - List of diseases covered by Ehlers-Danlos Syndrome NGS panel
- [Ehlers-Danlos sündroomiga seotud geenide sekveneerimine](https://www.asperbio.com/asper-cardiogenetics/ehlers-danlos-syndrome-ngs-panel/) - Ehlers-Danlos sündroomiga seotud geenide sekveneerimine
- [List of diseases covered by Skeletal Dysplasia NGS panel](https://www.asperbio.com/asper-dysmorphology/skeletal-dysplasia-ngs-panel/list-of-diseases-covered-by-skeletal-dysplasia-ngs-panel/) - List of diseases covered by Skeletal Dysplasia NGS panel
- [List of diseases covered by Osteogenesis Imperfecta NGS panel](https://www.asperbio.com/asper-dysmorphology/osteogenesis-imperfecta-ngs-panel/list-of-diseases-covered-by-osteogenesis-imperfecta-ngs-panel/) - List of diseases covered by Osteogenesis Imperfecta NGS panel
- [Ebatäiusliku luutekkega seotud geenide sekveneerimine](https://www.asperbio.com/asper-dysmorphology/osteogenesis-imperfecta-ngs-panel/) - Ebatäiusliku luutekkega (Osteogenesis Imperfecta) seotud geenide sekveneerimine
- [List of diseases covered by Noonan Spectrum Disorders/Rasopathies NGS panel](https://www.asperbio.com/asper-dysmorphology/noonan-syndrome-ngs-panel/list-of-diseases-covered-by-noonan-syndrome-ngs-panel/) - List of diseases covered by Noonan Syndrome NGS panel
- [List of diseases covered by Frazer Syndrome NGS panel](https://www.asperbio.com/asper-dysmorphology/frazer-syndrome-ngs-panel/list-of-diseases-covered-by-frazer-syndrome-ngs-panel/) - List of diseases covered by Frazer Syndrome NGS panel
- [Frazeri sündroomiga seotud geenide sekveneerimine](https://www.asperbio.com/asper-dysmorphology/frazer-syndrome-ngs-panel/) - Frazeri sündroomiga seotud geenide sekveneerimine
- [List of diseases covered by Craniosynostosis NGS panel](https://www.asperbio.com/asper-dysmorphology/craniosynostosis-ngs-panel/list-of-diseases-covered-by-craniosynostosis-ngs-panel/) - List of diseases covered by Craniosynostosis NGS panel
- [List of diseases covered by Noonan Spectrum Disorders/Rasopathies NGS panel](https://www.asperbio.com/asper-cardiogenetics/noonan-syndrome/list-of-diseases-covered-by-noonan-syndrome-ngs-panel/) - List of diseases covered by Noonan Syndrome NGS panel
- [List of diseases covered by Waardenburg Syndrome NGS panel](https://www.asperbio.com/asper-otogenetics/waardenburg-syndrome/list-of-diseases-covered-by-waardenburg-syndrome-ngs-panel/) - List of diseases covered by Waardenburg Syndrome NGS panel
- [Waardenburgi sündroom](https://www.asperbio.com/asper-otogenetics/waardenburg-syndrome/ngs-panel) - Waardenburgi sündroomi geneetiline testimine
- [List of diseases covered by Autosomal Recessive Retinitis Pigmentosa NGS panel](https://www.asperbio.com/asper-ophthalmics/autosomal-recessive-retinitis-pigmentosa-ar-rp/list-of-diseases-covered-by-autosomal-recessive-retinitis-pigmentosa-ngs-panel/) - List of diseases covered by Autosomal Recessive Retinitis Pigmentosa NGS panel
- [List of diseases covered by Cancer Predisposition NGS panel](https://www.asperbio.com/asper-oncogenetics/cancer-predisposition/list-of-diseases-covered-by-cancer-predisposition-ngs-panel/) - List of diseases covered by Cancer Predisposition NGS panel
- [Kaasasündinud lihasdüstroofia paneeli mittekodeerivad geneetilised variandid](https://www.asperbio.com/et/asper-neurogenetics-testid/kaasasündinud-lihasdustroofiaga-seotud-geenide-sekveneerimine/kaasasündinud-lihasdustroofia-paneeli-mittekodeerivad-geneetilised-variandid/) - Kaasasündinud lihasdüstroofia paneeli mittekodeerivad geneetilised variandid
- [Jäsemevöötme lihasdüstroofia paneeli mittekodeerivad geneetilised variandid](https://www.asperbio.com/asper-neurogenetics/limb-girdle-muscular-dystrophy-ngs-panel/list-of-non-coding-variants-covered-by-limb-girdle-muscular-dystrophy-ngs-panel/) - Jäsemevöötme lihasdüstroofia paneeli mittekodeerivad geneetilised variandid
- [Cornelia de Lange sündroomi paneeli mittekodeerivad geneetilised variandid](https://www.asperbio.com/cornelia-de-lange-syndrome/list-of-non-coding-variants-covered-by-cornelia-de-lange-syndrome-ngs-panel/) - Cornelia de Lange sündroomi paneeli mittekodeerivad geneetilised variandid
- [List of non-coding variants covered by Congenital Muscular Dystrophy NGS panel](https://www.asperbio.com/asper-neurogenetics/congenital-muscular-dystrophy-ngs-panel/list-of-non-coding-variants-covered-by-congenital-muscular-dystrophy-ngs-panel/) - List of non-coding variants covered by Congenital Muscular Dystrophy NGS panel
- [List of diseases covered by Congenital Muscular Dystrophy NGS panel](https://www.asperbio.com/asper-neurogenetics/congenital-muscular-dystrophy-ngs-panel/list-of-diseases-covered-by-congenital-muscular-dystrophy-ngs-panel/) - List of diseases covered by Congenital Muscular Dystrophy NGS panel
- [List of non-coding variants covered by Limb-Girdle Muscular Dystrophy NGS panel](https://www.asperbio.com/asper-neurogenetics/limb-girdle-muscular-dystrophy-ngs-panel/list-of-non-coding-variants-covered-by-limb-girdle-muscular-dystrophy-ngs-panel/) - List of non-coding variants covered by Limb-Girdle Muscular Dystrophy NGS panel
- [Cornelia de Lange sündroomiga seotud geenide sekveneerimine ](https://www.asperbio.com/asper-dysmorphology/cornelia-de-lange-syndrome-ngs-panel/) - Cornelia de Lange sündroomiga seotud geenide sekveneerimine 
- [Cornelia de Lange sündroomi paneeli mittekodeerivad geneetilised variandid](https://www.asperbio.com/asper-dysmorphology/cornelia-de-lange-syndrome-ngs-panel/list-of-non-coding-variants-covered-by-cornelia-de-lange-syndrome-ngs-panel/) - Cornelia de Lange sündroomi paneeli mittekodeerivad geneetilised variandid
- [List of non-coding variants covered by Cornelia de Lange Syndrome NGS panel](https://www.asperbio.com/asper-dysmorphology/cornelia-de-lange-syndrome-ngs-panel/list-of-non-coding-variants-covered-by-cornelia-de-lange-syndrome-ngs-panel/) - List of non-coding variants covered by Cornelia de Lange Syndrome NGS panel
- [List of diseases covered by Cornelia de Lange Syndrome NGS panel](https://www.asperbio.com/asper-dysmorphology/cornelia-de-lange-syndrome-ngs-panel/list-of-diseases-covered-by-cornelia-de-lange-syndrome-ngs-panel/) - List of diseases covered by Cornelia de Lange Syndrome NGS panel
- [List of non-coding variants covered by Cornelia de Lange Syndrome NGS panel](https://www.asperbio.com/cornelia-de-lange-syndrome/list-of-non-coding-variants-covered-by-cornelia-de-lange-syndrome-ngs-panel/) - List of non-coding variants covered by Cornelia de Lange Syndrome NGS panel
- [List of diseases covered by Cutis Laxa NGS panel](https://www.asperbio.com/asper-dermatology/cutis-laxa-ngs-panel/list-of-diseases-covered-by-cutis-laxa-ngs-panel/) - List of diseases covered by Cutis Laxa NGS panel
- [Nahalõtvusega seotud geenide sekveneerimine](https://www.asperbio.com/asper-dermatology/cutis-laxa-ngs-panel/) - Nahalõtvusega seotud geenide sekveneerimine
- [Beeta talasseemia](https://www.asperbio.com/asper-hematology/beta-thalassemia/) - HBB
- [Aminoglükosiididest tingitud kurtus](https://www.asperbio.com/asper-otogenetics/aminoglycoside-induced-deafness/) - Aminoglükosiididest tingitud kurtuse mutatsioonanalüüs
- [Pendredi sündroom](https://www.asperbio.com/asper-otogenetics/pendred-syndrome/) - Pendredi sündroomiga seotud SLC26A4 geeni sekveneerimine
- [List of diseases covered by Dilated Cardiomyopathy NGS panel](https://www.asperbio.com/asper-cardiogenetics/dilated-cardiomyopathy-ngs-panel/list-of-diseases-covered-by-dilated-cardiomyopathy-ngs-panel/) - List of diseases covered by Dilated Cardiomyopathy NGS panel
- [List of non-coding variants covered by Dystonia NGS panel](https://www.asperbio.com/asper-neurogenetics/dystonia/list-of-non-coding-variants-covered-by-dystonia-ngs-panel/) - List of non-coding variants covered by Dystonia NGS panel
- [Mehepoolse viljatusega seotud geenide sekveneerimine](https://www.asperbio.com/et/asper-reprogenetics-testid-2/mehepoolne-viljatus/) - Mehepoolse viljatusega seotud geenide sekveneerimine
- [Tangieri haigus](https://www.asperbio.com/asper-cardiogenetics/tangier-disease/) - Tangieri haigusega seotud ABCA1 geeni sekveneerimine
- [Lühikese QT sündroom](https://www.asperbio.com/asper-cardiogenetics/short-qt-syndrome-ngs-panel/) - Lühikese QT sündroomiga seotud geenide sekveneerimine
- [Letsitiin-kolesterool-atsüültransferaasi vaegus](https://www.asperbio.com/asper-cardiogenetics/lecithin-cholesterol-acyltransferase-deficiency/) - Letsitiin-kolesterool-atsüültransferaasi vaegusega seotud LCAT geeni sekveneerimine
- [Lecithin Cholesterol Acyltransferase Deficiency](https://www.asperbio.com/asper-cardiogenetics/lecithin-cholesterol-acyltransferase-deficiency/) - Lecithin Cholesterol Acyltransferase Deficiency genetic testing by sequencing of the LCAT gene
- [Hüpertriglütserideemia](https://www.asperbio.com/asper-cardiogenetics/hypertriglyceridemia-ngs-panel/) - Hüpertriglütserideemiaga seotud geenide sekveneerimine
- [Düstooniate paneeli mittekodeerivad geneetilised variandid](https://www.asperbio.com/asper-neurogenetics/dystonia/list-of-non-coding-variants-covered-by-dystonia-ngs-panel/) - Düstoonia paneeli mittekodeerivad geneetilised variandid
- [Charcot-Marie-Toothi haiguse paneeli mittekodeerivad geneetilised variandid](https://www.asperbio.com/asper-neurogenetics/charcot-marie-tooth-disease/list-of-non-coding-variants-covered-by-charcot-marie-tooth-ngs-panel/) - Charcot-Marie-Toothi haiguse paneeli mittekodeerivad geneetilised variandid
- [List of diseases covered by Dystonia NGS panel](https://www.asperbio.com/asper-neurogenetics/dystonia/list-of-diseases-covered-by-dystonia-ngs-panel/) - List of diseases covered by dystonia NGS panel
- [List of diseases covered by Cataract NGS panel](https://www.asperbio.com/asper-ophthalmics/cataract-ngs-panel/list-of-diseases-covered-by-cataract-ngs-panel/) - List of diseases covered by Cataract NGS panel
- [Katarakt](https://www.asperbio.com/asper-ophthalmics/cataract-ngs-panel/) - AGK, BCOR, BFSP1, BFSP2, CHMP4B, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, EPHA2, EYA1, FTL, FYCO1, GALK1, GCNT2, GJA1, GJA3, GJA8, HSF4, LIM2, LSS, MAF, MIP, NHS, P3H2, PAX6, PITX3, PXDN, SIPA1L3, SIL1, SIX6, SLC16A12, TDRD7, UNC45B, VIM, VSX2
- [Hüperlipoproteineemia,  tüüp V](https://www.asperbio.com/asper-cardiogenetics/hyperlipoproteinemia-type-5/) - Tüüp V hüperlipoproteineemiaga seotud APOA5 geeni sekveneerimine
- [Hyperlipoproteinemia, type 5](https://www.asperbio.com/asper-cardiogenetics/hyperlipoproteinemia-type-5/) - Hyperlipoproteinemia, type 5 genetic testing by sequencing of the APOA5 gene
- [Hüperlipoproteineemia,  tüüp III](https://www.asperbio.com/asper-cardiogenetics/hyperlipoproteinemia-type-3/) - Tüüp III hüperlipoproteineemiaga seotud mutatsioonanalüüs
- [Hyperlipoproteinemia, type 3](https://www.asperbio.com/asper-cardiogenetics/hyperlipoproteinemia-type-3/) - Hyperlipoproteinemia, type 3 targeted mutation analysis
- [Päriliku hemorraagilise teleangiektaasiaga seotud geenide sekveneerimine](https://www.asperbio.com/asper-cardiogenetics/hereditary-hemorrhagic-telangiectasia-ngs-panel/) - Päriliku hemorraagilise teleangiektaasiaga seotud geenide sekveneerimine
