Whole Genome Sequencing

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 interpretation of analysis results contribute substantially to diagnosing complex diseases or diseases with atypical phenotype.

Service details are available http://www.asperbio.com/ngs-service/

Asper Biotech 18 years

As Asper Biotech is turning 18 today we would like to thank all our loyal customers and partners for being part of this journey and for supporting us over the years. Though celebrating the anniversary we are still keeping busy with upgrading the testing portfolios. 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.

Rare Disease Day

Today is Rare Disease Day. Over 90 countries worldwide are participating in different events to raise more awareness for rare diseases. Asper Biotech’s representative is attending a roundtable discussion at the Parliament of Estonia about possibilities and challenges within the rare disorders research, provision of medical care and services.

PREDICTION-ADR Consortium Meeting

PREDICTION-ADR project close-out meeting was held this week in Tallinn. The meeting was very presentable involving participants from different European countries.

The aim of the PREDICTION-ADR study was to discover the genetic factors predisposing patients to adverse drug reactions from cardiovascular disease drugs. The meeting wrapped up achievements of the project funded by the European Commission. New prospectives for further collaboration of consortium members were considered as well.

The event ended up with an inspiring visit to historical Tallinn Town Hall, the oldest in Scandinavia.

Clinical interpretation of your genetic data

We set about to provide bioinformatic analysis and interpretation of your genetic data. Our highly qualified geneticists are analyzing and interpreting your sequencing data, deletion/duplication analysis results etc.

Our thorough clinical interpretation includes phenotypic and clinical information evaluation; careful classification of variants based on population frequency, variant databases, in-silico prediction models and conservation scores; as well as recommendations for further testing strategies if necessary. Identified findings are reported according to the American College of Medical Genetics and Genomics (ACMG 2015) recommendations.

Ask customized solution from our experienced team to facilitate your clinical practice.

Expanded Dystonia Panel

We have improved our Dystonia NGS panel with 29 genes, the new upgraded version now includes 39 genes related to different types of dystonia and syndromes with clinical features of dystonia. New genes added to the panel are associated with dystonia types 2, 3, 4, 11, 23, 24, 25, 26, 27, and disorders such as hypermanganesemia, glutaric aciduria, familial dyskinesia with facial myokymia, neurodegeneration with brain iron accumulation, and others. Full list of the genes covered by the panel is available http://www.asperbio.com/asper-neurogenetics/dystonia/dystonia-ngs-panel/

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. We will be presenting several new tests and services at the exhibition.

To benefit more from our thorough results reports, we’d like to make an excellent offer for our current and new customers. Our diagnostic package service that includes detailed medical interpretation is available with the price of genotyping service for all NGS panels ordered from the beginning of May to the end of June. So, don’t miss to call on our booth to learn more about the new gene panels and services, and let us know how we can improve.

New NGS panels in Asper Neurogenetics portfolio

Frontotemporal dementiaParkinson disease and dystonia gene panels are now listed in the neurogenetics testing menu. Asper Neurogenetics is our fast growing portfolio and most lately added tests have been implemented at the initiative of our customers. We are continually open for your comments and suggestions on new testing panels.

17 years in genetics

Today Asper Biotech is celebrating it’s 17th year in the field of genetics. We started with offering genetic tests for the diagnostics of inherited eye diseases, and now we have  branched out into other specialties as oncology, cardiology, and neurology. Our testing services are constantly expanding to provide valuable and flexible diagnostic solutions to our clients’ practices. We’d like to thank our customers and partners for long-time trust, support and partnership. We’ll keep our tests up-to-date and standards high.

Hypertrophic Cardiomyopathy panel now available

New NGS panel enables analysis of 28 genes known to be associated with hypertrophic cardiomyopathy. The testing panel helps clinicians to identify causative mutations in families meeting diagnostic criteria, and also provides assistance in making differential diagnosis to distinguish hypertrophic cardiomyopathy from other cardiac conditions. Details of the test at http://www.asperbio.com/asper-cardiogenetics/hypertrophic-cardiomyopathy.

Asper Neurogenetics new panels

We have upgraded our Asper Neurogenetics testing menu with several new gene panels for diagnostics of different forms of craniosynostosis, hereditary spastic paraplegia, and  spinocerebellar ataxia.

Craniosynostosis panel includes 7 genes, hereditary spastic paraplegia 34 genes and spinocerebellar ataxia 68 genes. For hereditary spastic paraplegia there is also the targeted mutation analysis of the MT-ATP6 gene available. New testing panels provide valuable input to determine differential diagnosis of the diseases with neurological involvement.

Genetic consultation

We are offering pre- and post-test genetic consultation (60 €) to referring physicians and health-care professionals. Our medical geneticists are available by email/phone/Skype to provide support in making decisions between different testing possibilities and discussing test results in order to employ a wide range of molecular diagnostics approaches. Contact info@nullasperbio.com to register for consultation.

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. Genotyping service TAT is 3-6 weeks, diagnostic package with clinical interpretation is available in 6-9 weeks. Additionally, Sanger sequencing and microarray-based analyses are also performed with shorter time, being ready in 2-4 weeks.

PREDICTION-ADR plenary meeting

The second plenary meeting of the PREDICTION-ADR consortium was held in Uppsala, September 15 and 16, 2015.

On the first day of meeting, the recruitment of patients to both the statin-induced myopathy and the angiotensin-converting 
inhibitor-induced
angioedema arms studies, was discussed. Recruitment of both discovery cohorts has been completed and the focus is now on final recruitment of patients for the replication cohorts.

