Graphic showing DNA and genetics

The Molecular Genetics and Biomarker Core within the Translational Polycystic Kidney Disease (PKD) Center at Mayo Clinic provides specialized services to investigators worldwide in support of research and clinical trials related to autosomal dominant polycystic kidney disease (ADPKD) and other forms of PKD.

Core services

  • Mutation screening of cell lines derived from ADPKD patients. The core offers mutation screening of the ADPKD genes and others to facilitate the use of PKD cells for research. Learn more.
  • Mutation screening of large, typical ADPKD populations. A major focus of the core is providing PKD1 and PKD2 mutation screening (research testing) by Sanger sequencing as a way to characterize large ADPKD populations, such as those involved in clinical trials. Learn more.
  • 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), and targeted sequencing and whole-exome analysis for gene discovery for unusual PKD cases. Learn more.
  • Cystic Kidney and Liver Disease Biobank (CKLBB) from ADPKD patients. Tissue samples are collected from nephrectomy and partial liver resection patients as valuable reagents for understanding PKD pathogenesis. Learn more.
  • 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. Learn more.