An evaluation of DNA diagnostics for familial hypercholesterolaemia including a study of personal and family implications

Abstract

This study evaluated a molecular diagnostic service for FH in a cohort of patients previously diagnosed on clinical and biochemical grounds. Two techniques for genotyping were established: (i) Amplification Refractory Multiplex System (ARMS) PCR; (ii) Denaturing High Performance Liquid Chromatography (dHPLC). 30 unrelated FH patients (“definite” on Simon Broome Criteria) were tested. Mutations in LDL receptor gene were identified and confirmed by DNA sequencing in 26 patients. Together, these techniques have 87% sensitivity for detecting mutations in the LDLR gene.