Optic Atrophy

Optic Atrophy
NGS panel

Genes
(full coding
region):
OPA1, OPA3, TMEM126A

Lab method: NGS panel NGS panel with CNV

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

Asper Ophthalmics

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Eye Diseases NGS panel of 288 genes UPDATED
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Leber Hereditary Optic Neuropathy

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Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome
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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.