Kidney
Product NameApplicationRegion
P118-WT1 Wilms tumours, WAGR, Denys-Drash, Frasier syndrome. WT1 11p13
P136-Gitelman Gitelman syndrome SLC12A3 16q13
P153-EYA1 Branchio-oto-renal dysplasia syndrome (BOR) EYA1 8q13.3.
P191-Alport-mix1 Alport syndrome, Hereditary Nephritis COL4A5 Xq22
P192-Alport-mix2 Alport syndrome, Hereditary Nephritis COL4A5 Xq22
P234-GATA3 - GATA4 Cardiac septal defects GATA4 8p23, GATA3 10p15
P236-ARMD mix-1basic research Age-related macular degeneration (ARMD) CFH, CFHR3, CFHR1, CFHR2, 1q23
P256-FLCN Birt-Hogg-Dube syndrome FLCN 17p11, Smith-Magenis syndrome region
P266-CLCNKB Bartter syndrome type 3 CLCNKB 1p36.13
P296-aHUS Hemolytic uremic syndrome, atypical (aHUS) CFI 4q25
P305-AGXT Primary hyperoxaluria, type 1 (PH1) & type 2 (PH2) AGXT, GRHPR
P341-PKHD1 mix 1 Autosomal Recessive Polycystic Kidney Disease (ARPKD) PKHD1
P342-PKHD1 mix 2 Autosomal Recessive Polycystic Kidney Disease (ARPKD) PKHD1
P351-PKD1 Autosomal Dominant Polycystic Kidney Disease (ADPKD) PKD1
P352-PKD1-PKD2 Autosomal Dominant Polycystic Kidney Disease (ADPKD) PKD1, PKD2
P380-Wilms' tumour Wilms' tumour various
P387-NPHP1 Nephronophthisis 1 NPHP1 2q13
P426-Cystinuria Cystinuria SLC3A1, 2p12 and SLC7A9
P439-COL4A3 Alport Syndrome 02q36.3
P444-COL4A4 Alport Syndrome 2q36.3
P473-CTNS (Nephropathic) Cystinosis 17p13.2
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