List of diseases covered by Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis

List of diseases covered by
Anophthalmia/Microphthalmia/Coloboma/
Anterior Segment Dysgenesis NGS panel

Gene Condition
ABCB6 Microphthalmia, isolated, with coloboma 7
ALDH1A3 Microphthalmia, isolated 8
ASPH Facial dysmorphism, lens dislocation,
anterior segment abnormalities, and spontaneous filtering blebs
BCOR Oculofaciocardiodental syndrome
B3GLCT Peters plus syndrome
BMP4 Microphthalmia syndromic 6
CHD7 CHARGE association
COL4A1 Brain small vessel disease with hemorrhage
CYP1B1 Anterior segment dysgenesis 6
EYA1 Anterior segment anomalies with or without cataract
FOXC1 Anterior segment dysgenesis 3
FOXE3 Aphakia, congenital primary
GDF3 Microphthalmia, isolated 7; Microphthalmia, isolated, with coloboma 6
GDF6 Microphthalmia, isolated 4
HCCS Linear skin defects with multiple congenital anomalies 1
HESX1 Septo-optic dysplasia sequence
HMGB3 Microphthalmia, syndromic 13
LTBP2 Microspherophakia
MAB21L2 Microphthalmia/coloboma and skeletal dysplasia syndrome
MFRP Microphthalmia, isolated 5
OTX2 Microphthalmia syndromic 5
PAX6 Optic nerve hypoplasia, bilateral
PITX2 Iridogoniodysgenesis, dominant type
PRSS56 Microphthalmia, isolated 6
RARB Microphthalmia, syndromic 12
RAX Microphthalmia, isolated 3
SIX6 Optic disc anomalies with retinal and/or macular dystrophy
SLC38A8 Foveal hypoplasia 2
SMOC1 Microphthalmia with limb anomalies
SOX2 Microphthalmia, syndromic 3
STRA6 Microphthalmia syndromic 9
TENM3 Microphthalmia, isolated, with coloboma 9
VAX1 Microphthalmia, syndromic 11
VSX1 Craniofacial anomalies and anterior segment dysgenesis syndrome
VSX2 Microphthalmia, isolated 2; Microphthalmia, isolated, with coloboma 3

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.

15 years in genetics − 15% discount for NextGen

Asper Biotech is celebrating its 15th year in genetic testing. Since founding in 1999 it has seen great development in understanding the changes in human genes from sophisticated science projects to the everyday use of genetic data. 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. Just contact info[at]asperbio.com for more information.

Whole exome sequencing for just 890 Euros

Asper Biotech is offering whole exome sequencing at introductory price of 890 Euros providing average coverage of 50x per exome.

As the summer is approaching it is now a good time to collect samples for sequencing with excellent quality and low-cost. The call for sample shipment starts today and lasts till the 31st of August.

Technical details:

  • Price 890 Euros per sample
  • 50x coverage
  • Annotated VCF file
  • Target region size 37 Mb
  • Number of target exons 201 121
  • Final day for the shipment 31st of August
  • TAT 13 weeks

Just place the samples in the envelope, include the filled form and send to
Asper Biotech
Vaksali 17a
Tartu 50410
Estonia
Ph: +372 7307 295

PS. Please note that although diagnostic package is also included to the form the stated price is for genotyping service only.

Genetic tests

Asper Ophthalmics

Achromatopsia
Age-Related Macular Degeneration
Aniridia
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis
Autosomal Dominant Retinitis Pigmentosa
Autosomal Recessive Retinitis Pigmentosa
Bardet Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson-Forssman-Lehmann Syndrome, Alström Syndrome, Albright Hereditary Osteodystrophy
Cataract
Choroideremia
Cone-Rod Dystrophy
Congenital Stationary Night Blindness
Corneal Dystrophy
Glaucoma
Leber Congenital Amaurosis
Leber Hereditary Optic Neuropathy
Norrie Disease
Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome
Optic Atrophy
Papillorenal Syndrome
Retinoblastoma
Senior-Loken Syndrome
Stargardt Disease
Usher Syndrome
Vitelliform Macular Dystrophy
Vitreoretinopathy
X-Linked Retinitis Pigmentosa (RPGR ORF15 included)
X-Linked Retinoschisis
Eye Diseases NGS panel of 283 genes
Whole Exome Sequencing

