Ophthalmology Panels target genes associated with inherited eye diseases, such as retinal dystrophies, glaucoma, corneal dystrophies, and optic nerve disorders. These panels can identify mutations in genes involved in visual function, eye development, and ocular health.
Test ID | Disorder | Genes |
---|---|---|
EYET_01 | Bardet-Biedl Syndrome | 19 genes |
EYET_02 | Choroideremia | 1 gene |
EYET_03 | Cone rod dystrophy | 36 genes |
EYET_04 | Congenital stationary night blindness | 13 genes |
EYET_05 | Corneal dystrophy | 12 genes |
EYET_06 | Glaucoma | 8 genes |
EYET_07 | Leber congenital amaurosis | 21 genes |
EYET_08 | Retinal dysplasia | 2 genes |
EYET_09 | Retinitis pigmentosa | 64 genes |
EYET_010 | Stargardt disease | 3 genes |
EYET_011 | Usher syndrome | 12 genes |
EYET_012 | Vitelliform macular dystrophy | 3 genes |
EYET_013 | Vitreoretinopathy | 6 genes |
Methodology: | NGS |
Sample Type | Container | Shipping Conditions | Max Transit Time |
---|---|---|---|
Blood | EDTA Tube | 4–8 °C | 72 hrs |
Saliva | Saliva Collection Kit | 4–8 °C | 48 hrs |
Genomic DNA | 1.5 ml Eppendorf Tube | 4–8 °C | 48 hrs |
Dry Blood Spot | Whatmann Paper | RT | 72 hrs |
Cheek/Buccal Swab | Saliva Collection Kit | 4–8 °C | 48 hrs |
21 Days