Table 2a. Single gene tests before WES per category.
Categories | Subcategories | No. of individuals with single gene test(s) (%) | No. of single gene tests (per individual) | No. of individuals with GJB2/GJB6 test (%) |
---|---|---|---|---|
Total | 137 (68.5%) | 306 (1.5) | 80 (40%) | |
WES result | Causative variant(s) | 45 (67.2%) | 101 (1.5) | 32 (47.8%) |
Variant(s) of uncertain significance | 8 (80.0%) | 17 (1.7) | 4 (36.4%) | |
No detected causative variant(s) | 84 (68.3%) | 188 (1.5) | 44 (35.8%) | |
Inheritance | adHI | 45 (68.2%) | 106 (1.6) | 11 (16.7%) |
arHI | 24 (77.4%) | 43 (1.4) | 17 (54.8%) | |
Isolated HI | 67 (55.8%) | 154 (1.5) | 51 (50.0%) | |
X-linked HI | 1 (100.0%) | 3 (3.0) | 1 (100.0%) |