Asper Reprogenetics

Ashkenazi Jewish Diseases
Carriership Testing
Cystic Fibrosis
Folate-Dependent Neural Tube Defects
Fragile X Syndrome
Male Factor Infertility
Maternal Cell Contamination
Whole Exome Sequencing

Asper Oncogenetics

Breast and Ovarian Cancer
Cancer Predisposition
Familial Adenomatous Polyposis
Fanconi Anemia
Lynch Syndrome/Hereditary Non-Polyposis Colon Cancer
Melanoma
Microsatellite instability
MUTYH-associated polyposis
Nijmegen Breakage Syndrome
Polyposis Syndromes
Thyroid Cancer
Whole Exome Sequencing

Asper Cardiogenetics

Apolipoprotein C-II Deficiency
Arrhythmia
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy
Brugada Syndrome
Catecholaminergic Polymorphic Ventricular Tachycardia
Dilated Cardiomyopathy
Ehlers-Danlos Syndrome
Familial Hypercholesterolemia
Familial Lipoprotein Lipase Deficiency
Familial Thoracic Aortic Aneurysms and Dissections and Related Syndromes
Hyperlipoproteinemia, type 3
Hyperlipoproteinemia, type 5
Hypertriglyceridemia
Hypertrophic Cardiomyopathy
Lecithin Cholesterol Acyltransferase Deficiency
Long QT Syndrome
Noonan Syndrome
Pulmonary Arterial Hypertension
Short QT Syndrome
Statin-Induced Myopathy
Tangier Disease
Thrombophilia
Whole Exome Sequencing

Asper Neurogenetics

Amyotrophic Lateral Sclerosis
Autism Spectrum Disorders
Charcot-Marie-Tooth Disease
Congenital Myopathy and Distal Myopathy
Cornelia de Lange Syndrome
Craniosynostosis
Dystonia
Fragile X Syndrome
Frontotemporal Dementia
Epilepsy
Hereditary Spastic Paraplegia
Joubert Syndrome
Leukodystrophy and Leukoencephalopathy
Limb-Girdle Muscular Dystrophy
Menkes Disease
Microcephaly
Mitochondrial Diseases
Neurodegeneration with Brain Iron Accumulation
Parkinson’s Disease
Smith-Lemli-Opitz Syndrome
Spinocerebellar Ataxia
Tuberous Sclerosis
Wilson Disease

Whole Exome Sequencing

Asper Otogenetics

Alport Syndrome
Aminoglycoside-Induced Deafness
Branchiootorenal Syndrome
Jervell and Lange-Nielson Syndrome
Pendred Syndrome
Sensorineural Hearing Loss
Stickler Syndrome
Treacher Collins Syndrome
Usher Syndrome
Waardenburg Syndrome
Zellweger Spectrum Disorders
Whole Exome Sequencing

Asper Hematology

Alpha Thalassemia
Beta Thalassemia
Fanconi Anemia
Hereditary Sideroblastic Anemia
Thrombocytopenia
Whole Exome Sequencing

Asper Dysmorphology

Brain malformations
Craniosynostosis
Microcephaly
Noonan Syndrome
Skeletal Ciliopathies
Skeletal Dysplasia
Smith-Lemli-Opitz Syndrome
Whole Exome Sequencing

Asper Endocrinology

Androgen Insensitivity Syndrome
Combined Pituitary Hormone Deficiency
Familial Hypocalciuric Hypercalcemia
Hypothyroidism and Thyroid Hormone Resistance
Maturity Onset Diabetes of the Young (MODY)
Thyroid Dyshormonogenesis
Whole Exome Sequencing

