The Molecular Genetics and Proteomics Core, one of three core facilities supported by the Mayo Translational PKD Center, provides specialized services in support of research and clinical trials related to autosomal dominant polycystic kidney disease (ADPKD) to investigators worldwide.
- Mutation screening of large, typical ADPKD populations: A major focus of the core is providing PKD1 and PKD2 mutation screening (research testing) by direct sequencing as a way to characterize large ADPKD populations, such as those involved in clinical trials.
- Mutation screening of cell lines derived from ADPKD patients: The core offers mutation screening of the ADPKD genes to facilitate the use of ADPKD cells for research.
- Genetic screening of atypical PKD families: To enable the identification of novel PKD genes and unique allelic combinations, the core facilitates sample collection, mutation screening (including genes beyond PKD1 and PKD2), linkage analysis and gene discovery for unusual PKD cases.
- Urine collection and fractionation: The core facilitates the collection, fractionation and storage of urine samples from Mayo Clinic patients, especially those involved in clinical trials, for future biomarker analysis.