Table 3.
Clinical Indications of Patients Referred for Targeted Next-Generation Sequencing and Whole Genome Sequencing
| 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.