Disease macro-categories | Diagnostic yield |
---|
CAKUT | 20.6§ | 13.8 [15] | 17 [16] | 14 [17] | 21.2 [18] | |
Ciliopathies | 74.4§ | 23.9 [19] | 78 [20] | 47.7 [21] | | |
Glomerulopathies | 24.2§ | 7.2 [19] | 62 [20] | | | |
Nephrolithiasis | 45.5§ | 14.9 [22] | 16.8 [23] | 29.4 [24] | 33 [25] | 75 [26] |
Tubulopathies | 45§ | 64 [27] | 61.1 [21] | | | |
Others | 7.1§ | 28.6 [21] | | | | |
- Comparison of the diagnostic yield between the present study and other published data of genetic analyses in pediatric cohorts
- §Present study