Familial hypercholesterolemia – Targeted whole gene sequencing as a diagnostic approach

• DOI: 10.1016/j.athplu.2024.12.001
• Publication Date: 2024-12-11T17:13:50Z
• Authors: Emma Adolfsson; Nils Johan Fredri...; Jon Jonasson; Anna Nordenskjöld; Anna Green
• Keywords: Genetic testing; Low density lipoprotein receptor; Copy number variation; RC666-701; Full Length Article; Familial hypercholesterolemia; Sequence analysis; Diseases of the circulatory (Cardiovascular) system

Familial hypercholesterolemia (FH) and other disorders with similar features are common genetic that remain underdiagnosed undertreated, due in part to the cost of screening. The aim this study was design implement a whole gene targeted NGS panel for molecular diagnosis FH statin intolerance an emphasis on high quality variant calling, including copy number analysis. A hybridisation-based short read designed dominant FH-genes low density lipoprotein receptor ( sequencing resulted coverage confident calling included genes. Known causal variants were found 43 % cohort. Copy This new tool can be used comprehensive high-quality analysis according guidelines treatment FH.