OCULAR DISEASES
Genetic testing is increasingly becoming an important tool for determining the causes of hereditary ophthalmological diseases. Currently, more than 100 different genes are known to be associated with ophthalmological diseases, including early-onset cataracts, glaucoma, retinitis pigmentosa, macular dystrophy, Stargardt disease, and Stickler syndrome.
Request Test
- Sample material: EDTA whole blood
- Testing method: Next-Generation Sequencing (NGS)
- Turnaround time: from 2 weeks
- Required documents:
Detailed information on sample submission can be found here.
DIAGNOSTIC SERVICES
The following table presents our indication-specific testing services in this area:
| INDICATION | ANALYSIS |
| Achromatopsia | Gene panel |
| Duane syndrome | Gene panel |
| Familial exudative (vitreo-) retinopathy | Gene panel |
| Glaucoma | Gene panel |
| Corneal dystrophy | Gene panel |
| Cataract | Gene panel |
| Congenital myopia | Gene panel |
| Congenital stationary night blindness (CSNB) | Gene panel |
| Leber congenital amaurosis (LCA) | Gene panel |
| Macular dystrophy | Gene panel |
| Best disease, vitelliform macular dystrophy | Gene panel |
| Stargardt disease | Gene panel |
| Retinal dystrophy | Gene panel |
| Nystagmus | Gene panel |
| Ocular and oculocutaneous albinism | Gene panel |
| Oculomotor apraxia (COMA) | Gene panel |
| Optic atrophy | Gene panel |
| Retinitis pigmentosa | Gene panel |
| Septo-optic dysplasia | Gene panel |
| Stickler syndrome | Gene panel |
| Usher syndrome | Gene panel |
| Cone-rod dystrophy | Gene panel |
The genes analyzed in the respective gene panels are always based on the current versions of Genomics England PanelApp, PanelApp Australia, the OMIM Phenotypic Series, and the entries from GeneReviews.
If the suspected diagnosis or indication is not listed here, or if it involves a complex syndromic clinical presentation, it is possible to request exome sequencing based on phenotypic features.