Kidney
You may also be interested in our brochure MLPA for Cilia Disorders (link opens in a new window).

Product NameApplicationRegion
P118-WT1 Wilms tumour; WAGR syndrome; Denys-Drash syndrome; Frasier syndrome; Meacham syndrome; Nephrotic syndrome type 4 (NPHS4) WT1 11p13; AMER1 1p22.1
P136-Gitelman Gitelman syndrome SLC12A3 16q13
P153-EYA1 Branchio-oto-renal dysplasia syndrome (BOR) EYA1 8q13.3.
P191-Alport-mix1 Alport syndrome, X-linked COL4A5 Xq22.3
P192-Alport-mix2 Alport syndrome, X-linked COL4A5 Xq22.3
P234-GATA3 - GATA4 Ventricular septal defect-1 (VSD1); Hypoparathyroidism, sensorineural deafness, and renal disease (HDR) syndrome GATA4 8p23.1; GATA3 10p14
P236-ARMD mix-1basic research Age-related macular degeneration (ARMD) CFH, CFHR3, CFHR1, CFHR2, 1q23
P256-FLCN Birt-Hogg-Dube syndrome FLCN 17p11.2; Smith-Magenis syndrome region
P266-CLCNKB Bartter syndrome type 3 CLCNKB 1p36.13
P296-aHUS Hemolytic uremic syndrome, atypical (aHUS) CFI 4q25; CD46 1q32.2
P305-AGXT Primary hyperoxaluria type 1 (PH1); Primary hyperoxaluria type 2 (PH2) AGXT2q37.3; GRHPR 9p13.2
P341-PKHD1 mix 1 Polycystic kidney disease, autosomal recessive (ARPKD) PKHD1 6p12.2
P342-PKHD1 mix 2 Polycystic kidney disease, autosomal recessive (ARPKD) PKHD1 6p12.2
P351-PKD1 Polycystic kidney disease, autosomal dominant (ADPKD) PKD1 16p13.3
P352-PKD1-PKD2 Polycystic kidney disease, autosomal dominant (ADPKD) PKD1 16p13.3; PKD2 4q22.1
P380-Wilms' tumour Wilms tumour various
P387-NPHP1 Nephronophthisis 1 (NPH1); Senior-Loken syndrome type 1 (SLSN1); Joubert syndrome type 4 (JBTS4) NPHP1 2q13
P426-Cystinuria Cystinuria SLC3A1 2p12; PREPL 2p12; SLC7A9 19q13.11
P439-COL4A3 Alport syndrome 2q36.3
P444-COL4A4 Alport syndrome 2q36.3
P473-CTNS (Nephropathic) Cystinosis 17p13.2
P474-CD274-PDCD1LG2-JAK2 Various cancer types CD274 (PDL1), PDCD1LG2 (PDL2), JAK2 at 9p24.1
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