Article
Diagnosis of familial hypercholesterolemia in general practice using clinical diagnostic criteria or genetic testing as part of cascade genetic screening.
Community genetics - 1 Jan 2008
Leren Trond P, Finborud Tora Himle, Manshaus Turid E, Ose Leiv, Berge Knut Erik
Abstract excerpt
BACKGROUND: Too few familial hypercholesterolemia (FH) patients are diagnosed. The most cost-effective strategy to diagnose FH is to examine first-degree relatives of already diagnosed patients. This is referred to as cascade genetic screening. METHODS AND RESULTS: One thousand eight hundred and five first-degree relatives of index patients with molecularly defined FH consented to cascade genetic screening by the...
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