Mutation Screening of Large, Typical ADPKD Populations


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

There will normally be a charge for this service; contact the core (see below) for more information and rates.

Typical procedure

  • De-indentified samples will be submitted as DNA from patients within the clinical trial who have consented to genetic testing.
  • The core PCR-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 available.
  • A report summarizing the likely pathogenic mutation and other detected variants, as well as an interpretation of the findings, is provided to the requestor.

Submit an email inquiry to the core about this service.