- [Naisepoolse viljatusega seotud geenide sekveneerimine](https://www.asperbio.com/asper-reprogenetics/female-infertility-ngs-panel/) - Naisepoolse viljatusega seotud geenide sekveneerimine
- [List of diseases covered by Male Factor Infertility NGS panel](https://www.asperbio.com/asper-reprogenetics/male-factor-infertility/list-of-diseases-covered-by-male-factor-infertility-ngs-panel/) - List of diseases covered by Male Factor Infertility NGS panel
- [List of diseases covered by Female Infertility NGS panel](https://www.asperbio.com/asper-reprogenetics/female-infertility-ngs-panel/list-of-diseases-covered-by-female-infertility-ngs-panel/) - List of diseases covered by Female Infertility NGS panel
- [Kongenitaalse okulaarse fibroosiga seotud geenide sekveneerimine](https://www.asperbio.com/asper-ophthalmics/congenital-fibrosis-of-extraocular-muscles-ngs-panel/) - Kongenitaalse okulaarse fibroosiga seotud geenide sekveneerimine
- [Kaasasündinud adrenogenitaalne hüperplaasia](https://www.asperbio.com/asper-endocrinology/congenital-adrenal-hyperplasia/cah) - Kaasasündinud adrenogenitaalse hüperplaasiaga seotud CYP21A2 geeni sekveneerimine Geen: CYP21A2 Metoodika: Kodeeriva piirkonna sekveneerimine Testi valmimisaeg: 2-4 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl DNA saata toatemperatuuril või külmutatuna. A260/A280 suhe peaks olema 1.8-2.0. DNA peab agaroosgeelis pikkusmarkeri juuresolekul
- [Mukopolüsahharidoos](https://www.asperbio.com/asper-metabolic-disorders/mucopolysaccharidosis-ngs-panel/) - Mukopolüsahharidoosiga seotud geenide sekveneerimine Geen: ARSB, GALNS, GLB1, GNS, GUSB, HGSNAT, HYAL1, IDS, IDUA, NAGLU, SGSH Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale. Testi valmimisaeg: 6-9 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d elueerituna TE, AE
- [List of diseases covered by Mucopolysaccharidosis NGS panel](https://www.asperbio.com/asper-metabolic-disorders/mucopolysaccharidosis-ngs-panel/list-of-diseases-covered-by-mucopolysaccharidosis-ngs-panel/) - List of diseases covered by Mucopolysaccharidosis NGS panel
- [Perekondlik lipoproteiini lipaasi vaegus](https://www.asperbio.com/asper-cardiogenetics/familial-lipoprotein-lipase-deficiency/) - Perekondlik lipoproteiini lipaasi vaegusega seotud LPL geeni sekveneerimine
- [Katehhoolaminergiline polümorfne ventrikulaarne tahhükardia](https://www.asperbio.com/asper-cardiogenetics/catecholaminergic-polymorphic-ventricular-tachycardia/) - Katehhoolaminergilise polümorfse ventrikulaarse tahhükardiaga seotud geenide sekveneerimine
- [Hüpomagneseemiaga seotud geenide sekveneerimine](https://www.asperbio.com/asper-nephrology/hypomagnesemia-ngs-panel/) - Hüpomagneseemiaga seotud geenide sekveneerimine
- [List of diseases covered by Hypomagnesemia NGS panel](https://www.asperbio.com/asper-nephrology/hypomagnesemia-ngs-panel/list-of-diseases-covered-by-hypomagnesemia-ngs-panel/) - List of diseases covered by Hypomagnesemia NGS panel
- [List of diseases covered by Familial Hemiplegic Migraine NGS panel](https://www.asperbio.com/asper-neurogenetics/familial-hemiplegic-migraine-ngs-panel/list-of-diseases-covered-by-familial-hemiplegic-migraine-ngs-panel/) - List of diseases covered by Familial Hemiplegic Migraine NGS panel
- [List of diseases covered by Familial Thoracic Aortic Aneurysm and Dissection and Related Syndromes NGS panel](https://www.asperbio.com/asper-cardiogenetics/marfan-syndrome-and-related-disorders/list-of-diseases-covered-by-familial-thoracic-aortic-aneurysm-and-dissection-and-related-syndromes-ngs-panel/) - List of diseases covered by Familial Thoracic Aortic Aneurysm and Dissection and Related Syndromes NGS panel
- [Epilepsia paneeli mittekodeerivad geneetilised variandid](https://www.asperbio.com/asper-neurogenetics/epilepsy/list-of-non-coding-variants-covered-by-epilepsy-ngs-panel/) - Epilepsia paneeli mittekodeerivad geneetilised variandid
- [List of non-coding variants covered by Epilepsy NGS panel](https://www.asperbio.com/asper-neurogenetics/epilepsy/list-of-non-coding-variants-covered-by-epilepsy-ngs-panel/) - List of non-coding variants covered by Epilepsy NGS panel
- [Autismi spektri häirete paneeli mittekodeerivad geneetilised variandid](https://www.asperbio.com/asper-neurogenetics/autism-spectrum-disorders-ngs-panel/list-of-non-coding-variants-covered-by-autism-spectrum-disorders-ngs-panel/) - Autismi spektri häirete paneeli mittekodeerivad geneetilised variandid
- [Tsüstiline fibroos](https://www.asperbio.com/asper-reprogenetics/cystic-fibrosis-cf-genetic-testing) - Tsüstilise fibroosiga seotud CFTR geeni sekveneerimine Geenid: CFTR Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Test hõlmab CFTRdele2,3, CFTRdele21 ja 1949del84 deletsioonide määramist. Teisi suuri deletsioone/duplikatsioone CFTR geenis testiga ei analüüsita. Testi valmimisaeg: 2-4 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250
- [Apolipoprotein C-II Deficiency](https://www.asperbio.com/asper-cardiogenetics/apolipoprotein-c-ii-deficiency/) - Apolipoprotein C-II Deficiency testing by sequencing of the APOC2 gene
- [Apolipoproteiin C2 puudulikkus](https://www.asperbio.com/asper-cardiogenetics/apolipoprotein-c-ii-deficiency/) - Apolipoproteiin C2 puudulikkusega seotud APOC2 geeni sekveneerimine
- [List of diseases covered by Paroxysmal Dyskinesia NGS panel](https://www.asperbio.com/asper-neurogenetics/paroxysmal-dyskinesia-ngs-panel/list-of-diseases-covered-by-paroxysmal-dyskinesia-ngs-panel/) - List of diseases covered by Paroxysmal Dyskinesia NGS panel
- [List of diseases covered by Usher Syndrome NGS panel](https://www.asperbio.com/asper-otogenetics/usher-syndrome-NGS-panel/list-of-diseases-covered-by-usher-syndrome-ngs-panel/) - List of diseases covered by Usher Syndrome NGS panel
- [List of diseases covered by Usher Syndrome NGS panel](https://www.asperbio.com/asper-ophthalmics/usher-syndrome/list-of-diseases-covered-by-usher-syndrome-ngs-panel/) - List of diseases covered by Usher Syndrome NGS panel
- [X-Linked Retinoschisis](https://www.asperbio.com/asper-ophthalmics/x-linked-retinoschisis-genetic-testing-RS1-gene-sequencing) - X-Linked Retinoschisis testing by Sanger sequencing of the RS1 gene.
- [Norrie Disease](https://www.asperbio.com/asper-ophthalmics/norrie-disease/genetic-testing/NDP-gene-sequencing) - Norrie Disease genetic testing with NDP gene sequencing.
- [Jervell and Lange-Nielson Syndrome](https://www.asperbio.com/asper-otogenetics/jervell-and-lange-nielson-syndrome/) - Jervell and Lange-Nielson Syndrome is tested by sequencing of KCNE1 and KCNQ1 genes
- [Aminoglycoside-Induced Deafness](https://www.asperbio.com/asper-otogenetics/aminoglycoside-induced-deafness/) - Aminoglycoside-induced deafness testing with targeted mutation analysis in the MT-RNR1 gene
- [Maternal Cell Contamination](https://www.asperbio.com/asper-reprogenetics/maternal-cell-contamination/) - Maternal cell contamination testing by fragment analysis
- [Fragile X Syndrome](https://www.asperbio.com/asper-reprogenetics/fragile-x-syndrome/genetic-testing) - Repeat Expansion/Fragment Length Analysis of FMR1 gene
- [Microsatellite instability testing](https://www.asperbio.com/asper-oncogenetics/microsatellite-instability-msi-testing) - Microsatellite instability is the mutational signature found in colorectal cancers that evolve as a result of inactivation of the DNA mismatch repair system.
- [Congenital Myopathy and Distal Myopathy NGS panel](https://www.asperbio.com/asper-neurogenetics/congenital-myopathy-and-distal-myopathy-ngs-panel/) - Congenital Myopathy and Distal Myopathy testing by next generation sequencing of multigene panel
- [List of diseases covered by Polycystic Kidney Disease NGS panel](https://www.asperbio.com/asper-nephrology/polycystic-kidney-disease-ngs-panel/list-of-diseases-covered-by-polycystic-kidney-disease-ngs-panel/) - List of diseases covered by Polycystic Kidney Disease NGS panel
- [List of diseases covered by Nephrotic Syndrome NGS panel](https://www.asperbio.com/asper-nephrology/nephrotic-syndrome-ngs-panel/list-of-diseases-covered-by-nephrotic-syndrome-ngs-panel/) - List of diseases covered by Nephrotic Syndrome NGS panel
- [List of diseases covered by Methylmalonic Aciduria and Homocystinuria NGS panel](https://www.asperbio.com/asper-metabolic-disorders/methylmalonic-aciduria-and-homocystinuria-ngs-panel/list-of-diseases-covered-by-methylmalonic-aciduria-and-homocystinuria-ngs-panel/) - List of diseases covered by Methylmalonic Aciduria and Homocystinuria NGS panel
- [Optiline atroofia](https://www.asperbio.com/et/asper-ophthalmics-testid/nägemisnärvi-atroofia/) - Optilise atroofiaga seotud geenide sekveneerimine
- [Statin-Induced Myopathy](https://www.asperbio.com/asper-cardiogenetics/statin-induced-myopathy/) - Risk assessment for developing statin-induced myopathy by targeted mutation analysis
- [Glükosüülimise kaasasündinud defektidega seotud geenide sekveneerimine](https://www.asperbio.com/asper-metabolic-disorders/congenital-disorders-of-glycolysation-ngs-panel/) - Glükosüülimise kaasasündinud defektidega seotud geenide sekveneerimine
- [List of diseases covered by Congenital Disorders of Glycolysation NGS panel](https://www.asperbio.com/asper-metabolic-disorders/congenital-disorders-of-glycolysation-ngs-panel/list-of-diseases-covered-by-congenital-disorders-of-glycolysation-ngs-panel/) - List of diseases covered by Congenital Disorders of Glycolysation NGS panel
- [Kallmanni sündroomiga seotud geenide sekveneerimine](https://www.asperbio.com/asper-endocrinology/kallmann-syndrome-ngs-panel/) - Kallmanni sündroomiga seotud geenide sekveneerimine
- [List of diseases covered by Kallmann Syndrome NGS panel](https://www.asperbio.com/asper-endocrinology/kallmann-syndrome-ngs-panel/list-of-diseases-covered-by-kallmann-syndrome-ngs-panel/) - List of diseases covered by Kallmann Syndrome NGS panel
- [List of diseases covered by Vitreoretinopathy NGS panel](https://www.asperbio.com/asper-ophthalmics/vitreoretinopathy-ngs-panel/list-of-diseases-covered-by-vitreoretinopathy-ngs-panel/) - List of diseases covered by Vitreoretinopathy NGS panel
- [Vitreoretinopaatia](https://www.asperbio.com/asper-ophthalmics/vitreoretinopathy-ngs-panel/) - Vitreoretinopaatiaga seotud geenide sekveneerimine
- [Eksoomi sekveneerimine](https://www.asperbio.com/asper-dermatology/whole-exome-sequencing/) - Eksoomi sekveneerimine
- [Eksoomi sekveneerimine](https://www.asperbio.com/asper-metabolic-disorders/whole-exome-sequencing/) - Eksoomi sekveneerimine Geenid: Kogu eksoom Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale. Testi valmimisaeg: 10 nädalat Nõuded proovi- materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 4 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl A260/A280 suhe peaks
- [Ülipika ahelaga acyl-CoA dehüdrogenaasi puudulikkus (VLCAD)](https://www.asperbio.com/asper-metabolic-disorders/very-long-chain-acyl-coa-dehydrogenase-vlcad-deficiency/genetic-testing) - Ülipika ahelaga acyl-CoA dehüdrogenaasi puudulikkus (VLCAD) seotud ACADVL geeni sekveneerimine.
