Mutation Screening of Cell Lines Derived From ADPKD Patients


The Molecular Genetics and Proteomics Core offers mutation screening of the autosomal dominant PKD (ADPKD) genes to facilitate the use of ADPKD cells for research. For small numbers of samples, this service will usually be done at no charge; contact the core (see below) for more information.

Typical procedure

  • Samples will be submitted as DNA or cell pellets from the cell lines.
  • 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.