Mutation Screening of Cystic Disease Genes

The Genetics, Epigenetics and Biomarker Core offers mutation screening services for four different polycystic kidney disease (PKD) population types:

  • Clinical trial/observational study
  • Cell-lines and tissues
  • Atypical patient presentations
  • Ciliopathy populations

All screening is performed with a targeted next-generation sequencing approach of PKD and ciliopathy genes.

Typical process

  • For mutation screening services, samples are submitted as DNA or cell pellets from the cell lines. Review the core's DNA submission criteria.
  • Samples are analyzed on a targeted next-generation sequencing panel containing known and candidate PKD genes and sequenced by paired-end reads on an Illumina HiSeq. In addition, some regions of PKD1 and PKD2 are sequenced by Sanger sequencing to ensure adequate coverage of regions difficult to sequence.
  • The resulting sequence is screened for mutations, with each deviation from the reference sequence then evaluated to determine pathogenicity employing bioinformatics tools and population data.
  • The next-generation sequencing data is also analyzed for larger rearrangements by copy number variance, and MLPA also is performed.
  • 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.