- [Hemokromatoos](https://www.asperbio.com/asper-metabolic-disorders/hemochromatosis-ngs-panel/) - Hemokromatoosiga seotud geenide sekveneerimine
- [Glükogeeni salvestustõbi](https://www.asperbio.com/asper-metabolic-disorders/glycogen-storage-disease-ngs-panel/) - Glükogeeni salvestustõvega seotud geenide sekveneerimine
- [Eksoomi sekveneerimine](https://www.asperbio.com/asper-endocrinology/whole-exome-sequencing/) - Eksoomi sekveneerimine
- [MODY diabeediga seotud geenide sekveneerimine](https://www.asperbio.com/asper-endocrinology/maturity-onset-diabetes-of-the-young-mody-ngs-panel/) - MODY diabeediga seotud geenide sekveneerimine
- [Kombineeritud hüpofüüsihormoonide puudulikkusega seotud geenide sekveneerimine](https://www.asperbio.com/asper-endocrinology/combined-pituitary-hormone-deficiency/ngs-panel) - Kombineeritud hüpofüüsihormoonide puudulikkusega seotud geenide sekveneerimine
- [Kilpnäärme düshormogeneesiga seotud geenide sekveneerimine](https://www.asperbio.com/asper-endocrinology/thyroid-dyshormonogenesis-ngs-panel/) - Kilpnäärme düshormogeneesiga seotud geenide sekveneerimine
- [Eksoomi sekveneerimine](https://www.asperbio.com/asper-dysmorphology/exome-sequencing/) - Eksoomi sekveneerimine Geenid: Kogu eksoom Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale. Testi valmimisaeg: 10 nädalat Nõuded proovi- materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 4 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl A260/A280 suhe peaks
- [Skeleti düsplaasiatega seotud tsiliopaatiad](https://www.asperbio.com/asper-dysmorphology/skeletal-ciliopathies-ngs-panel/) - Skeleti düsplaasiatega seotud tsiliopaatiad
- [Eksoomi sekveneerimine](https://www.asperbio.com/asper-hematology/exome-sequencing/) - Eksoomi sekveneerimine Geenid: Kogu eksoom Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale. Testi valmimisaeg: 10 nädalat Nõuded proovi- materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 4 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl A260/A280 suhe peaks
- [Trombotsütopeenia](https://www.asperbio.com/asper-hematology/thrombocytopenia/ngs-panel) - Trombotsütopeenia NGS paneel
- [Pärilik sideroblastiline aneemia](https://www.asperbio.com/asper-hematology/hereditary-sideroblastic-anemia-ngs-panel/) - Päriliku sideroblastilise aneemiaga seotud geenide sekveneerimine
- [Koagulatsiooni häiretega seotud geenide sekveneerimine ](https://www.asperbio.com/asper-hematology/coagulation-disorders-ngs-panel/) - Koagulatsiooni häiretega seotud geenide sekveneerimine 
- [Fanconi aneemia](https://www.asperbio.com/asper-hematology/fanconi-anemia/) - BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, RAD51C, SLX4, XRCC2
- [Eksoomi sekveneerimine oto](https://www.asperbio.com/et/asper-otogenetics-testid/eksoomi-sekveneerimine-oto/) - Eksoomi sekveneerimine
- [Usheri sündroom](https://www.asperbio.com/asper-otogenetics/usher-syndrome/ngs-panel) - Usheri sündroomi geneetiline testimine
- [Treacher-Collinsi sündroom](https://www.asperbio.com/asper-otogenetics/treacher-collins-syndrome/ngs-panel) - Treacher-Collinsi sündroomi geneetiline testimine
- [Zellwegeri spektri haigused](https://www.asperbio.com/asper-otogenetics/zellweger-spectrum-disorders/ngs-panel) - Zellweger Spectrum Disorders testing with next generation sequencing of a multigene panel
- [Branchio-oto-renaalne sündroom](https://www.asperbio.com/asper-otogenetics/branchiootorenal-syndrome/ngs-panel) - Branchio-oto-renaalse sündroomi geneetiline testimine
- [Eksoomi sekveneerimine card](https://www.asperbio.com/asper-cardiogenetics/exome-sequencing-cardiogenetics) - Eksoomi sekveneerimine Geenid: Kogu eksoom Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale. Testi valmimisaeg: 10 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 4 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl DNA saata toatemperatuuril või
- [Eksoomi sekveneerimine onco](https://www.asperbio.com/asper-biotech/NGS-service-exome-sequencing-DNA+tests) - Eksoomi sekveneerimine Geenid: Kogu eksoom Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale. Testi valmimisaeg: 10 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 4 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl DNA saata toatemperatuuril või
- [Lynchi sündroom](https://www.asperbio.com/asper-oncogenetics/lynch-syndrome-genetic-testing-hereditary-non-polyposis-colon-cancer-hnpcc) - Lynchi sündroomi geneetiline testimine
- [Kilpnäärmevähk](https://www.asperbio.com/asper-oncogenetics/thyroid-cancer-ngs-panel/) - APC, CDC73, DICER1, MEN1, PRKAR1A, PTEN, SDHB, SDHD, RET, TP53
- [Fanconi aneemia](https://www.asperbio.com/asper-oncogenetics/fanconi-anemia/) - BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2, RAD51C, SLX4, XRCC2
- [Eksoomi sekveneerimine repro](https://www.asperbio.com/asper-reprogenetics/exome-sequencing-reprogenetics) - Eksoomi sekveneerimine Geenid: Kogu eksoom Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale. Testi valmimisaeg: 10 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 4 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl DNA saata toatemperatuuril või
- [Primaarse tsiliaarse düskineesiaga seotud geenide sekveneerimine](https://www.asperbio.com/asper-reprogenetics/primary-ciliary-dyskinesia-ngs-panel/) - Primaarse tsiliaarse düskineesiaga seotud geenide sekveneerimine
- [Eksoomi sekveneerimine oph](https://www.asperbio.com/asper-ophthalmics/exome-sequencing-ophthalmics) - Eksoomi sekveneerimine Geenid: Kogu eksoom Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale. Testi valmimisaeg: 10 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 4 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl DNA saata toatemperatuuril või
- [X-liiteline pigmentretiniit](https://www.asperbio.com/asper-ophthalmics/x-linked-retinitis-pigmentosa-genetic-testing-ngs-panel) - X-liiteline pigmentretiniit
- [Vitelliformne maakuli düstroofia](https://www.asperbio.com/asper-ophthalmics/vitelliform-macular-dystrophy-genetic-testing-ngs-panel) - Vitelliformne maakuli düstroofia
- [Stargardti tõbi](https://www.asperbio.com/asper-ophthalmics/stargardt-disease-cone-rod-dystrophy-genetic-testing-ngs-panel) - Stargardti tõbi
- [Silma väärarendid](https://www.asperbio.com/asper-ophthalmics/anophthalmiamicrophthalmiacolobomaanterior-segment-dysgenesis-ngs-panel/) - ABCB6, ALDH1A3, ASPH, BCOR, B3GLCT, BMP4, CHD7, COL4A1, CYP1B1, EYA1, FOXC1, FOXE3, GDF3, GDF6, HCCS, HESX1, HMGB3, LTBP2, MAB21L2, MFRP, OTX2, PAX6, PITX2, PRSS56, RARB, RAX, SIX6, SLC38A8, SMOC1, SOX2, STRA6, TENM3, VAX1, VSX1, VSX2
- [Senior-Loken sündroom](https://www.asperbio.com/asper-ophthalmics/senior-loken-syndrome/) - Senior-Loken sündroomiga seotud geenide sekveneerimine
- [Läätse väärasetsus](https://www.asperbio.com/asper-ophthalmics/ectopia-lentis-ngs-panel/) - Läätse väärasetsusega seotud geenide sekveneerimine
- [Kornea düstroofia](https://www.asperbio.com/asper-ophthalmics/corneal-dystrophy-genetic-testing-ngs-panel) - Kornea düstroofia
- [Kolvikeste-kepikeste düstroofia](https://www.asperbio.com/asper-ophthalmics/cone-rod-dystrophy-genetic-testing-ngs-panel) - Kolvikeste-kepikeste düstroofia
- [Kanapimedus](https://www.asperbio.com/asper-ophthalmics/congenital-stationary-night-blindness-genetic-testing-ngs-panel) - Kanapimedus
- [Glaukoom](https://www.asperbio.com/asper-ophthalmics/glaucoma/genetic-testing-ngs-panel) - Glaukoomiga seotud geenide sekveneerimine Geenid: ACVR1, ASB10, BEST1, CANT1, COL18A1, CYP1B1, FOXC1, LMX1B, LOXL1, LTBP2, MYOC, NTF4, OPTN, PAX6, PITX2, PITX3, SBF2, SLC4A4, WDR36 Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale. Testi valmimisaeg: 6-9 nädalat Nõuded proovi- materjalile: 2-4 ml täisverd antikoagulandiga EDTA
- [Bardet-Biedli-, McKusick-Kaufmani-, Borjeson-Forssman-Lehmanni- ja Alstromi sündroom ning Albrighti pärilik osteodüstroofia](https://www.asperbio.com/asper-ophthalmics/bardet-biedl-syndrome-mckusick-kaufman-syndrome-borjeson-forssman-lehmann-syndrome-alstrom-syndrome-albright-hereditary-osteodystrophy-genetic-testing-ngs-panel) - Bardet-Biedli, McKusick-Kaufmani, Borjeson-Forssman-Lehmanni ja Alstromi sündroom ning Albrighti pärilik osteodüstroofia
- [Akromatopsia](https://www.asperbio.com/asper-ophthalmics/achromatopsia-ngs-panel/genetic-testing) - ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H
- [List of diseases covered by Ashkenazi Jewish diseases NGS panel](https://www.asperbio.com/asper-reprogenetics/ashkenazi-jewish-diseases-2/list-of-diseases-covered-by-ashkenazi-jewish-diseases-ngs-panel/) - List of diseases covered by Ashkenazi Jewish diseases NGS panel
- [Eksoomi sekveneerimine](https://www.asperbio.com/asper-nephrology/whole-exome-sequencing/) - Eksoomi sekveneerimine Geenid: Kogu eksoom Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale. Testi valmimisaeg: 10 nädalat Nõuded proovi- materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 4 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl A260/A280 suhe peaks
- [Senior-Loken sündroomiga seotud geenide sekveneerimine](https://www.asperbio.com/asper-nephrology/senior-loken-syndrome-ngs-panel/) - Senior-Loken sündroomiga seotud geenide sekveneerimine Geenid: CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1, WDR19 Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale. Testi valmimisaeg: 6-9 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d elueerituna TE, AE puhvris või
- [Primaarse tsiliaarse düskineesiaga seotud geenide sekveneerimine](https://www.asperbio.com/asper-nephrology/primary-ciliary-dyskinesia-ngs-panel/) - Primaarse tsiliaarse düskineesiaga seotud geenide sekveneerimine Geenid: ARMC4, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CENPF, CFAP298, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, DNAI2, DNAL1, DRC1, GAS8, LRRC6, MCIDAS, NME8, PIH1D3, RPGR, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, ZMYND10 Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine
- [Polütsüstneeruga seotud geenide sekveneerimine](https://www.asperbio.com/asper-nephrology/polycystic-kidney-disease-ngs-panel/) - Polütsüstneeruga seotud geenide sekveneerimine Geenid: ALG8, ANKS6, BICC1, COL4A1, DNAJB11, DZIP1L, GANAB, HNF1B, LRP5, MUC1, NOTCH2, OFD1, PKD1, PKD2, PKHD1, PRKCSH, SEC63, SEC61A1, TSC1, TSC2, UMOD, VHL, ZNF423 Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale. Testi valmimisaeg: 6-9 nädalat Nõuded proovi-materjalile: 2-4 ml
- [Nefrootilise sündroomiga seotud geenide sekveneerimine](https://www.asperbio.com/asper-nephrology/nephrotic-syndrome-ngs-panel/) - Nefrootilise sündroomiga seotud geenide sekveneerimine Geenid: ACTN4, ARHGDIA, COQ2, COQ8B, DGKE, EMP2, ITGA3, LAMB2, NPHS1, NPHS2, PLCE1, PTPRO, SMARCAL1, WDR73, WT1 Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale. Testi valmimisaeg: 6-9 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg
- [Medullaarse tsüstneeruga seotud geenide sekveneerimine](https://www.asperbio.com/asper-nephrology/nephronophthisis-ngs-panel/) - Medullaarse tsüstneeruga seotud geenide sekveneerimine Geenid: ANKS6, CEP83, CEP164, CEP290, DCDC2, GLIS2, INVS, IFT172, IQCB1, NEK8, NPHP1, NPHP3, NPHP4, RPGRIP1L, SDCCAG8, TMEM67, TTC21B, WDR19, XPNPEP3, ZNF423 Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale. Testi valmimisaeg: 6-9 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga
- [Hemolüütilis-ureemilise sündroomiga  seotud geenide sekveneerimine](https://www.asperbio.com/asper-nephrology/hemolytic-uremic-syndrome-ngs-panel/) - Hemolüütilis-ureemilise sündroomiga seotud geenide sekveneerimine Geenid: ADAMTS13, C3, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, DGKE, THBD Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale. Testi valmimisaeg: 6-9 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d elueerituna
- [Tsiliopaatiatega seotud geenide sekveneerimine](https://www.asperbio.com/asper-nephrology/ciliopathy-ngs-panel/) - Tsiliopaatiatega seotud geenide sekveneerimine Geenid: ACVR2B, ADGRV1, AHI1, AIPL1, ALMS1, ANKS6, ARL13B, ARL6, ARMC4, ATXN10, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C2CD3, C2ORF71, C5ORF42, C8ORF37, C21ORF2, CC2D2A, CCDC103, CCDC114, CCDC151, CCDC28B, CCDC39, CCDC40, CCDC65, CCNO, CDH23, CFAP298, CEP104, CEP120, CEP164, CEP290, CEP41, CEP83, CFTR, CLRN1, CRB1, CSPP1, DCDC2, DNAAF1, DNAAF2, DNAAF3,
