Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.

ABSTRACT:

Background

Familial hypercholesterolemia (FH) is a common but underdiagnosed genetic disorder characterized by high low-density lipoprotein cholesterol levels and premature cardiovascular disease. Current sequencing methods to diagnose FH are expensive and time-consuming. In this study, we evaluated the accuracy of a low-cost, high-throughput genotyping array for diagnosing FH.

Methods

An Illumina Global Screening Array was customized to include probes for 636 variants, previously classified as FH-causing variants. First, its theoretical coverage was assessed in all FH variant carriers diagnosed through next-generation sequencing between 2016 and 2022 in the Netherlands (n=1772). Next, the performance of the array was validated in another sample of FH variant carriers previo

SUBMITTER: Ibrahim S 

PROVIDER: S-EPMC10581440 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature