Kidney diseases

Alport syndrome, X-dominant

Alport syndrome, recessive

Alport-like syndrome (Fechtner syndrome), dominant

Cystinuria, recessive

CASR diseases, dominant (familial hypocalciuric hypercalcaemia/familial hypocalcaemia with hypercalciuria)

Dent disease, X-recessive

Nephrogenic diabetes insipidus

Focal segmental glomerulosclerosis/FSGS

Hypercalcaemia, recessive

Primary hyperoxaluria, recessive

Congenital anomalies of the kidneys and urinary tract (CAKUT), dominant

Tubulointerstitial nephropathy (ADTKD)/MCKD, dominant

Interstitial nephritis with karyomegaly (KMIN), recessive

Nephronophthisis, recessive

Renal-tubular dysgenesis, recessive

Nephrotic syndrome, recessive

Nephrotic syndrome, dominant

Atypical haemolytic uraemic syndrome (aHUS), dominant/recessive

Thrombotic thrombocytopenic purpura, recessive

Polycystic kidney disease (ARPKD/ADPKD)

EAST (SESAME) syndrome, recessive

Gitelman syndrome, recessive

Adrenal gland adenoma/hyperaldosteronism

Hypertension with brachydactyly syndrome, dominant

17α-hydroxylase deficiency, recessive

Apparent mineralocorticoid excess, recessive

Liddle syndrome, dominant

Pseudohypoaldosteronism, dominant/recessive

Polyhydramnios/transient Bartter’s syndrome, X-recessive

Cystinosis, recessive

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.

Gene	OMIM	Method
COL4A5	303630	Sequencing

Gene	OMIM	Method
COL4A3 COL4A4	120070 120131	Sequencing MLPA

Gene	OMIM	Method
MYH9	160775	Sequencing

Gene	OMIM	Method
SLC3A1 SLC7A9	104614 604144	Sequencing

Gene	OMIM	Method
CASR	601199	Sequencing

Gene	OMIM	Method
AQP2 AVPR2	107777 300538	Sequencing

Gene	OMIM	Method
CYP24A1 SLC34A1	126065 182309	Sequencing

Gene	OMIM	Method
SCNN1B SCNN1G	600760 600761	Sequencing