Mutation Screening of Large, Typical ADPKD Populations

The Molecular Genetics and Biomarker Core offers mutation screening of the autosomal dominant polycystic kidney disease (ADPKD) genes to facilitate clinical trials. The screening is research testing, but quality control and assurance principles similar to those in a clinical testing laboratory are used.

Typical procedure

  • De-identified samples are submitted as DNA from patients within the clinical trial who have consented to genetic testing. See 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 is not detected, screening for larger deletions by MLPA is employed.
  • A report summarizing the likely pathogenic mutation and other detected variants and an interpretation of the findings is provided to the client.


For more information about services and fees, contact the core.