Alport syndrome, X-dominant
| Gene | OMIM | Method |
| COL4A5 | 303630 | Sequencing |
Alport syndrome, recessive
Alport-like syndrome (Fechtner syndrome), dominant
| Gene | OMIM | Method |
| MYH9 | 160775 | Sequencing |
CASR diseases, dominant (familial hypocalciuric hypercalcaemia/familial hypocalcaemia with hypercalciuria)
| Gene | OMIM | Method |
| CASR | 601199 | Sequencing |
Dent disease, X-recessive
| Gene | OMIM | Method |
| CLCN5 | 300008 | Sequencing |
Nephrogenic diabetes insipidus
Focal segmental glomerulosclerosis/FSGS
| Gene | OMIM | Method |
| CRB2 | 609720 | Sequencing |
Hypercalcaemia, recessive
Primary hyperoxaluria, recessive
Congenital anomalies of the kidneys and urinary tract (CAKUT), dominant
Tubulointerstitial nephropathy (ADTKD)/MCKD, dominant
Interstitial nephritis with karyomegaly (KMIN), recessive
| Gene | OMIM | Method |
| FAN1 | 613534 | Sequencing |
Nephronophthisis, recessive
Renal-tubular dysgenesis, recessive
Nephrotic syndrome, recessive
Nephrotic syndrome, dominant
Atypical haemolytic uraemic syndrome (aHUS), dominant/recessive
Thrombotic thrombocytopenic purpura, recessive
| Gene | OMIM | Method |
| ADAMTS13 | 604134 | Sequencing |
Polycystic kidney disease (ARPKD/ADPKD)
EAST (SESAME) syndrome, recessive
| Gene | OMIM | Method |
| KCNJ10 | 602208 | Sequencing |
Gitelman syndrome, recessive
| Gene | OMIM | Method |
| KCNJ10 | 600968 | Sequencing |
Adrenal gland adenoma/hyperaldosteronism
Hypertension with brachydactyly syndrome, dominant
| Gene | OMIM | Method |
| PDE3A | 123805 | Sequencing |
17α-hydroxylase deficiency, recessive
| Gene | OMIM | Method |
| CYP17A1 | 609300 | Sequencing |
Apparent mineralocorticoid excess, recessive
| Gene | OMIM | Method |
| HSD11B2 | 614232 | Sequencing |
Liddle syndrome, dominant
Pseudohypoaldosteronism, dominant/recessive
Polyhydramnios/transient Bartter’s syndrome, X-recessive
| Gene | OMIM | Method |
| MAGED2 | 300470 | Sequencing |
| Gene | OMIM | Method |
| CTNS | 606272 | Sequencing MLPA |