- [Branchio-oto-renaalse sündroomiga seotud geenide sekveneerimine](https://www.asperbio.com/asper-nephrology/branchiootorenal-syndrome-ngs-panel/) - Branchio-oto-renaalse sündroomiga seotud geenide sekveneerimine Geenid: EYA1, SIX1, SIX5 Metoodika: Kodeeriva piirkonna sekveneerimine (NGS) Testi valmimisaeg: 6-9 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl DNA saata toatemperatuuril või külmutatuna. A260/A280 suhe peaks olema 1.8-2.0. DNA peab agaroosgeelis olema detekteeritav
- [Bartteri sündroomiga seotud geenide sekveneerimine](https://www.asperbio.com/asper-nephrology/bartter-syndrome-ngs-panel/) - Bartteri sündroomiga seotud geenide sekveneerimine Geenid: ATP6V1B1, BSND, CA2, CASR, CLCNKA, CLCNKB, CLDN16, CLDN19, FXYD2, GNA11, HSD11B2, KCNJ1, KCNJ10, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, SLC12A1, SLC12A2, SLC12A3, SLC4A1, SLC4A4, WNK1, WNK4 Metoodika: Kodeeriva piirkonna sekveneerimine (NGS). Koopiaarvu muutuste bioinformaatiline analüüs (CNV). CNV leidude kinnitamine teise meetodiga toimub lisaanalüüsina, vastavalt hinnakirjale. Testi valmimisaeg: 6-9 nädalat Nõuded
- [List of diseases covered by Senior-Loken Syndrome NGS panel](https://www.asperbio.com/asper-nephrology/senior-loken-syndrome-ngs-panel/list-of-diseases-covered-by-senior-loken-syndrome-ngs-panel/) - List of diseases covered by Senior-Loken Syndrome NGS panel
- [List of diseases covered by Primary Ciliary Dyskinesia NGS panel](https://www.asperbio.com/asper-nephrology/primary-ciliary-dyskinesia-ngs-panel/list-of-diseases-covered-by-primary-ciliary-dyskinesia-ngs-panel/) - List of diseases covered by Primary Ciliary Dyskinesia NGS panel
- [List of diseases covered by Nephronophthisis NGS panel](https://www.asperbio.com/asper-nephrology/nephronophthisis-ngs-panel/list-of-diseases-covered-by-nephronophthisis-ngs-panel/) - List of diseases covered by Nephronophthisis NGS panel
- [List of diseases covered by Hemolytic Uremic Syndrome NGS panel](https://www.asperbio.com/asper-nephrology/hemolytic-uremic-syndrome-ngs-panel/list-of-diseases-covered-by-hemolytic-uremic-syndrome-ngs-panel/) - List of diseases covered by Hemolytic Uremic Syndrome NGS panel
- [List of diseases covered by Ciliopathy NGS panel](https://www.asperbio.com/asper-nephrology/ciliopathy-ngs-panel/list-of-diseases-covered-by-ciliopathy-ngs-panel/) - List of diseases covered by Ciliopathy NGS panel
- [List of diseases covered by Bartter Syndrome NGS panel](https://www.asperbio.com/asper-nephrology/bartter-syndrome-ngs-panel/list-of-diseases-covered-by-bartter-syndrome-ngs-panel/) - List of diseases covered by Bartter Syndrome NGS panel
- [List of diseases covered by Hereditary Hemorrhagic Telangiectasia NGS panel](https://www.asperbio.com/asper-cardiogenetics/hereditary-hemorrhagic-telangiectasia-ngs-panel/list-of-diseases-covered-by-hereditary-hemorrhagic-telangiectasia-ngs-panel/) - List of diseases covered by Hereditary Hemorrhagic Telangiectasia NGS panel
- [List of diseases covered by Breast and Ovarian Cancer NGS panel](https://www.asperbio.com/asper-oncogenetics/hereditary-breast-and-ovarian-cancer-brca/list-of-diseases-covered-by-breast-and-ovarian-cancer-ngs-panel/) - List of diseases covered by Breast and Ovarian Cancer NGS panel
- [Whole Exome Sequencing](https://www.asperbio.com/whole-exome-sequencing/) - Whole Exome Sequencing
- [List of diseases covered by Bardet-Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson-Forssman-Lehmann Syndrome, Alström Syndrome, Albright Hereditary Osteodystrophy NGS panel](https://www.asperbio.com/asper-ophthalmics/bardet-biedl-syndrome-mckusick-kaufman-syndrome-borjeson-forssman-lehmann-syndrome-alstrom-syndrome-albright-hereditary-osteodystrophy-2/list-of-diseases-covered-by-bardet-biedl-syndrome-mckusick-kaufman-syndrome-borjeson-forssman-lehmann-syndrome-alstrom-syndrome-albright-hereditary-osteodystrophy-ngs-panel/) - List of diseases covered by Bardet-Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson-Forssman-Lehmann Syndrome, Alström Syndrome, Albright Hereditary Osteodystrophy NGS panel
- [Whole Genome Sequencing](https://www.asperbio.com/ngs-service/whole-genome-sequencing/) - Whole genome sequencing (WGS) determines the complete DNA sequence of an individual's genome, including chromosomal DNA and mitochondrial DNA.
- [List of diseases covered by Ectopia Lentis NGS panel](https://www.asperbio.com/asper-ophthalmics/ectopia-lentis-ngs-panel/list-of-diseases-covered-by-ectopia-lentis-ngs-panel/) - List of diseases covered by Ectopia Lentis NGS panel
- [List of diseases covered by Frontotemporal Dementia NGS panel](https://www.asperbio.com/asper-neurogenetics/frontotemporal-dementia/list-of-diseases-covered-by-frontotemporal-dementia-ngs-panel/) - List of diseases covered by Frontotemporal Dementia NGS panel
- [List of diseases covered by Parkinson Disease NGS panel](https://www.asperbio.com/asper-neurogenetics/parkinson-disease/list-of-diseases-covered-by-parkinson-disease-ngs-panel/) - List of diseases covered by Parkinson Disease NGS panel
- [Von Hippel-Lindau sündroomiga seotud VHL geeni sekveneerimine](https://www.asperbio.com/et/asper-oncogenetics-testid/von-hippel-lindau-sundroomiga-seotud-vhl-geeni-sekveneerimine/) - Von Hippel-Lindau sündroomiga seotud NBN geeni sekveneerimine
- [List of diseases covered by Coagulation Disorders NGS panel](https://www.asperbio.com/asper-hematology/coagulation-disorders-ngs-panel/list-of-diseases-covered-by-coagulation-disorders-ngs-panel/) - List of diseases covered by Coagulation Disorders NGS panel
- [List of diseases covered by Palmoplantar Keratoderma NGS panel](https://www.asperbio.com/asper-dermatology/palmoplantar-keratoderma-ngs-panel/list-of-diseases-covered-by-palmoplantar-keratoderma-ngs-panel/) - List of diseases covered by Palmoplantar Keratoderma NGS panel
- [List of diseases covered by Congenital Myasthenic Syndrome NGS panel](https://www.asperbio.com/asper-neurogenetics/congenital-myasthenic-syndrome-ngs-panel/list-of-diseases-covered-by-congenital-myasthenic-syndrome-ngs-panel/) - List of diseases covered by Congenital Myasthenic Syndrome NGS panel
- [Nijmegeni murru sündroom](https://www.asperbio.com/asper-oncogenetics/nijmegen-breakage-syndrome/) - Nijmegeni murru sündroomiga seotud NBN geeni sekveneerimine Geenid: NBN Metoodika: Kodeeriva piirkonna sekveneerimine (Sanger) Testi valmimisaeg: 2-4 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1,5 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl DNA saata toatemperatuuril või külmutatuna. A260/A280 suhe peaks olema 1.8-2.0. DNA peab agaroosgeelis pikkusmarkeri
- [List of diseases covered by Primary Ciliary Dyskinesia NGS panel](https://www.asperbio.com/asper-reprogenetics/primary-ciliary-dyskinesia-ngs-panel/list-of-diseases-covered-by-primary-ciliary-dyskinesia-ngs-panel/) - List of diseases covered by Primary Ciliary Dyskinesia NGS panel
- [Supportive services](https://www.asperbio.com/ordering/NGS/supportive-services/) - Bioinformatic analysis and interpretation of customer’s genetic data, pre- and post-test consultation.
- [Mikrosatelliitide ebastabiilsus](https://www.asperbio.com/et/asper-oncogenetics-testid/mikrosatelliitide-ebastabiilsus/) - Mikrosatelliitide ebastabiilsuse analüüs Markerite arv: 7 Metoodika: Fragmentanalüüs Testi valmimisaeg: 3 nädalat Nõuded proovi-materjalile: Formaliinis fikseeritud parafiinblokk kasvajakoega ja terve kude Parim kasvajakoe materjal on ravieelne biopsia Parim terve koe materjal on 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) Kasvajakoega parafiinbloki säilitus- ja transpordi temperatuur võiks olla vahemikus 20-25°C Testi tulemusi ei ole võimalik väljastada, kui
- [List of diseases covered by Senior-Loken Syndrome NGS panel](https://www.asperbio.com/asper-ophthalmics/senior-loken-syndrome/list-of-diseases-covered-by-senior-loken-syndrome-ngs-panel/) - List of diseases covered by Senior-Loken Syndrome NGS panel
- [List of diseases covered by Cone-Rod Dystrophy NGS panel](https://www.asperbio.com/asper-ophthalmics/cone-rod-dystrophy/list-of-diseases-covered-by-cone-rod-dystrophy-ngs-panel/) - List of diseases covered by Cone-Rod Dystrophy NGS panel
- [List of diseases covered by Hypertrophic Cardiomyopathy NGS panel](https://www.asperbio.com/asper-cardiogenetics/hypertrophic-cardiomyopathy/list-of-diseases-covered-by-hypertrophic-cardiomyopathy-ngs-panel/) - List of diseases covered by Hypertrophic Cardiomyopathy NGS panel
- [List of diseases covered by Maturity Onset Diabetes of the Young (MODY) NGS panel](https://www.asperbio.com/asper-endocrinology/maturity-onset-diabetes-of-the-young-mody-ngs-panel/list-of-diseases-covered-by-maturity-onset-diabetes-of-the-young-mody-ngs-panel/) - List of diseases covered by Maturity Onset Diabetes of the Young (MODY) NGS panel
- [List of diseases covered by Combined Pituitary Hormone Deficiency NGS panel](https://www.asperbio.com/asper-endocrinology/combined-pituitary-hormone-deficiency/list-of-diseases-covered-by-combined-pituitary-hormone-deficiency-ngs-panel/) - List of diseases covered by Combined Pituitary Hormone Deficiency NGS panel
- [List of diseases covered by Thrombocytopenia NGS panel](https://www.asperbio.com/asper-hematology/thrombocytopenia/list-of-diseases-covered-by-thrombocytopenia-ngs-panel/) - List of diseases covered by Thrombocytopenia NGS panel
- [List of diseases covered by Thyroid Dyshormonogenesis NGS panel](https://www.asperbio.com/asper-endocrinology/thyroid-dyshormonogenesis-ngs-panel/list-of-diseases-covered-by-thyroid-dyshormonogenesis-ngs-panel/) - List of diseases covered by Thyroid Dyshormonogenesis NGS panel
- [List of diseases covered by Fanconi Anemia NGS panel](https://www.asperbio.com/asper-hematology/fanconi-anemia/list-of-diseases-covered-by-fanconi-anemia-ngs-panel/) - List of diseases covered by Fanconi Anemia NGS panel
- [List of diseases covered by Zellweger Spectrum Disorders NGS panel](https://www.asperbio.com/asper-otogenetics/zellweger-spectrum-disorders/list-of-diseases-covered-by-zellweger-spectrum-disorders-ngs-panel/) - List of diseases covered by Zellweger Spectrum Disorders NGS panel
- [List of diseases covered by Stickler Syndrome NGS panel](https://www.asperbio.com/asper-otogenetics/stickler-syndrome/list-of-diseases-covered-by-stickler-syndrome-ngs-panel/) - List of diseases covered by Stickler Syndrome NGS panel
- [List of diseases covered by Short QT Syndrome NGS panel](https://www.asperbio.com/asper-cardiogenetics/short-qt-syndrome-ngs-panel/list-of-diseases-covered-by-short-qt-syndrome-ngs-panel/) - List of diseases covered by Short QT Syndrome NGS panel
- [List of diseases covered by Pulmonary Arterial Hypertension NGS panel](https://www.asperbio.com/asper-cardiogenetics/pulmonary-arterial-hypertension-ngs-panel/list-of-diseases-covered-by-pulmonary-arterial-hypertension-ngs-panel/) - List of diseases covered by Pulmonary Arterial Hypertension NGS panel
- [List of diseases covered by Long QT Syndrome NGS panel](https://www.asperbio.com/asper-cardiogenetics/long-qt-syndrome/list-of-diseases-covered-by-long-qt-syndrome-ngs-panel/) - List of diseases covered by Long QT Syndrome NGS panel
- [List of diseases covered by Catecholaminergic Polymorphic Ventricular Tachycardia NGS panel](https://www.asperbio.com/asper-cardiogenetics/catecholaminergic-polymorphic-ventricular-tachycardia/list-of-diseases-covered-by-catecholaminergic-polymorphic-ventricular-tachycardia-ngs-panel/) - List of diseases covered by Catecholaminergic Polymorphic Ventricular Tachycardia NGS panel
- [List of diseases covered by Brugada Syndrome NGS panel](https://www.asperbio.com/asper-cardiogenetics/brugada-syndrome/list-of-diseases-covered-by-brugada-syndrome-ngs-panel/) - List of diseases covered by Brugada Syndrome NGS panel
- [List of diseases covered by Thyroid Cancer NGS panel](https://www.asperbio.com/asper-oncogenetics/thyroid-cancer-ngs-panel/list-of-diseases-covered-by-thyroid-cancer-ngs-panel/) - List of diseases covered by Thyroid Cancer NGS panel
