Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia

Familial hypercholesterolemia (FH) is a frequently underdiagnosed genetic condition characterized by elevated low-density lipoprotein cholesterol levels and early cardiovascular disease. Traditional FH diagnosis methods are costly and time-consuming. A recent study assessed the accuracy of an affordable, high-throughput genotyping array customized with 636 FH-associated variants. The array demonstrated 94.7% sensitivity, rising to 98.2% when excluding variants not on the array. Additionally, copy number variation analysis achieved an 89.4% sensitivity. Although some false positives were noted, this genotyping array holds promise for cost-effective FH diagnosis and may enhance genetic testing accessibility.