On day 2 the focus was on sequencing harmonization studies carried out in preparation for sequencing DNA samples in the main studies. Studies at the Universities of Dundee, Liverpool and Uppsala showed very consistent data between all three centers. This means that everything is now ready for sequencing the samples in the principal PREDICTION-ADR studies, which is due to begin.

Prediction-ADR aims to discover the genetic factors predisposing patients to adverse drug reactions from cardiovascular disease drugs. The project has received funding from the European Union’s Seventh Framework Program for research, technological development and demonstration under grant agreement no 602108.

For further information see Prediction-ADR-Newsletter

CTCTrap meeting

Progress meeting of the CTCTrap (Circulating Tumor Cells TheRapeutic APheresis) consortium was held in Tallinn, 8-9 Sept. On the first day results of phenotypical characterization and molecular profiling of CTCs were discussed. Talks on project milestones for final year took place next day. The final year sees validation of CTCapheresis for clinical use.

CTCTrap aims to develop safe and effective equipment to collect CTCs from peripheral blood in cancer patients for the molecular characterization of these cells for better diagnostic and treatment options. Furthermore the results of the project provide a new knowledge on metastasis’ mechanism, risk assessment and the optimal therapy choice during the course of the disease of cancer patients.

The CTCTrap consortium consists of 4 Small & Medium Enterprises (SME) and 7 academic institutions and is funded through FP7 health. 2012.1.2-1 #305341.

For further information see CTCTrap newsletter.

Asper Otogenetics

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

We are glad to launch several new testing portfolios – Asper Cardiogenetics, Asper Neurogenetics, and Asper Wellness. Asper Cardiogenetics covers genetic tests related to cardiovascular diseases, including Long QT syndrome, Marfan syndrome, Noonan syndrome, as well as tests for prediction of adverse drug reactions. Asper Neurogenetics includes genetic tests for the diagnostics of diseases with neurologic and metabolic involvement.

Tests for determining disease risks, food intolerance, and athletic performance can be found in Asper Wellness portfolio.

Genetic conditions assembled in new testing menus are detectable mainly by multi-gene panels, but single gene testing and targeted mutation analysis are also available.

Asper Biotech at ESHG 2015

Visit Asper Biotech at ESHG 2015 (stand #644) in Glasgow, June 6-9. We are about to launch several new testing portfolios, targeting to cardiac disorders, neurological diseases and hereditary hearing loss related syndromes. Come talk to us about testing approaches that would be useful to your clinical practice, and check out our new tests.

We are looking forward to meeting you in Glasgow!

Expanded AMD panel

We have expanded AMD testing panel with 11 new genes. The updated next generation sequencing panel now comprises 21 genes (ABCA4, ARMS2, C2, C3, C9, CCR3, CFB, CFH, CFI, CST3, CXCL8, CX3CR1, ERCC6, FBLN5, HMCN1, HTRA1, IL6, IL1A, NLRP3, RAX2, TLR4) associated with AMD. Targeted mutation analysis is also available.

Updated Noonan Syndrome Panel

We have added six new genes (CBL, HRAS, KAT6B, MAP2K2, SHOC2, SPRED1) to the Noonan syndrome NGS panel. Now the panel includes 13 genes associated with Noonan syndrome and Noonan spectrum disorders.

Charcot-Marie-Tooth Disease and Menkes Disease tests now available

As we highly appreciate our customers’ feedback on our services, we have added two new tests to the testing menu based on the results of the resent customer survey. The Charcot-Marie-Tooth Disease test uses massively parallel sequencing to analyze as many as 30 disease-associated genes. This approach allows distinguishing various forms of the disease and therefore preventing serial single gene testing. Deletion/duplication analysis of the PMP22 gene in the 17p11.2-12 region is also available. The duplications in this region could account for approximately 75 % of cases.

For Menkes disease testing we use Sanger sequencing to detect disease-causing mutations in the ATP7A gene.

Updated Stargardt disease APEX panel

Stargardt Disease APEX micoarray now detects 647 mutations in ABCA4 gene.

NGS panel including ABCA4, CNGB3, ELOVL4, and PROM1 genes is also available for Stargardt disease diagnostics.

Expanded NGS panels

Usher syndrome NGS panel now includes 20 genes – ABHD12, CDH23, CIB2, CLRN1, COL4A6, DFNB31, DSPP, GIPC3, GPR98, HARS, KARS, LHFPL5, LOXHD1, MYO7A, PCDH15, PDZD7, TNC, USH2A, USH1C, and USH1G. Leber congenital amaurosis test has also been expanded to 20 genes – AIPL1, CABP4, CEP290, CRB1, CRX, GDF6, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, OTX2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, and TULP1. Skeletal dysplasia testing panel has been updated with two new genes – TRIP11 and WNT5A.

Shorter TAT for NGS gene panels

We are pleased to inform you that to allow more rapid diagnosis and counseling of patients we have started to provide NGS service with considerably shorter turnaround time. From now on TAT is 8 weeks for genotyping and 12 weeks for diagnostic package service for all NGS panels.

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 induced myopathy. Sequencing harmonisation and protocol for the uniform targeting of exome sequencing to be used for the main study were also discussed.

Learn more from the link below:

http://www.asperbio.com/wp-content/uploads/PREDICTION-ADR_Newsletter_1.pdf

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.

ISO 15189:2008 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.

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, 31 May-3 June. Step in, learn more about the tests and get acquainted with our experienced staff at the MiCo exhibition hall, booth no 242!