Core Services and Tools

The Genetics, Epigenetics and Metabolomics Core offers six main PKD services:

• Mayo PKD Clinical Database.
• Mutation screening of cystic disease genes.
• Cystic Kidney and Liver Disease Biobank.
• Epigenetic analysis of human cystic disease.
• Microvascular, metabolic and mitochondrial analysis in PKD.
• Distribution of full-length, tagged clones of PKD genes.

Submitting samples

The core also accepts submissions of DNA.

• DNA submission criteria.

Core tools

PKD research tools and resources include:

• Classification of Typical ADPKD Calculator.
• Autosomal Dominant Polycystic Kidney Disease Variant Database.
• Ensembl genome browser.
• The Human Gene Mutation Database.
• Human Splicing Finder.
• UCSC Genome Browser.
• Genome Aggregation Database.