Table 3.
Clinical Diagnosis | No. of Cases Referred for Targeted NGS | No. of Cases Referred for WGS |
---|---|---|
RP or rod-cone dystrophy | 268 | 20 |
Leber congenital amaurosis or early onset rod-cone dystrophy | 78 | 4 |
Other (indication not included in this list, or not defined) | 43 | 5 |
Stargardt disease or macular dystrophy | 49 | 5 |
Usher syndrome | 41 | 8 |
Cone-rod dystrophy | 39 | 3 |
Achromatopsia or cone dystrophy | 27 | 1 |
Syndromic ciliopathies | 8 | - |
Familial exudative vitreoretinopathy | 5 | - |
Choroideremia | 4 | - |
NGS = next-generation sequencing; RP = retinitis pigmentosa; WGS = whole genome sequencing.