Article
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.
Circulation. Genomic and precision medicine - 1 Oct 2023
Ibrahim Shirin, van Rooij Jeroen, Verkerk Annemieke J M H, de Vries Jard, Zuurbier Linda, Defesche Joep, Peter Jorge, Schonck Willemijn A M, Sedaghati-Khayat Bahar, Kees Hovingh G, Uitterlinden André G, Stroes Erik S G, Reeskamp Laurens F
Abstract excerpt
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...
Topics
- Humans
- Proprotein Convertase 9
- Cholesterol, LDL
- Genetic Variation
- Genotype
- DNA Copy Number Variations
- Hyperlipoproteinemia Type II