List of diseases covered by
Nephronophthisis NGS panel
| Gene | Condition |
| ANKS6 | Nephronophthisis 16 |
| CEP83 | Nephronophthisis 18 |
| CEP164 | Nephronophthisis 15 |
| CEP290 | Bardet-Biedl syndrome 14; Joubert syndrome 5; Leber congenital amaurosis 10; Meckel syndrome 4; Senior-Loken syndrome 6 |
| DCDC2 | Nephronophthisis 19; Deafness, autosomal recessive 66; Sclerosing cholangitis, neonatal |
| GLIS2 | Nephronophthisis 7 |
| INVS | Nephronophthisis 2, infantile |
| IFT172 | Retinitis pigmentosa 71; Short-rib thoracic dysplasia 10 with or without polydactyly |
| IQCB1 | Senior-Loken syndrome 5 |
| NEK8 | Nephronophthisis 9; Renal-hepatic-pancreatic dysplasia 2 |
| NPHP1 | Joubert syndrome 4; Nephronophthisis 1, juvenile; Senior-Loken syndrome-1 |
| NPHP3 | Meckel syndrome 7; Nephronophthisis 3; Renal-hepatic-pancreatic dysplasia 1 |
| NPHP4 | Senior-Loken syndrome 4 |
| RPGRIP1L | COACH syndrome; Joubert syndrome 7; Meckel syndrome 5 |
| SDCCAG8 | Bardet-Biedl syndrome 16; Senior-Loken syndrome 7 |
| TMEM67 | RHYNS syndrome; COACH syndrome; Joubert syndrome 6; Meckel syndrome 3; Nephronophthisis 11 |
| TTC21B | Short-rib thoracic dysplasia 4 with or without polydactyly; Nephronophthisis 12 |
| WDR19 | Senior-Loken syndrome 8; Nephronophthisis 13; Short-rib thoracic dysplasia 5 with or without polydactyly; Cranioectodermal dysplasia 4 |
| XPNPEP3 | Nephronophthisis-like nephropathy 1 |
| ZNF423 | Joubert syndrome 19 |