Mutation Screening of Large, Typical ADPKD Populations

The Molecular Genetics and Biomarker Core offers mutation screening of autosomal dominant polycystic kidney disease (ADPKD) genes to facilitate clinical trials.

Although the mutation screening is research testing, the core uses quality control and assurance principles similar to those in a clinical testing laboratory.

Typical procedure

  • De-identified samples are submitted as DNA from patients within the clinical trial who have consented to genetic testing. Review the core's DNA submission criteria.
  • The core specifically amplifies each exon and flanking intronic regions of the PKD1 and PKD2 genes for Sanger sequence analysis.
  • The resulting sequence is screened for mutations, with each deviation from the reference sequence then evaluated to determine pathogenicity, as described in the ADPKD Mutation Database.
  • In cases where a clear mutation isn't detected, screening for larger deletions by MLPA is done.
  • The core provides a report summarizing the likely pathogenic mutation and other detected variants, along with an interpretation of the findings.


Email us for more information about mutation screening of ADPKD genes.