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Web based tools to assess eligibility for genetic testing for Familial Hypercholesterolaemia (FH)

Ashfield-Watt, Pauline Annie L., Haralambos, Kate, Sharif, B., Edwards, R., Gingell, R., Townsend, D., Datta, D. and McDowell, Ian Frederick 2016. Web based tools to assess eligibility for genetic testing for Familial Hypercholesterolaemia (FH). Atherosclerosis 245 , e245. 10.1016/j.atherosclerosis.2015.10.033

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Abstract

Selection of patients who are appropriate for genetic testing for FH is a balance between diagnostic yield and cost. The Wales FH service has implemented a clinical scoring system to guide the selection of patients based on lipid levels, personal and family history of cardiovascular disease plus physical signs. In an evaluation of 623 patients referred to lipid clinics, the proportion of patients with a mutation ranged from 4% in those scoring 5 or less to 85% in those scoring >15.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: Q Science > QH Natural history > QH426 Genetics
R Medicine > R Medicine (General)
R Medicine > RZ Other systems of medicine
Publisher: Elsevier
ISSN: 0021-9150
Last Modified: 23 Aug 2019 21:29
URI: http://orca-mwe.cf.ac.uk/id/eprint/87089

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