Product Name

Application

Region

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-1

(basic 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