Mutation Screening of Cystic Disease Genes
The Genetics, Epigenetics and Metabolomics Core offers mutation screening services for polycystic kidney disease (PKD). Screening is performed with a targeted next-generation sequencing (tNGS) of PKD and ciliopathy genes or whole-exome sequencing (WES).
Typical process
- For mutation screening services, samples are submitted as DNA or cell pellets from the cell lines. Review our DNA submission criteria.
- Samples are analyzed on a tNGS panel containing known and candidate PKD genes or using WES 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. Each deviation from the reference sequence is then evaluated to determine pathogenicity using bioinformatics tools and population data.
- The NDS data also are analyzed for larger rearrangements by copy number variance. 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.
Contact
Email us for more information about mutation screening services.