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Study found that comprehensive genetic analysis is the most effective test for detecting familial hypercholesterolaemia in terms of sensitivity and quality-adjusted life-year (QALY) gain, and is also highly cost-effective, with Elucigene FH20 and LIPOchip also cost-effective but at the expense of large QALY losses because of inferior sensitivity compared with comprehensive genetic analysis.
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P Sharma, D Boyers, C Boachie, F Stewart, Z Miedzybrodzka, W Simpson, M Kilonzo, P McNamee & G Mowatt.
P Sharma 1,*, D Boyers 1,2, C Boachie 1, F Stewart 1, Z Miedzybrodzka 3, W Simpson 4, M Kilonzo 2, P McNamee 2, G Mowatt 1
1 Health Services Research Unit, Institute of Applied Health Sciences, University of Aberdeen, Aberdeen, UK
2 Health Economics Research Unit, Institute of Applied Health Sciences, University of Aberdeen, Aberdeen, UK
3 Clinical Genetics Centre, University of Aberdeen, Aberdeen, UK
4 Clinical Biochemistry Laboratory, NHS Grampian, Aberdeen, UK
* Corresponding author Email: p.sharma@abdn.ac.uk
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