Table 1 Diagnostic yield of clinical exome sequencing in pediatric cohort
Features | No of cases | No of cases with diagnostic variants | Diagnostic yield (%) |
|---|---|---|---|
CAKUT | 34 | 7 | 20.6 |
Ciliopathies | 39 | 29 | 74.4 |
Glomerulopathies | 62 | 15 | 24.2 |
Nephrolithiasis | 22 | 10 | 45.5 |
Tubulopathies | 20 | 9 | 45.0 |
Others | 14 | 1 | 7.1 |
Positive family history | 47 | 28 | 59.6 |
Negative family history | 144 | 43 | 29.9 |