Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

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CAKUT (congenital anomalies of the kidney and urinary tract) Gene Panel

PD Dr. med. Julia Höfele

Congenital anomalies of the kidney and urinary tract (CAKUT) has an incidence of 3-6 per 1,000 newborns and is the main cause of chronic renal insufficiency in children. The phenotypic spectrum of CAKUT ranges from vesicoureteral reflux to renal agenesis. CAKUT can occur isolated or as a part of complex dysmorphic syndromes. Mutations in several different genes were identified to be associated with CAKUT.


Method

All coding exons and their flanking intronic sequences from the genes in the CAKUT gene panel are analyzed either by Sanger sequencing or by next generation sequencing (NGS).