Article
Clinical experience of scoring criteria for Familial Hypercholesterolaemia (FH) genetic testing in Wales.
Atherosclerosis - 1 May 2015
Haralambos K, Whatley S D, Edwards R, Gingell R, Townsend D, Ashfield-Watt P, Lansberg P, Datta D B N, McDowell I F W
Abstract excerpt
BACKGROUND/OBJECTIVE: Familial Hypercholesterolaemia (FH) is caused by mutations in genes of the Low Density Lipoprotein (LDL) receptor pathway. A definitive diagnosis of FH can be made by the demonstration of a pathogenic mutation. The Wales FH service has developed scoring criteria to guide selection of patients for DNA testing, for those referred to clinics with hypercholesterolaemia. The criteria are based on...
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