Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study.

ABSTRACT:

Background

Familial hypercholesterolaemia (FH) is a common Mendelian condition which, untreated, results in premature coronary heart disease. An estimated 88% of FH cases are undiagnosed in the UK. We previously validated a method for FH mutation detection in a lipid clinic population using next generation sequencing (NGS), but this did not address the challenge of identifying index cases in primary care where most undiagnosed patients receive healthcare. Here, we evaluate the targeted use of NGS as a potential route to diagnosis of FH in a primary care population subset selected for hypercholesterolaemia.

Methods

We used microfluidics-based PCR amplification coupled with NGS and multiplex ligation-dependent probe amplification (MLPA) to detect mutations in LDLR, APOB and PC

SUBMITTER: Norsworthy PJ 

PROVIDER: S-EPMC4083361 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature