Table 2.
Positive genetic findings and diagnostic yield according to pretest clinical disease category
| Clinical Disease Category | Full Cohort | Positive Cases | ||
|---|---|---|---|---|
| N (%) | No. of Cases | Proportion of all Positive Cases, % | Diagnostic Yield (per Disease), % | |
| All Categories | 1623 | 338 | 100 | 20.8 |
| Cystic nephropathy | 262 (16.1) | 130 | 38.5 | 49.6 |
| Nephropathy associated with hypertension | 260 (16.0) | 37 | 10.9 | 14.2 |
| Proteinuric disease suggestive of a primary glomerulopathy | 236 (14.5) | 40 | 11.8 | 16.9 |
| Nephropathy associated with diabetes mellitus | 206 (12.7) | 18 | 5.3 | 8.7 |
| ESKD | 190 (11.7) | 28 | 8.3 | 14.7 |
| CKD of unknown etiology | 132 (8.1) | 24 | 7.1 | 18.2 |
| Nephrolithiasis with family history | 58 (3.6) | 5 | 1.5 | 8.6 |
| Congenital nephropathy | 50 (3.1) | 10 | 3.0 | 20.0 |
| Early onset, severe, or familial hypertension | 46 (2.8) | 5 | 1.5 | 10.9 |
| Hematuria | 45 (2.8) | 15 | 4.4 | 33.3 |
| Tubulointerstitial disease of unknown etiology | 44 (2.7) | 6 | 1.8 | 13.6 |
| Electrolyte and/or acid base disorder | 43 (2.6) | 11 | 3.3 | 25.6 |
| Thrombotic microangiopathy | 4 (0.2) | 0 | 0.0 | 0.0 |
| Not reported | 47 (2.9) | 9 | 2.7 | 19.1 |