- [List of diseases covered by Polyposis Syndromes NGS panel](https://www.asperbio.com/asper-oncogenetics/lynch-syndrome-and-polyposis-syndrome/list-of-diseases-covered-by-polyposis-syndromes-ngs-panel/) - List of diseases covered by Polyposis Syndromes NGS panel
- [List of diseases covered by Fanconi Anemia NGS panel](https://www.asperbio.com/asper-oncogenetics/fanconi-anemia/list-of-diseases-covered-by-fanconi-anemia-ngs-panel/) - List of diseases covered by Fanconi Anemia NGS panel
- [List of diseases covered by Urea Cycle Disorder NGS panel](https://www.asperbio.com/asper-metabolic-disorders/urea-cycle-disorder-ngs-panel/list-of-diseases-covered-by-urea-cycle-disorder-ngs-panel/) - List of diseases covered by Urea Cycle Disorder NGS panel
- [List of diseases covered by Porphyria NGS panel](https://www.asperbio.com/asper-metabolic-disorders/porphyria-ngs-panel/list-of-diseases-covered-by-porphyria-ngs-panel/) - List of diseases covered by Porphyria NGS panel
- [List of diseases covered by Lysosomal Storage Disease NGS panel](https://www.asperbio.com/asper-metabolic-disorders/lysosomal-storage-disease-ngs-panel/list-of-diseases-covered-by-lysosomal-storage-disease-ngs-panel/) - List of diseases covered by Lysosomal Storage Disease NGS panel
- [List of diseases covered by Hemochromatosis NGS panel](https://www.asperbio.com/asper-metabolic-disorders/hemochromatosis-ngs-panel/list-of-diseases-covered-by-hemochromatosis-ngs-panel/) - List of diseases covered by Hemochromatosis NGS panel
- [List of diseases covered by Skeletal Ciliopathies NGS panel](https://www.asperbio.com/asper-dysmorphology/jeune-syndrome-ngs-panel/list-of-diseases-covered-by-skeletal-ciliopathies-ngs-panel/) - List of diseases covered by Skeletal Ciliopathies NGS panel
- [List of diseases covered by Glycogen Storage Disease NGS panel](https://www.asperbio.com/asper-metabolic-disorders/glycogen-storage-disease-ngs-panel/list-of-diseases-covered-by-glycogen-storage-disease-ngs-panel/) - List of diseases covered by Glycogen Storage Disease NGS panel
- [List of diseases covered by Fatty Acid Oxidation Disorder NGS panel](https://www.asperbio.com/asper-metabolic-disorders/fatty-acid-oxidation-disorder-ngs-panel/list-of-diseases-covered-by-fatty-acid-oxidation-disorder-ngs-panel/) - Fatty Acid Oxidation Disorder NGS panel
- [List of diseases covered by Neurodegeneration with Brain Iron Accumulation NGS panel](https://www.asperbio.com/asper-neurogenetics/neurodegeneration-with-brain-iron-accumulation-ngs-panel/list-of-diseases-covered-by-neurodegeneration-with-brain-iron-accumulation-ngs-panel/) - List of diseases covered by Neurodegeneration with Brain Iron Accumulation NGS panel
- [Asper Biogene Data Renewal Form](https://www.asperbio.com/asper-biogene-data-protection-renewal-form/) - Please update your data to continue recieving updates and information about Asper Biogene's genetic testing services
- [Payment](https://www.asperbio.com/genetic-testing-process/dna-test-genetic-test-payment/) - Genetic tests payment options
- [List of diseases covered by Cornelia de Lange Syndrome NGS panel](https://www.asperbio.com/cornelia-de-lange-syndrome/list-of-diseases-covered-by-cornelia-de-lange-syndrome-ngs-panel/) - List of diseases covered by Cornelia de Lange Syndrome NGS panel
- [List of diseases covered by Hereditary Sideroblastic Anemia NGS panel](https://www.asperbio.com/asper-hematology/hereditary-sideroblastic-anemia-ngs-panel/list-of-diseases-covered-by-hereditary-sideroblastic-anemia-ngs-panel/) - List of diseases covered by Hereditary Sideroblastic Anemia NGS panel
- [List of diseases covered by Amyotrophic Lateral Sclerosis NGS panel](https://www.asperbio.com/asper-neurogenetics/amyotrophic-lateral-sclerosis-ngs-panel/list-of-diseases-covered-by-amyotrophic-lateral-sclerosis-ngs-panel/) - List of diseases covered by Amyotrophic Lateral Sclerosis NGS panel
- [List of diseases covered by Leber Congenital Amaurosis NGS panel](https://www.asperbio.com/asper-ophthalmics/leber-congenital-amaurosis-lca/list-of-diseases-covered-by-leber-congenital-amaurosis-ngs-panel/) - List of diseases covered by Leber Congenital Amaurosis NGS panel
- [List of diseases covered by Glaucoma NGS panel](https://www.asperbio.com/asper-ophthalmics/glaucoma/list-of-diseases-covered-by-glaucoma-ngs-panel/) - List of diseases covered by glaucoma NGS panel
- [List of diseases covered by Corneal Dystrophy NGS panel](https://www.asperbio.com/asper-ophthalmics/cornea-corneal-dystrophy/list-of-diseases-covered-by-corneal-dystrophy-ngs-panel/) - List of diseases covered by Corneal Dystrophy NGS panel
- [List of diseases covered by Congenital Stationary Night Blindness NGS panel](https://www.asperbio.com/asper-ophthalmics/congenital-stationary-night-blindness-csnb/list-of-diseases-covered-by-congenital-stationary-night-blindness-ngs-panel/) - List of diseases covered by Congenital Stationary Night Blindness NGS panel
- [Ealise maakuli degeneratsiooniga seotud geenide mutatsioonanalüüsi tellimine arstidele](https://www.asperbio.com/et/ealise-maakuli-degeneratsiooniga-seotud-geenide-mutatsioonanaluus/) - Ealise maakuli degeneratsiooniga seotud geenide mutatsioonanalüüsi tellimine Geenid: CFH ja ARMS2 Markerid: 3 Metoodika: Sanger sekveneerimine Testi valmimisaeg: 2-4 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 500 ng DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl DNA saata toatemperatuuril või külmutatuna. A260/A280 suhe peaks olema 1.8-2.0. DNA peab agaroosgeelis
- [Androgeeni resistentsuse sündroomiga seotud AR geeni sekveneerimine](https://www.asperbio.com/asper-endocrinology/androgen-insensitivity-syndrome/) - Androgeeni resistentsuse sündroomiga seotud AR geeni sekveneerimine Geen: AR Metoodika: Kodeeriva piirkonna sekveneerimine (Sanger) Testi valmimisaeg: 2-4 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1,2 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl DNA saata toatemperatuuril või külmutatuna. A260/A280 suhe peaks olema 1.8-2.0. DNA peab agaroosgeelis pikkusmarkeri
- [Perekondlik adenomatoosne polüpoos](https://www.asperbio.com/asper-oncogenetics/familial-adenomatous-polyposis-fap-genetic-testing) - Adenomatoosse polüpoosiga seotud APC geeni sekveneerimine Geenid: APC Metoodika: Kodeeriva piirkonna sekveneerimine (Sanger) Testi valmimisaeg: 2-4 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 2 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl DNA saata toatemperatuuril või külmutatuna. A260/A280 suhe peaks olema 1.8-2.0. DNA peab agaroosgeelis pikkusmarkeri juuresolekul
- [Retinoblastoom](https://www.asperbio.com/asper-ophthalmics/retinoblastoma/genetic-testing/rb1-gene-sequencing) - Retinoblastoomiga seotud RB1 geeni sekveneerimine Geenid: RB1 Metoodika: Kodeeriva piirkonna sekveneerimine (NGS) Testi valmimisaeg: 6-9 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl DNA saata toatemperatuuril või külmutatuna. A260/A280 suhe peaks olema 1.8-2.0. DNA peab agaroosgeelis olema detekteeritav ühe tervikliku bändina.
- [List of diseases covered by Congenital Myopathy and Distal Myopathy NGS panel](https://www.asperbio.com/asper-neurogenetics/congenital-myopathy-and-distal-myopathy-ngs-panel/list-of-diseases-covered-by-congenital-myopathy-and-distal-myopathy-ngs-panel/) - List of diseases covered by Congenital Myopathy and Distal Myopathy NGS panel
- [List of diseases covered by Autosomal Dominant Retinitis Pigmentosa NGS panel](https://www.asperbio.com/asper-ophthalmics/autosomal-dominant-retinitis-pigmentosa-ad-rp/list-of-diseases-covered-by-autosomal-dominant-retinitis-pigmentosa-ngs-panel/) - List of diseases covered by Autosomal Dominant Retinitis Pigmentosa NGS panel
- [List of diseases covered by Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis](https://www.asperbio.com/asper-ophthalmics/anophthalmiamicrophthalmiacolobomaanterior-segment-dysgenesis-ngs-panel/list-of-diseases-covered-by-anophthalmia-microphthalmia-coloboma-anterior-segment-dysgenesis/) - List of diseases covered by Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis
- [Shipment of samples](https://www.asperbio.com/genetic-testing-process/shipment-of-the-dna-samples/) - Since high quality DNA samples are stable, there is no need for shipment in dry or wet ice. Read more.
- [List of diseases covered by AMD NGS panel](https://www.asperbio.com/asper-ophthalmics/age-related-macular-degeneration-amd-2/list-of-diseases-covered-by-amd-ngs-panel/) - List of diseases covered by the Age Related Macular Degeneration NGS panel
- [List of diseases covered by Achromatopsia NGS panel](https://www.asperbio.com/asper-ophthalmics/achromatopsia-ngs-panel/list-of-diseases-covered-by-achromatopsia-ngs-panel/) - List of diseases covered by Achromatopsia NGS panel
- [Mitteinvasiivne sünnieelne testimine](https://www.asperbio.com/et/asper-reprogenetics-testid-2/mitteinvasiivne-sunnieelne-testimine/) - Mitteinvasiivne sünnieelne testimine Lisaks invasiivsetele sünnieelsetele protseduuridele nagu amniotsentees ja koorionihattude biopsia on loote kromosoomimuutusi võimalik nüüd määrata ka ema vereproovist loote rakuvaba DNA analüüsimise kaudu. Testida saab juba alates 10. rasedusnädalast ja sellega ei kaasne riski raseduse katkemiseks. Sequenom Laboratories on välja töötanud kaks mitteinvasiivset sünnieelset testi - MaterniT21™ PLUS ja VisibiliT™. Testide tulemused saab juba viie
- [Ordering information](https://www.asperbio.com/genetic-testing/next-generation-sequencing/ordering-genetic-tests/) - Ordering genetic test - Please fill in the sample submission form which helps to improve and accelerate the handling of DNA samples, and include it in the package.
- [Smith-Lemli-Opitz sündroom](https://www.asperbio.com/asper-metabolic-disorders/smith-lemli-opitz-syndrome/) - Smith-Lemli-Opitz sündroomiga seotud DHCR7 geeni sekveneerimine
- [Smith-Lemli-Opitzi sündroom](https://www.asperbio.com/asper-dysmorphology/smith-lemli-opitz-syndrome/) - DHCR7
- [Ealise maakuli degeneratsiooniga seotud geenide sekveneerimise tellimine](https://www.asperbio.com/et/ealise-maakuli-degeneratsiooniga-seotud-geenide-sekveneerimine/) - Ealise maakuli degeneratsiooniga seotud geenide sekveneerimise tellimine Geenid: ABCA4, ARMS2, C2, C3, C9, CCR3, CFB, CFH, CFI, CST3, CXCL8, CX3CR1, ERCC6, FBLN5, HMCN1, HTRA1, IL6, IL1A, NLRP3, RAX2, TLR4 Metoodika: Riskigeenide kodeeriva piirkonna sekveneerimine (NGS) Testi valmimisaeg: 6-9 nädalat Nõuded proovi-materjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) 1 µg DNA-d elueerituna TE, AE puhvris
- [Jervelli ja Lange-Nielsoni sündroom](https://www.asperbio.com/asper-otogenetics/jervell-and-lange-nielson-syndrome/) - Jervelli ja Lange-Nielsoni sündroomi geneetiline testimine
- [Statiin-seoseline müopaatia](https://www.asperbio.com/asper-cardiogenetics/statin-induced-myopathy/) - Statiin-seoselise müopaatia geneetiline testimine
- [Fragiilse X-i sündroom](https://www.asperbio.com/asper-reprogenetics/fragile-x-syndrome/genetic-testing) - FMR1
- [Loote rakkude kontaminatsioon ema materjaliga](https://www.asperbio.com/asper-reprogenetics/maternal-cell-contamination/) - Loote rakkude kontaminatsioon ema materjaliga Test: Loote rakkude kontaminatsioon ema materjaliga Metoodika: Fragmentanalüüs Testi valmimisaeg: 1 nädal Nõuded proovi- materjalile: Emalt 2-4 ml täisverd K2E/K3E katsutis (lilla kork) Ema verest eraldatud 30-50 ng DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl Loote koorioni- või amnionirakkudest eraldatud 30-50 ng DNA-d elueerituna TE, AE puhvris või
- [X-liiteline reetina kihtide eraldumine](https://www.asperbio.com/asper-ophthalmics/x-linked-retinoschisis-genetic-testing-RS1-gene-sequencing) - X-liiteline reetina kihtide eraldumine
- [Papillorenaalne sündroom](https://www.asperbio.com/asper-ophthalmics/papillorenal-syndrome/genetic-testing/pax2-gene-sequencing) - PAX2 geeni sekveneerimine
- [Norrie haigus](https://www.asperbio.com/asper-ophthalmics/norrie-disease/genetic-testing/NDP-gene-sequencing) - NDP geeni sekveneerimine
- [Whole Exome Sequencing](https://www.asperbio.com/asper-biotech/NGS-service-exome-sequencing-DNA+tests) - Exome sequencing includes the sequencing of the protein coding regions and their flanking intronic regions in ~20,000 genes of the human genome.
