Patent ID: 8735076
Filing Date: 2014-05-27
Classification: C12Q

Abstract:
1. A method of diagnosing PTEN Hamartoma Tumor Syndrome (PHTS) or susceptibility to PHTS in an individual comprising a) performing a haplotype analysis on a sample of the individual's PTEN locus, and b) detecting increased linkage disequilibrium in at least one haplotype block at the individual's PTEN locus, wherein the haplotype block is selected from the group consisting of a block 1 haplotype, a block 2 haplotype, a block 3 haplotype and a combination thereof, compared to a control, wherein the presence of the increased linkage disequilibrium in the at least one haplotype block is indicative of a diagnosis of PHTS or a susceptibility to PTHS in the individual.