Mutation Screening of Cell Lines Derived From ADPKD Patients

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

For a small number of samples, this service is usually done at no charge.

Typical procedure

  • Samples are submitted as DNA or cell pellets from the cell lines. See 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 is not detected, screening for larger deletions by MLPA is employed.
  • A report summarizing the likely pathogenic mutation and other detected variants, as well as an interpretation of the findings, is provided to the requestor.


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