Asper Metabolic Disorders

Citrin Deficiency
Citrullinemia, type 1
Fatty Acid Oxidation Disorder
Glutaric Aciduria, type 1
Glutaric Aciduria, type 2
Glycogen Storage Disease
Hemochromatosis
Lysosomal Storage Disease
Metabolic Myopathy and Rhabdomyolysis
Methylmalonic Aciduria and Homocystinuria
Porphyria
Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency
Smith Lemli Opitz Syndrome
Urea Cycle Disorder
Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
Whole Exome Sequencing

Company profile

Genetic testing company Asper Biotech has been acquired by Asper Biogene LLC and hereafter will be operating under the name of Asper Biogene. The deal was concluded in July 2017 to enhance the testing services and expand into new markets. The company is maintaining its focus on diagnostics for rare and common hereditary diseases.

In 19 years our testing menu has become one of the most comprehensive in the clinical diagnostics field. Starting with tests for eye diseases, we have broadened the testing scope, which now encompasses to neurological, cardiological, oncological, hematological etc. areas. Besides our best-known portfolio – Asper Ophthalmics seven new testing portfolios have been launched. As our aim is to provide flexible and customer-friendly services, our clients are always encouraged to ask for customized tests and testing solutions.

Our laboratory is an authorized medical laboratory, CLIA (#99D2046227), ISO 15189:2012, and ISO 9001:2015 certified. We are participating in the European Molecular Genetics Quality Network (EMQN) quality assessment schemes in order to deliver genetic services at the highest level of quality standards.

Our clients, including leading university hospitals, private clinics, commercial laboratories and research organisations are from more than 40 countries. Development and elaboration of new tests are continuous processes in our daily practice to meet the customers’ needs and provide testing services to more patients and healthcare providers. We are also offering custom-test development with complete workflow and full customer support.

Besides providing genetic diagnostic services, we are an appreciated scientific partner for many international R&D projects due to our innovation-driven approach and long-lasting experience. We have had successful collaboration with different funding agencies supporting R&D activities, which have led to technological improvements and moreover to state-of-the-art genetic tests. Our expertise is widely recognized by participation in numerous European-wide research projects where we have been incorporated as an essential partner.

About Asper Biotech

Asper Biotech was established in 1999 as a spin-off of a research organization called the Estonian Biocentre. Since then Asper Biotech quickly became a leading Estonian biotechnology exporter due to its extensive services and the quality of the results.

Contacts

General contacts

Asper Biogene LLC
Vaksali 17a, 50410
Tartu, Estonia
info[at]asperbio.com
www.asperbio.com
Tel  +372 7307 295
Fax +372 7307 298Asper Biogene Customer Service
Contact us:

Your Name (required)

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Subject

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Asper Ophthalmics

Asper Ophthalmics

Pricing

Achromatopsia
Age-Related Macular Degeneration
Aniridia
Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis
Autosomal Dominant Retinitis Pigmentosa
Autosomal Recessive Retinitis Pigmentosa
Bardet Biedl Syndrome, McKusick-Kaufman Syndrome, Borjeson-Forssman-Lehmann Syndrome, Alström Syndrome, Albright Hereditary Osteodystrophy
Cataract
Choroideremia
Cone-Rod Dystrophy
Congenital Stationary Night Blindness
Corneal Dystrophy
Glaucoma
Leber Congenital Amaurosis
Leber Hereditary Optic Neuropathy

Norrie Disease
Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome
Optic Atrophy
Papillorenal Syndrome
Retinoblastoma
Senior-Loken Syndrome
Stargardt Disease
Usher Syndrome
Vitelliform Macular Dystrophy
Vitreoretinopathy
X-Linked Retinitis Pigmentosa (RPGR ORF15 included)
X-Linked Retinoschisis
Eye Diseases NGS panel of 283 genes
Whole Exome Sequencing

EMQN Certificate of Participation

Asper Ophthalmics is a comprehensive collection of genetic tests targeted at the diagnostics of a wide variety of hereditary ocular disorders, including retinal disorders, corneal dystrophies, and age related ophthalmic conditions.

Our genetic tests assist clinicians in confirming diagnoses and informing patients about their risks for inherited eye diseases.