- [Uudised](https://www.asperbio.com/news)
- [Ordering](https://www.asperbio.com/genetic-testing-process/) - Ordering information Go to Online ordering or 1. Download the sample submission form (see right-side panel) 2. Fill in the form 3. Enclose the form in the package Send samples to the following address: Asper Biotech Vaksali 17a Tartu 50410 Estonia
- [Skeleti düsplaasia](https://www.asperbio.com/et/asper-reprogenetics-testid-2/skeleti-dusplaasia/) - Skeleti düsplaasiad Skeleti düsplaasiate põhjuseks on mutatsioonid mitmetes geenides, mis põhjustavad erinevaid pärilikke haigusi ja sündroome. Sagedasemad sündroomid, mida seostatakse skeleti anomaaliatega, on akondroplaasia, hüpokondroplaasia, kraniosünostoos. Testi abil saab määrata 25 erinevat sündroomi nagu hüpokondroplaasia, tanatofoorne düsplaasia (tüüp I ja II), akondroplaasia, kraniosünostoos/Muenke sündroom, Crouzoni sündroom naha tumenemisega, Pfeifferi sündroom, Jackson-Weissi sündroom, Beare-Stevensoni sündroom, Aperti
- [FGFR2 geeni mutatsioonid](https://www.asperbio.com/et/asper-reprogenetics-testid-2/fgfr2-geeni-mutatsioonid/) - FGFR2 geeni mutatsioonid FGFR2 geeni mutatsioone seostatakse haigustega nagu Crouzoni sündroom, Pfeifferi sündroom, kraniosünostoos, Jackson-Weissi sündroom, Beare-Stevensoni sündroom, Aperti sündroom või Saethre-Chotzeni sündroom. Fibroblasti kasvufaktorid (FGF) on seotud erinevate protsesside, muuhulgas angiogeneesi, rakkude kasvu ja jagunemise ning loote arengu reguleerimisega. FGF-id seonduvad fibroblasti kasvufaktorite retseptoritega (FGFR) raku pinnal, mis viib erinevate signaalradade aktiveerimiseni. Mitmeid muutusi FGFR
- [Beeta talasseemia](https://www.asperbio.com/et/asper-reprogenetics-testid-2/12671-2/) - Beeta talasseemia Beeta talasseemia on autosoom-retsessiivselt päranduv haigus, mille põhjuseks on β globiini ahela vähenenud süntees või sünteesi puudumine. Selle tulemuseks on hemoglobiin A sünteesi vähenemine, mikrotsütaarne hüpokroomne aneemia ja erütrotsütoos. Kliinilise pildi alusel võib eristada beeta talasseemia rasket, keskmist ja kerget vormi. Raske talasseemia avaldub juba esimestel elukuudel, iseloomulik on puudulik erütropoees ja ekstramedullaarne
- [Kohandatud geenitestid sulle](https://www.asperbio.com/adjusted-gene-panels-for-you/)
- [Adjusted gene panels for you](https://www.asperbio.com/adjusted-gene-panels-for-you/)
- [Proovimaterjal sünnieelseks testimiseks](https://www.asperbio.com/et/asper-reprogenetics-testid-2/proovimaterjal-sunnieelseks-testimiseks/) - Proovimaterjal sünnieelseks testimiseks Proovimaterjal sünnieelseks testimiseks on loote koorioni- või amnionirakkudest eraldatud DNA. Testi teostamiseks vajalik DNA kogus on 100 ng. Soovituslik DNA kontsentratsioon on 100-250 ng/µl. Vajalik on lisauuring välistamaks loote rakkude kontaminatsiooni ema materjaliga. Proovimaterjaliks on emalt võetud 2-4 ml täisverd antikoagulandiaga EDTA või 30-50 ng DNA-d.
- [Proovimaterjal sünnieelseks testimiseks](https://www.asperbio.com/asper-ophthalmics/requirements-for-prenatal-testing/) - Proovimaterjal sünnieelseks testimiseks Proovimaterjal sünnieelseks testimiseks on loote koorioni- või amnionirakkudest eraldatud DNA. Testi teostamiseks vajalik DNA kogus on 100 ng. Soovituslik DNA kontsentratsioon on 100-250 ng/µl. Vajalik on lisauuring välistamaks loote rakkude kontaminatsiooni ema materjaliga. Proovimaterjaliks on emalt võetud 2-4 ml täisverd antikoagulandiaga EDTA või 30-50 ng DNA-d.
- [Proovimaterjal sünnieelseks testimiseks](https://www.asperbio.com/et/asper-neurogenetics-testid/proovimaterjal-sunnieelseks-testimiseks/) - Proovimaterjal sünnieelseks testimiseks Proovimaterjaliks on loote koorioni- või amnionirakkudest eraldatud DNA. Testi teostamiseks vajalik DNA kogus on 100 ng. Soovituslik DNA kontsentratsioon on 100-250 ng/µl. Vajalik on lisauuring välistamaks loote rakkude kontaminatsiooni ema materjaliga. Proovimaterjaliks on emalt võetud 2-4 ml täisverd antikoagulandiaga EDTA või 30-50 ng DNA-d.
- [Proovimaterjal sünnieelseks testimiseks](https://www.asperbio.com/asper-cardiogenetics/requirements-for-noonan-syndrome-prenatal-testing/) - Proovimaterjal sünnieelseks testimiseks Proovimaterjaliks on loote koorioni- või amnionirakkudest eraldatud DNA. Testi teostamiseks vajalik DNA kogus on 100 ng. Soovituslik DNA kontsentratsioon on 100-250 ng/µl. Vajalik on lisauuring välistamaks loote rakkude kontaminatsiooni ema materjaliga. Proovimaterjaliks on emalt võetud 2-4 ml täisverd antikoagulandiaga EDTA või 30-50 ng DNA-d.
- [Skeleti düsplaasiaga seotud geenide sekveneerimine](https://www.asperbio.com/et/asper-reprogenetics-testid-2/skeleti-dusplaasia/skeleti-dusplaasiaga-seotud-geenide-sekveneerimine/) - Skeleti düsplaasiaga seotud geenide sekveneerimine Geenid: ALPL, COL2A1, ESCO2, FGFR1, FGFR2, FGFR3, ROR2, SLC26A2, SOX9, TRIP11, WNT5A Metoodika: Kodeeriva piirkonna sekveneerimine (NGS) Testi valmimisaeg: 6-9 nädalat Nõuded proovimaterjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) Vereproov saata toatemperatuuril. Proovi võib säilitada külmkapis 2-8°C juures, kuid mitte kauem kui nädal. Vereproovi mitte külmutada.1 µg DNA-d
- [Sirprakulise aneemiaga seotud HBB geeni sekveneerimine](https://www.asperbio.com/et/asper-reprogenetics-testid-2/sirprakulise-aneemiaga-seotud-hbb-geeni-sekveneerimine/) - Sirprakulise aneemiaga seotud HBB geeni sekveneerimine Geenid: HBB Metoodika: Kodeeriva piirkonna sekveneerimine (Sanger) Testi valmimisaeg: 2-4 nädalat Nõuded proovimaterjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) Vereproov saata toatemperatuuril. Proovi võib säilitada külmkapis 2-8°C juures, kuid mitte kauem kui nädal. Vereproovi mitte külmutada. 300 ng DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250
- [FGFR2 geeni sekveneerimine](https://www.asperbio.com/et/asper-reprogenetics-testid-2/fgfr2-geeni-mutatsioonid/fgfr2-geeni-sekveneerimine/) - FGFR2 geeni sekveneerimine Geenid: FGFR2 Metoodika: Kodeeriva piirkonna sekveneerimine (Sanger) Testi valmimisaeg: 2-4 nädalat Nõuded proovimaterjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) Vereproov saata toatemperatuuril. Proovi võib säilitada külmkapis 2-8°C juures, kuid mitte kauem kui nädal. Vereproovi mitte külmutada. 1 µg DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga 100-250 ng/µl DNA
- [Beeta talasseemiaga seotud HBB geeni sekveneerimine](https://www.asperbio.com/et/asper-reprogenetics-testid-2/12671-2/beeta-talasseemiaga-seotud-hbb-geeni-sekveneerimine/) - Beeta talasseemiaga seotud HBB geeni sekveneerimine Geenid: HBB Metoodika: Kodeeriva piirkonna sekveneerimine (Sanger) Testi valmimisaeg: 2-4 nädalat Nõuded proovimaterjalile: 2-4 ml täisverd antikoagulandiga EDTA (lilla korgiga katsuti) Vereproov saata toatemperatuuril. Proovi võib säilitada külmkapis 2-8°C juures, kuid mitte kauem kui nädal. Vereproovi mitte külmutada. 300 ng DNA-d elueerituna TE, AE puhvris või steriilses vees, kontsentratsiooniga
- [Proovimaterjal sünnieelseks testimiseks](https://www.asperbio.com/asper-otogenetics/proovimaterjal-sunnieelseks-testimiseks/) - Proovimaterjal sünnieelseks testimiseks Proovimaterjal sünnieelseks testimiseks on loote koorioni- või amnionirakkudest eraldatud DNA. Testi teostamiseks vajalik DNA kogus on 100 ng. Soovituslik DNA kontsentratsioon on 100-250 ng/µl.
- [Requirements for Prenatal testing](https://www.asperbio.com/asper-neurogenetics/requirements-for-prenatal-testing/) - Requirements for Prenatal testing The sample material is DNA separated from fetal chorionic cells or amniocytes. The amount of DNA required for the test is 100 ng. Recommended DNA concentration is 100-250 ng/µl. The sample material for excluding maternal DNA contamination, is 2-4ml whole blood with EDTA anticoagulant or 30-50 ng genomic DNA.
- [Requirements for Prenatal testing](https://www.asperbio.com/asper-reprogenetics/requirements-for-prenatal-testing/) - Requirements for Prenatal testing
- [Requirements for Noonan syndrome Prenatal testing](https://www.asperbio.com/asper-cardiogenetics/requirements-for-noonan-syndrome-prenatal-testing/) - Requirements for Prenatal testing The sample material is DNA separated from fetal chorionic cells or amniocytes. The amount of DNA required for the test is 2 µg . Recommended DNA concentration is 20-100 ng/µl. The sample material for excluding maternal DNA contamination, is 2-4ml whole blood with EDTA anticoagulant or 30-50 ng genomic DNA.
- [Requirements for Prenatal testing](https://www.asperbio.com/asper-otogenetics/requirements-for-prenatal-testing/) - Requirements for Prenatal testing
- [Requirements for Prenatal testing](https://www.asperbio.com/asper-ophthalmics/requirements-for-prenatal-testing/) - Requirements for Prenatal testing
- [Limitations of the exome sequencing](https://www.asperbio.com/ngs-service/limitations-of-the-exome-sequencing/) - Exome sequencing does not target 100% of the genes in the human genome; approximately 97% of exons are targeted. However, ~10% of exons may not be covered at sufficient levels to reliably call heterozygous variants. Each individual may have slightly different coverage yield distributions across the exome. Clinical sensitivities and specificities of any individual exome are not calculated. Rare variants at the probe target site may affect analytical sensitivity.
- [BRAF gene mutation analysis](https://www.asperbio.com/asper-oncogenetics/braf-gene-mutation-analysis) - BRAF gene mutation analysis
- [BRAF gene targeted mutation analysis](https://www.asperbio.com/asper-oncogenetics/braf/braf-gene-targeted-mutation-analysis/) - BRAF mutation analysis detects the most frequent BRAF mutation V600E by Real-Time PCR
- [Male Factor Infertility read more](https://www.asperbio.com/asper-reprogenetics/male-factor-infertility-genetic-testing/male-factor-infertility-read-more) - Performing the APEX assay with the addition of determination of Y-deletions allows confirmation of diagnosis and provides insight into the causes of infertility.
- [Cystic Fibrosis read more](https://www.asperbio.com/asper-reprogenetics/cystic-fibrosis-cf-genetic-testing/cystic-fibrosis) - Cystic Fibrosis, Congenital Absence of the Vas Deferens
- [Microsatellite instability read more ](https://www.asperbio.com/asper-oncogenetics/microsatellite-instability-msi-testing/microsatellite-instability-more-info) - For determination of MSI, fragment analysis based test of six markers is used
- [Requirements for SLOS Prenatal testing ](https://www.asperbio.com/asper-reprogenetics/requirements-for-slos-prenatal-testing/) - Requirements for Prenatal testing The sample material is DNA separated from fetal chorionic cells or amniocytes. The amount of DNA required for the test is 500 ng . Recommended DNA concentration is 100-250 ng/µl. The sample material for excluding maternal DNA contamination, is 2-4ml whole blood with EDTA anticoagulant or 30-50 ng genomic DNA.

