Optic Atrophy

Published 22/04/2010

Optic Atrophy
NGS panel

Genes
(full coding
region):		 OPA1, OPA3, TMEM126A
Lab method: NGS panel with CNV analysis
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 no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Targeted regions sequencing

Genes (targeted regions): OPA1
Lab method: Next generation sequencing
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 a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis of the OPA1 gene

Genes: OPA1
Lab method: MLPA
TAT: 4-6 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 a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

1. Confirmation of clinical diagnosis
2. Genetic counseling
3. Prenatal diagnosis for known familial mutation

Optic atrophy is characterized by progressive bilateral blindness due to the loss of retinal ganglion cells and optic nerve deterioration. The severity of vision loss varies from nearly normal vision to complete blindness. The age of onset is usually between 4 and 6 years, but optic atrophy rarely causes severe vision impairment in childhood.

Asper Ophthalmics

Published 16/04/2010

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 Fibrosis of Extraocular Muscles
Congenital Stationary Night Blindness
Corneal Dystrophy
Ectopia Lentis
Eye Diseases NGS panel of 294 genes
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
Whole Exome Sequencing

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.