Mutation Screening of Cell Lines Derived From ADPKD Patients

The Molecular Genetics and Biomarker Core offers mutation screening of autosomal dominant polycystic kidney disease (ADPKD) genes and other genes to facilitate the use of PKD cells for research.

Typical procedure

  • For mutation screening services, samples are submitted as DNA or cell pellets from the cell lines. Review the core's DNA submission criteria.
  • The core specifically amplifies each exon and flanking intronic region 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 for the ADPKD cases.
  • In cases where a clear mutation isn't detected, screening for larger deletions by MLPA is done.
  • A report summarizing the likely pathogenic mutation and other detected variants is provided, along with an interpretation of the findings.


For a small number of samples, the mutation screening service is usually done at no charge.

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