RWTH Aachen University
Mutation Database Autosomal Recessive Polycystic Kidney Disease (ARPKD/PKHD1)
Department of Human Genetics, RWTH Aachen University, Pauwelsstraße 30, D-52074 Aachen, Germany

Diagnostic molecular genetic testing of hereditary nephropathies available in our lab

Diagnostic testing for ARPKD

As a prerequisite for ARPKD, parental abdominal ultrasounds have to be normal. As there is so far no clear evidence for genetic heterogeneity in ARPKD, haplotype based genotyping with closely flanking and intragenic markers is usually regarded to be sufficient to establish the diagnosis in cases with pathoanatomical proof of ARPKD (including the obligate finding of congenital hepatic fibrosis). The costs depend on the number of markers to be tested, however, usually they are less than 1000 Euro. In case there are any healthy sibs these should be included in the linkage analysis as well. The turn-around time will probably be a few weeks, a PD in a future pregnancy is usually completed within 1-2 weeks time.

Mutation analysis of the large PKHD1 gene can be restricted to cases with diagnostic uncertainties or to cases in which no DNA of the index case is available. The mutation detection rate in the PKHD1 gene yielded in our lab is about 80%, in more than 95% of families at least one mutation can be identified making the diagnosis highly likely in most cases. As further outlined on our database, the gene is large and most mutations are private ones restricted to a single family. Thus, about 80 PCR fragments have to be screened for mutations in an affected. This makes the analysis time-consuming and expensive. The turn-around time is about 4-6 months. To improve mutation analysis of the PKHD1 gene in a routine diagnostic setting, we have developed an algorithm, i. e. a sensitive and efficient strategy robust for clinical use. Thus, we now offer this algorithm, screening the most frequently mutated exons/fragments.

Diagnostic testing for other genetic kidney diseases

  • Autosomal dominant polycystic kidney disease (ADPKD)
  • Autosomal dominant medullary cystic kidney disease (ADMCKD Type 2)
  • Renal cysts and diabetes syndrome (RCAD)
  • Nephronophthisis (NPHP)
  • Meckel-Gruber syndrome and meckel-like syndrome (MKS)
  • Bardet-Biedl syndrome (BBS)
  • Joubert syndrome and related syndromes (JS, JSRD)
  • Renal tubular dysgenesis (RTD)
  • Cystinuria


For further information visit our website or consult the following table (pdf document) with detailed information about our diagnostic offer.

In case of any questions, please do not hesitate to contact us.

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