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- [RDS](https://www.asperbio.com/tag/rds/)
- [X-Linked Retinitis Pigmentosa](https://www.asperbio.com/tag/x-linked-retinitis-pigmentosa/)
- [Vitelliform Macular Dystrophy](https://www.asperbio.com/tag/vitelliform-macular-dystrophy/)
- [Autosomal Dominant Optic Atrophy](https://www.asperbio.com/tag/autosomal-dominant-optic-atrophy/)
- [Age-Related Macular Degeneration](https://www.asperbio.com/tag/age-related-macular-degeneration/)
- [congenital blindness](https://www.asperbio.com/tag/congenital-blindness/)
- [BEST1](https://www.asperbio.com/tag/best1/)
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- [Hutterite genetic diseases](https://www.asperbio.com/tag/hutterite-genetic-diseases/)
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- [GR-PRA1](https://www.asperbio.com/tag/gr-pra1/)
- [Congenital Ichthyosis](https://www.asperbio.com/tag/congenital-ichthyosis/)
- [golden retrievers](https://www.asperbio.com/tag/golden-retrievers/)
- [exome sequencing](https://www.asperbio.com/tag/exome-sequencing/)
- [NGS](https://www.asperbio.com/tag/ngs/)
- [DNA analysis](https://www.asperbio.com/tag/dna-analysis/)
- [Asper Animal Genetics](https://www.asperbio.com/tag/asper-animal-genetics/)
- [APEX technology](https://www.asperbio.com/tag/apex-technology/)
- [Illumina MiSeq](https://www.asperbio.com/tag/illumina-miseq/)
- [CTCtrap](https://www.asperbio.com/tag/ctctrap/)
- [Asper Ophthalmics](https://www.asperbio.com/tag/asper-ophthalmics/)
- [Asper Reprogenetics](https://www.asperbio.com/tag/asper-reprogenetics/)
- [MiSeq](https://www.asperbio.com/tag/miseq/)
- [Mitochondrial Diseases](https://www.asperbio.com/tag/mitochondrial-diseases/)
- [Athletic performance test](https://www.asperbio.com/tag/athletic-performance-test/)
- [Male Factor Infertility](https://www.asperbio.com/tag/male-factor-infertility/)
- [NGS service](https://www.asperbio.com/tag/ngs-service/)
- [Celiac Disease](https://www.asperbio.com/tag/celiac-disease/)
- [Choroideremia](https://www.asperbio.com/tag/choroideremia/)
- [X-Linked Retinoschisis](https://www.asperbio.com/tag/x-linked-retinoschisis/)
- [ISO 15189:2008](https://www.asperbio.com/tag/iso-151892008/)
- [genotyping service](https://www.asperbio.com/tag/genotyping-service/)
- [diagnostic package service](https://www.asperbio.com/tag/diagnostic-package-service/)
- [Charcot-Marie-Tooth Disease](https://www.asperbio.com/tag/charcot-marie-tooth-disease/)
- [Menkes Disease](https://www.asperbio.com/tag/menkes-disease/)
- [Asper Otogenetics](https://www.asperbio.com/tag/asper-otogenetics/)
- [Pendred syndrome](https://www.asperbio.com/tag/pendred-syndrome/)
- [hereditary spastic paraplegia](https://www.asperbio.com/tag/hereditary-spastic-paraplegia/)
- [spinocerebellar ataxia](https://www.asperbio.com/tag/spinocerebellar-ataxia/)
- [hypertrophic cardiomyopathy](https://www.asperbio.com/tag/hypertrophic-cardiomyopathy/)
- [ESHG 2016](https://www.asperbio.com/tag/eshg-2016/)
- [diagnostic package](https://www.asperbio.com/tag/diagnostic-package/)
- [glaucoma](https://www.asperbio.com/tag/glaucoma/)
- [retinoblastoma](https://www.asperbio.com/tag/retinoblastoma/)
- [Epilepsy](https://www.asperbio.com/tag/epilepsy/)
- [Dystonia](https://www.asperbio.com/tag/dystonia/)
- [Joubert Syndrome](https://www.asperbio.com/tag/joubert-syndrome/)
- [Neurodegeneration with Brain Iron Accumulation](https://www.asperbio.com/tag/neurodegeneration-with-brain-iron-accumulation/)
- [Rare Disease Day](https://www.asperbio.com/tag/rare-disease-day/)
- [Pulmonary Arterial Hypertension](https://www.asperbio.com/tag/pulmonary-arterial-hypertension/)
- [Jouberti sündroom](https://www.asperbio.com/et/tag/jouberti-sundroom/)
- [Ajukoe raualadestusega seotud neurodegeneratsioon](https://www.asperbio.com/et/tag/ajukoe-raualadestusega-seotud-neurodegeneratsioon/)
- [Pulmonaalhüpertensioon](https://www.asperbio.com/et/tag/pulmonaalhupertensioon/)
- [Thyroid cancer](https://www.asperbio.com/tag/thyroid-cancer/)
- [Fanconi aneemia](https://www.asperbio.com/et/tag/fanconi-aneemia/)
- [Kilpnäärmevähk](https://www.asperbio.com/et/tag/kilpnaarmevahk/)
- [WGS](https://www.asperbio.com/tag/wgs/)
- [Whole genome sequencing](https://www.asperbio.com/tag/whole-genome-sequencing/)
- [ARVD](https://www.asperbio.com/tag/arvd/)
- [ARVC](https://www.asperbio.com/tag/arvc/)
- [Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy](https://www.asperbio.com/tag/arrhythmogenic-right-ventricular-dysplasiacardiomyopathy/)
- [Thrombocytopenia](https://www.asperbio.com/tag/thrombocytopenia/)
- [CMT](https://www.asperbio.com/tag/cmt/)
- [Melanoma](https://www.asperbio.com/tag/melanoma/)
- [Melanoom](https://www.asperbio.com/et/tag/melanoom/)
- [autism spectrum disorders](https://www.asperbio.com/tag/autism-spectrum-disorders/)
- [autismi spektri häired](https://www.asperbio.com/et/tag/autismi-spektri-haired/)
- [Endocrine disorders](https://www.asperbio.com/tag/endocrine-disorders/)
- [Asper Endocrinology](https://www.asperbio.com/tag/asper-endocrinology/)
- [skeletal ciliopathy](https://www.asperbio.com/tag/skeletal-ciliopathy/)
- [short-rib thoracic dysplasia](https://www.asperbio.com/tag/short-rib-thoracic-dysplasia/)
- [cranioectodermal dysplasias](https://www.asperbio.com/tag/cranioectodermal-dysplasias/)
- [arrhythmia](https://www.asperbio.com/tag/arrhythmia/)
- [cardiomyopathy](https://www.asperbio.com/tag/cardiomyopathy/)
- [dyslipidemia](https://www.asperbio.com/tag/dyslipidemia/)
- [Metabolic disorders](https://www.asperbio.com/tag/metabolic-disorders/)
- [Next generation sequencing](https://www.asperbio.com/tag/next-generation-sequencing/)
- [NGS panel](https://www.asperbio.com/tag/ngs-panel/)
- [Whole exome sequencing](https://www.asperbio.com/tag/whole-exome-sequencing/)
- [Targeted regions sequencing](https://www.asperbio.com/tag/targeted-regions-sequencing/)
- [NGS panels](https://www.asperbio.com/tag/ngs-panels/)
- [hereditary diseases](https://www.asperbio.com/tag/hereditary-diseases/)
- [NGS testing](https://www.asperbio.com/tag/ngs-testing/)
- [ACE](https://www.asperbio.com/tag/ace/)
- [Akromatopsia](https://www.asperbio.com/et/tag/akromatopsia/)
- [macular dystrophy](https://www.asperbio.com/tag/macular-dystrophy/)
- [blindness](https://www.asperbio.com/tag/blindness/)
- [cataract](https://www.asperbio.com/tag/cataract/)
- [achromatopsia](https://www.asperbio.com/tag/achromatopsia/)
- [Congenital Myopathy](https://www.asperbio.com/tag/congenital-myopathy/)
- [Distal Myopathy](https://www.asperbio.com/tag/distal-myopathy/)
- [müopaatia](https://www.asperbio.com/et/tag/muopaatia/)
- [distaalne müopaatia](https://www.asperbio.com/et/tag/distaalne-muopaatia/)
- [NGS paneel](https://www.asperbio.com/et/tag/ngs-paneel/)
- [Leukoencephalopathy](https://www.asperbio.com/tag/leukoencephalopathy/)
- [Leukodystrophy](https://www.asperbio.com/tag/leukodystrophy/)
- [Leukodüstroofia](https://www.asperbio.com/et/tag/leukodustroofia/)
- [leukoentsefalopaatia](https://www.asperbio.com/et/tag/leukoentsefalopaatia/)
- [geenitest](https://www.asperbio.com/et/tag/geenitest/)
- [geneetiline testimine](https://www.asperbio.com/et/tag/geneetiline-testimine/)
- [Tuberous Sclerosis](https://www.asperbio.com/tag/tuberous-sclerosis/)
- [Tuberoosne skleroos](https://www.asperbio.com/et/tag/tuberoosne-skleroos/)
- [Hereditary Sideroblastic Anemia](https://www.asperbio.com/tag/hereditary-sideroblastic-anemia/)
- [Pärilik sideroblastiline aneemia](https://www.asperbio.com/et/tag/parilik-sideroblastiline-aneemia/)
- [kaasasündinud müopaatia](https://www.asperbio.com/et/tag/kaasasundinud-muopaatia/)
- [Anophthalmia](https://www.asperbio.com/tag/anophthalmia/)
- [Anterior Segment Dysgenesis](https://www.asperbio.com/tag/anterior-segment-dysgenesis/)
- [Coloboma](https://www.asperbio.com/tag/coloboma/)
- [Microphthalmia](https://www.asperbio.com/tag/microphthalmia/)
- [autosomal recessive optic atrophy](https://www.asperbio.com/tag/autosomal-recessive-optic-atrophy/)
- [optiline atroofia](https://www.asperbio.com/et/tag/optiline-atroofia/)
- [autosoom dominantne optiline atroofia](https://www.asperbio.com/et/tag/autosoom-dominantne-optiline-atroofia/)
- [autosoom retsessiivne optiline atroofia](https://www.asperbio.com/et/tag/autosoom-retsessiivne-optiline-atroofia/)
- [Del/dup analysis](https://www.asperbio.com/tag/del-dup-analysis/)
- [MLPA](https://www.asperbio.com/tag/mlpa/)
- [PAX6 gene](https://www.asperbio.com/tag/pax6-gene/)
- [Sanger sequencing](https://www.asperbio.com/tag/sanger-sequencing/)
- [Aniridia](https://www.asperbio.com/tag/aniridia/)
- [PAX2 gene](https://www.asperbio.com/tag/pax2-gene/)
- [Papillorenal Syndrome](https://www.asperbio.com/tag/papillorenal-syndrome/)
- [RB1 gene](https://www.asperbio.com/tag/rb1-gene/)
- [Vitreoretinopathy](https://www.asperbio.com/tag/vitreoretinopathy/)
- [RS1 gene](https://www.asperbio.com/tag/rs1-gene/)
- [hereditary cancer syndromes](https://www.asperbio.com/tag/hereditary-cancer-syndromes/)
- [MUTYH-associated polyposis](https://www.asperbio.com/tag/mutyh-associated-polyposis/)
- [BMPR1A-related juvenile polyposis](https://www.asperbio.com/tag/bmpr1a-related-juvenile-polyposis/)
- [SMAD4-related juvenile polyposis](https://www.asperbio.com/tag/smad4-related-juvenile-polyposis/)
- [PTEN hamartoma tumor syndrome](https://www.asperbio.com/tag/pten-hamartoma-tumor-syndrome/)
- [Peutz-Jeghers syndrome](https://www.asperbio.com/tag/peutz-jeghers-syndrome/)
- [Brugada Syndrome](https://www.asperbio.com/tag/brugada-syndrome/)
- [Dilated Cardiomyopathy](https://www.asperbio.com/tag/dilated-cardiomyopathy/)
- [LDLR](https://www.asperbio.com/tag/ldlr/)
- [Familial Lipoprotein Lipase Deficiency](https://www.asperbio.com/tag/familial-lipoprotein-lipase-deficiency/)
- [LPL gene](https://www.asperbio.com/tag/lpl-gene/)
- [Familial Thoracic Aortic Aneurysm and Dissection](https://www.asperbio.com/tag/familial-thoracic-aortic-aneurysm-and-dissection/)
- [Marfan syndrome](https://www.asperbio.com/tag/marfan-syndrome/)
- [Loeys-Dietz syndrome](https://www.asperbio.com/tag/loeys-dietz-syndrome/)
- [Ehlers-Danlos syndrome](https://www.asperbio.com/tag/ehlers-danlos-syndrome/)
- [Familial TAAD](https://www.asperbio.com/tag/familial-taad/)
- [left ventricular hypertrophy](https://www.asperbio.com/tag/left-ventricular-hypertrophy/)
- [Long QT Syndrome](https://www.asperbio.com/tag/long-qt-syndrome/)
