Kidney diseases

Alport syndrome, X-dominant
Gene OMIM Method
COL4A5 303630 Sequencing
Alport syndrome, recessive
Gene OMIM Method
COL4A3

COL4A4

120070

120131

Sequencing

MLPA

Alport-like syndrome (Fechtner syndrome), dominant
Gene OMIM Method
MYH9 160775 Sequencing
Cystinuria, recessive
Gene OMIM Method
SLC3A1

SLC7A9

104614

604144

Sequencing
CASR diseases, dominant (familial hypocalciuric hypercalcaemia/familial hypocalcaemia with hypercalciuria)
Gene OMIM Method
CASR 601199 Sequencing
Dent disease, X-recessive
Gene OMIM Method
CLCN5 300008 Sequencing
Nephrogenic diabetes insipidus
Gene OMIM Method
AQP2

AVPR2

107777

300538

Sequencing
Focal segmental glomerulosclerosis/FSGS
Gene OMIM Method
CRB2 609720 Sequencing
Hypercalcaemia, recessive
Gene OMIM Method
CYP24A1

SLC34A1

126065

182309

Sequencing
Primary hyperoxaluria, recessive
Gene OMIM Method
AGXT

GRHPR

HOGA1

604285

604296

613597

Sequencing

MLPA

Congenital anomalies of the kidneys and urinary tract (CAKUT), dominant
Gene OMIM Method
HNF1B

PAX2

RET

189907

167409

164761

Sequencing

MLPA

Tubulointerstitial nephropathy (ADTKD)/MCKD, dominant
Gene OMIM Method
HNF1B

REN

UMOD

189907

179820

191845

Sequencing

MLPA (HNF1B)

Interstitial nephritis with karyomegaly (KMIN), recessive
Gene OMIM Method
FAN1 613534 Sequencing
Nephronophthisis, recessive
Gene OMIM Method
BBS10

NPHP1

NPHP2

NPHP3

610148

607100

602088

608002

Sequencing

MLPA (NPHP1)

Renal-tubular dysgenesis, recessive
Gene OMIM Method
ACE

AGT

AGTR1

REN

106180

106150

106165

179820

Sequencing
Nephrotic syndrome, recessive
Gene OMIM Method
ADCK4

ARHGDIA

COQ2

COQ6

DGKE

LAMB2

MYO1E

NPHS1

NPHS2

PDSS2

PLCE1

PTPRO

SMARCAL1

TRPC6

WDR73

APOL1

615567

601925

609825

614647

601440

150325

601479

602716

604766

610564

608414

600579

606622

603652

616144

603743

Sequencing
Nephrotic syndrome, dominant
Gene OMIM Method
ACTN4

INF2

LMX1B

PAX2

TRPC6

WT1

604638

610982

602575

167409

603652

607102

Sequencing

MLPA (LMX1B)

Atypical haemolytic uraemic syndrome (aHUS), dominant/recessive
Gene OMIM Method
MMACHC

CFB

DGKE

CFH

CD46

CFI

C3

THBD

609831

138470

601440

134370

120920

217030

120700

188040

Sequencing

MLPA (CFI, CD46)

Thrombotic thrombocytopenic purpura, recessive
Gene OMIM Method
ADAMTS13 604134 Sequencing
Polycystic kidney disease (ARPKD/ADPKD)
Gene OMIM Method
PKHD1

PKD1

PKD2

GANAB

HNF1B

DZIP1L

606702

601313

173910

104160

189907

617570

Sequencing

MLPA (PKD1, PKD2, HNF1B)

EAST (SESAME) syndrome, recessive
Gene OMIM Method
KCNJ10 602208 Sequencing
Gitelman syndrome, recessive
Gene OMIM Method
KCNJ10 600968 Sequencing
Adrenal gland adenoma/hyperaldosteronism
Gene OMIM Method
KCNJ5

RMND1

CYP11B1

CYP11B2

600734

614917

610613

124080

Sequencing
Hypertension with brachydactyly syndrome, dominant
Gene OMIM Method
PDE3A 123805 Sequencing
17α-hydroxylase deficiency, recessive
Gene OMIM Method
CYP17A1 609300 Sequencing
Apparent mineralocorticoid excess, recessive
Gene OMIM Method
HSD11B2 614232 Sequencing
Liddle syndrome, dominant
Gene OMIM Method
SCNN1B

SCNN1G

600760

600761

Sequencing
Pseudohypoaldosteronism, dominant/recessive
Gene OMIM Method
NR3C2

CUL3

KLHL3

SCNN1A

SCNN1B

SCNN1G

WNK1

WNK4

600983

603136

605775

600228

600760

600761

605232

601844
Sequencing
Polyhydramnios/transient Bartter’s syndrome, X-recessive
Gene OMIM Method
MAGED2 300470 Sequencing
Cystinosis, recessive
Gene OMIM Method
CTNS 606272 Sequencing

MLPA

Contact

Assistant Prof. Dr. Bodo Beck
Telephone +49 221 478-86824
Email bodo.beck@uk-koeln.de

Dr. Florian Erger
Telephone +49 221 478-86828
Email florian.erger@uk-koeln.de

Access the request form here.

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