Article

Cascade screening amplifies familial hypercholesterolaemia detection after clinically guided next- generation sequencing

2026-08-12

Abstract excerpt

<title>Abstract</title> <p>Familial hypercholesterolaemia (FH) remains substantially underdiagnosed despite being a major preventable cause of premature atherosclerotic cardiovascular disease. We evaluated a real-world regional FH detection pathway integrating Dutch Lipid Clinic Network (DLCN)-based clinical pre-selection, targeted next-generation sequencing and family cascade screening. Between 2017 and 2024, 19...

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Literature Corpus work: d2d7570e-edcb-5303-949a-fa2d0eaeb280
DOI: 10.21203/rs.3.rs-9741525/v1

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