- [prolonged QT-interval](https://www.asperbio.com/tag/prolonged-qt-interval/)
- [Waardenburg Syndrome](https://www.asperbio.com/tag/waardenburg-syndrome/)
- [Alport Syndrome](https://www.asperbio.com/tag/alport-syndrome/)
- [Branchiootorenal Syndrome](https://www.asperbio.com/tag/branchiootorenal-syndrome/)
- [Apolipoprotein C-II Deficiency](https://www.asperbio.com/tag/apolipoprotein-c-ii-deficiency/)
- [Sequencing of the APOC2 gene](https://www.asperbio.com/tag/sequencing-of-the-apoc2-gene/)
- [Hyperlipoproteinemia](https://www.asperbio.com/tag/hyperlipoproteinemia/)
- [type 5](https://www.asperbio.com/tag/type-5/)
- [Sequencing of the APOA5 gene](https://www.asperbio.com/tag/sequencing-of-the-apoa5-gene/)
- [Lecithin Cholesterol Acyltransferase Deficiency](https://www.asperbio.com/tag/lecithin-cholesterol-acyltransferase-deficiency/)
- [Sequencing of the LCAT gene](https://www.asperbio.com/tag/sequencing-of-the-lcat-gene/)
- [Tangier Disease](https://www.asperbio.com/tag/tangier-disease/)
- [Sequencing of the ABCA1 gene](https://www.asperbio.com/tag/sequencing-of-the-abca1-gene/)
- [SLC26A4 gene](https://www.asperbio.com/tag/slc26a4-gene/)
- [Stickler Syndrome](https://www.asperbio.com/tag/stickler-syndrome/)
- [Treacher Collins Syndrome](https://www.asperbio.com/tag/treacher-collins-syndrome/)
- [Sequencing of the GJB2 gene](https://www.asperbio.com/tag/sequencing-of-the-gjb2-gene/)
- [Cornelia de Lange Syndrome](https://www.asperbio.com/tag/cornelia-de-lange-syndrome/)
- [encephalopathic epilepsy](https://www.asperbio.com/tag/encephalopathic-epilepsy/)
- [juvenile myoclonic epilepsy](https://www.asperbio.com/tag/juvenile-myoclonic-epilepsy/)
- [childhood absence epilepsy](https://www.asperbio.com/tag/childhood-absence-epilepsy/)
- [temporal lobe epilepsy](https://www.asperbio.com/tag/temporal-lobe-epilepsy/)
- [autosomal dominant nocturnal frontal lobe epilepsy](https://www.asperbio.com/tag/autosomal-dominant-nocturnal-frontal-lobe-epilepsy/)
- [autosomal dominant epilepsy](https://www.asperbio.com/tag/autosomal-dominant-epilepsy/)
- [Epileptic encephalopathies](https://www.asperbio.com/tag/epileptic-encephalopathies/)
- [Frontotemporal Dementia](https://www.asperbio.com/tag/frontotemporal-dementia/)
- [Limb-Girdle Muscular Dystrophy](https://www.asperbio.com/tag/limb-girdle-muscular-dystrophy/)
- [Parkinson disease](https://www.asperbio.com/tag/parkinson-disease/)
- [ATP7B gene](https://www.asperbio.com/tag/atp7b-gene/)
- [TWIST1 gene](https://www.asperbio.com/tag/twist1-gene/)
- [Alpha Thalassemia](https://www.asperbio.com/tag/alpha-thalassemia/)
- [Androgen Insensitivity Syndrome](https://www.asperbio.com/tag/androgen-insensitivity-syndrome/)
- [AR gene](https://www.asperbio.com/tag/ar-gene/)
- [Combined Pituitary Hormone Deficiency](https://www.asperbio.com/tag/combined-pituitary-hormone-deficiency/)
- [Familial Hypocalciuric Hypercalcemia](https://www.asperbio.com/tag/familial-hypocalciuric-hypercalcemia/)
- [CASR gene](https://www.asperbio.com/tag/casr-gene/)
- [Hypothyroidism and Thyroid Hormone Resistance](https://www.asperbio.com/tag/hypothyroidism-and-thyroid-hormone-resistance/)
- [Thyroid Dyshormonogenesis](https://www.asperbio.com/tag/thyroid-dyshormonogenesis/)
- [Fatty Acid Oxidation Disorder](https://www.asperbio.com/tag/fatty-acid-oxidation-disorder/)
- [Lysosomal Storage Disease](https://www.asperbio.com/tag/lysosomal-storage-disease/)
- [Methylmalonic Aciduria and Homocystinuria](https://www.asperbio.com/tag/methylmalonic-aciduria-and-homocystinuria/)
- [Porphyria](https://www.asperbio.com/tag/porphyria/)
- [Urea Cycle Disorder](https://www.asperbio.com/tag/urea-cycle-disorder/)
- [Hemochromatosis](https://www.asperbio.com/tag/hemochromatosis/)
- [Oculocutaneous Albinism](https://www.asperbio.com/tag/oculocutaneous-albinism/)
- [Ocular Albinism](https://www.asperbio.com/tag/ocular-albinism/)
- [Hermansky-Pudlak Syndrome](https://www.asperbio.com/tag/hermansky-pudlak-syndrome/)
- [Chediak-Higashi Syndrome](https://www.asperbio.com/tag/chediak-higashi-syndrome/)
- [European Academy of Neurology](https://www.asperbio.com/tag/european-academy-of-neurology/)
- [EAN Congress 2018](https://www.asperbio.com/tag/ean-congress-2018/)
- [Microcephaly](https://www.asperbio.com/tag/microcephaly/)
- [Brain malformations](https://www.asperbio.com/tag/brain-malformations/)
- [Cancer Predisposition](https://www.asperbio.com/tag/cancer-predisposition/)
- [Päriliku vähi eelsoodumuse test](https://www.asperbio.com/et/tag/pariliku-vahi-eelsoodumuse-test/)
- [Metabolic Myopathy](https://www.asperbio.com/tag/metabolic-myopathy/)
- [Rhabdomyolysis](https://www.asperbio.com/tag/rhabdomyolysis/)
- [Methylmalonic Aciduria](https://www.asperbio.com/tag/methylmalonic-aciduria/)
- [Homocystinuria](https://www.asperbio.com/tag/homocystinuria/)
- [Metaboolne müopaatia](https://www.asperbio.com/et/tag/metaboolne-muopaatia/)
- [rabdomüolüüs](https://www.asperbio.com/et/tag/rabdomuoluus/)
- [Hüpertroofiline kardiomüopaatia](https://www.asperbio.com/et/tag/hupertroofiline-kardiomuopaatia/)
- [geenipaneel](https://www.asperbio.com/et/tag/geenipaneel/)
- [Parkinson’s Disease](https://www.asperbio.com/tag/parkinsons-disease/)
- [Parkinsoni tõbi](https://www.asperbio.com/et/tag/parkinsoni-tobi/)
- [Senior-Loken Syndrome](https://www.asperbio.com/tag/senior-loken-syndrome/)
- [DNA test](https://www.asperbio.com/tag/dna-test/)
- [Asper Biotech news](https://www.asperbio.com/tag/asper-biotech-news/)
- [cardiology](https://www.asperbio.com/tag/cardiology/)
- [Kolvikeste-kepikeste düstroofia](https://www.asperbio.com/et/tag/kolvikeste-kepikeste-dustroofia/)
- [vitelliformne maakuli düstroofia](https://www.asperbio.com/et/tag/vitelliformne-maakuli-dustroofia/)
- [Senior-Loken sündroom](https://www.asperbio.com/et/tag/senior-loken-sundroom/)
- [WES](https://www.asperbio.com/tag/wes/)
- [Primary Ciliary Dyskinesia](https://www.asperbio.com/tag/primary-ciliary-dyskinesia/)
- [Primaarne tsiliaarne düskineesia](https://www.asperbio.com/et/tag/primaarne-tsiliaarne-duskineesia/)
- [Osteogenesis Imperfecta](https://www.asperbio.com/tag/osteogenesis-imperfecta/)
- [Ebatäiuslik luuteke](https://www.asperbio.com/et/tag/ebataiuslik-luuteke/)
- [Frazer Syndrome](https://www.asperbio.com/tag/frazer-syndrome/)
- [Von Hippel-Lindau Disease](https://www.asperbio.com/tag/von-hippel-lindau-disease/)
- [Von Hippel-Lindau sündroom](https://www.asperbio.com/et/tag/von-hippel-lindau-sundroom/)
- [Coagulation Disorders](https://www.asperbio.com/tag/coagulation-disorders/)
- [Congenital Myasthenic Syndrome](https://www.asperbio.com/tag/congenital-myasthenic-syndrome/)
- [Koagulatsiooni häired](https://www.asperbio.com/et/tag/koagulatsiooni-haired/)
- [Kaasasündinud müasteeniline sündroom](https://www.asperbio.com/et/tag/kaasasundinud-muasteeniline-sundroom/)
- [Asper Dermatology](https://www.asperbio.com/tag/asper-dermatology/)
- [Cutis laxa](https://www.asperbio.com/tag/cutis-laxa/)
- [Epidermolysis Bullosa](https://www.asperbio.com/tag/epidermolysis-bullosa/)
- [Hypotrichosis](https://www.asperbio.com/tag/hypotrichosis/)
- [Ichthyosis](https://www.asperbio.com/tag/ichthyosis/)
- [neurofibromatosis](https://www.asperbio.com/tag/neurofibromatosis/)
- [Palmoplantar Keratoderma](https://www.asperbio.com/tag/palmoplantar-keratoderma/)
- [VHL gene](https://www.asperbio.com/tag/vhl-gene/)
- [Ectopia Lentis](https://www.asperbio.com/tag/ectopia-lentis/)
- [Prostate cancer](https://www.asperbio.com/tag/prostate-cancer/)
- [Hereditary Hemorrhagic Telangiectasia](https://www.asperbio.com/tag/hereditary-hemorrhagic-telangiectasia/)
- [CNV analysis](https://www.asperbio.com/tag/cnv-analysis/)
- [Noonan Spectrum Disorders/Rasopathies](https://www.asperbio.com/tag/noonan-spectrum-disorders-rasopathies/)
- [Brunner syndrome](https://www.asperbio.com/tag/brunner-syndrome/)
- [Asper Nephrology](https://www.asperbio.com/tag/asper-nephrology/)
- [Ciliopathy](https://www.asperbio.com/tag/ciliopathy/)
- [Hemolytic Uremic Syndrome](https://www.asperbio.com/tag/hemolytic-uremic-syndrome/)
- [Nephronophthisis](https://www.asperbio.com/tag/nephronophthisis/)
- [Nephrotic Syndrome](https://www.asperbio.com/tag/nephrotic-syndrome/)
- [Polycystic Kidney Disease](https://www.asperbio.com/tag/polycystic-kidney-disease/)
- [Osteogenesis Imperfecta](https://www.asperbio.com/et/tag/osteogenesis-imperfecta-et/)
- [Kallmann syndrome](https://www.asperbio.com/tag/kallmann-syndrome/)
- [Congenital Disorders of Glycolysation](https://www.asperbio.com/tag/congenital-disorders-of-glycolysation/)
- [Malignant Hyperthermia](https://www.asperbio.com/tag/malignant-hyperthermia/)
- [Paroxysmal Dyskinesia](https://www.asperbio.com/tag/paroxysmal-dyskinesia/)
- [List of diseases covered by Paroxysmal Dyskinesia](https://www.asperbio.com/tag/list-of-diseases-covered-by-paroxysmal-dyskinesia/)
- [non-coding variants](https://www.asperbio.com/tag/non-coding-variants/)
- [Female Infertility](https://www.asperbio.com/tag/female-infertility/)
- [Familial Hemiplegic Migraine](https://www.asperbio.com/tag/familial-hemiplegic-migraine/)
- [Hypomagnesemia](https://www.asperbio.com/tag/hypomagnesemia/)
- [Congenital Adrenal Hyperplasia](https://www.asperbio.com/tag/congenital-adrenal-hyperplasia/)
- [CAH](https://www.asperbio.com/tag/cah/)
- [Congenital Fibrosis of Extraocular Muscles](https://www.asperbio.com/tag/congenital-fibrosis-of-extraocular-muscles/)
- [Kongenitaalne okulaarne fibroos](https://www.asperbio.com/et/tag/kongenitaalne-okulaarne-fibroos/)
- [Charcot-Marie-Tooth](https://www.asperbio.com/tag/charcot-marie-tooth/)
- [Left Ventricular Noncompaction Cardiomyopathy](https://www.asperbio.com/tag/left-ventricular-noncompaction-cardiomyopathy/)
- [Congenital Muscular Dystrophy](https://www.asperbio.com/tag/congenital-muscular-dystrophy/)
- [pharmacogenetics](https://www.asperbio.com/tag/pharmacogenetics/)
- [pharmacogenomics](https://www.asperbio.com/tag/pharmacogenomics/)
- [antidepressants](https://www.asperbio.com/tag/antidepressants/)
- [cpic](https://www.asperbio.com/tag/cpic/)
- [Thrombophilia](https://www.asperbio.com/tag/thrombophilia/)
- [contraceptives](https://www.asperbio.com/tag/contraceptives/)
- [hyperinsulinism](https://www.asperbio.com/tag/hyperinsulinism/)
- [immunogenetics](https://www.asperbio.com/tag/immunogenetics/)

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