List of diseases covered by
Polycystic Kidney Disease NGS panel

Gene Condition
ALG8 Polycystic liver disease 3
with or without kidney cysts;
Congenital disorder of glycosylation, type Ih
ANKS6 Nephronophthisis 16
BICC1 Renal dysplasia, cystic, susceptibility to
COL4A1 Retinal arteries, tortuosity of;
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps;
Brain small vessel disease with or without ocular anomalies;
Hemorrhage, intracerebral, susceptibility to
DNAJB11 Polycystic kidney disease 6 with or
without polycystic liver disease
DZIP1L Polycystic kidney disease 5
GANAB Polycystic kidney disease 3
HNF1B Renal cysts and diabetes syndrome;
Diabetes mellitus, noninsulin-dependent; Renal cell carcinoma
LRP5 Exudative vitreoretinopathy 4;
Hyperostosis, endosteal;
Osteopetrosis, autosomal dominant 1; Osteoporosis-pseudoglioma syndrome;
Polycystic liver disease 4 with or without kidney cysts;
van Buchem disease, type 2
MUC1 Medullary cystic kidney disease 1
NOTCH2 Alagille syndrome 2; Hajdu-Cheney syndrome
OFD1 Retinitis pigmentosa 23;
Joubert syndrome 10; Orofaciodigital syndrome I;
Simpson-Golabi-Behmel syndrome, type 2
PKD1 Polycystic kidney disease 1
PKD2 Polycystic kidney disease 2
PKHD1 Polycystic kidney disease 4,
with or without hepatic disease
PRKCSH Polycystic liver disease 1
SEC63 Polycystic liver disease 2
SEC61A1 Hyperuricemic nephropathy,
familial juvenile, 4
TSC1 Lymphangioleiomyomatosis;
Tuberous sclerosis-1
TSC2 Tuberous sclerosis-2
UMOD Glomerulocystic kidney disease
with hyperuricemia and isosthenuria;
Hyperuricemic nephropathy, familial juvenile 1;
Medullary cystic kidney disease 2
VHL Erythrocytosis, familial, 2;
Pheochromocytoma; von Hippel-Lindau syndrome
ZNF423 Nephronophthisis 14