Genetics, Epigenetics and Biomarker Core (Mayo Clinic Pirnie Translational Polycystic Kidney Disease Center)

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:

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

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.

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