Genetic testing for familial hypercholesterolemia in Quebec, Canada: a single-centre retrospective cohort study.

ABSTRACT:

Background

Familial hypercholesterolemia (FH) is associated with premature atherosclerotic cardiovascular disease caused by elevated low-density lipoprotein cholesterol (LDL-C) levels. We determined the impact of a full next-generation sequencing (NGS) genetic panel on reclassification of patients with a clinical diagnosis of FH in Quebec compared to the partial genetic panel currently offered by the Quebec Ministère de la Santé et des Services sociaux (Ministry of Health and Social Services) (MSSS), which includes 11 variants that are common in French Canadians.

Methods

We conducted a retrospective cohort study in a subgroup of patients in the Canadian FH Registry seen at the McGill University Health Centre Preventive Cardiology/Lipid Clinic, Montréal, between September 201

SUBMITTER: Guerin A 

PROVIDER: S-EPMC10449021 | biostudies-literature | 2023 Jul-Aug

REPOSITORIES: biostudies-literature