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Laboratory Medicine

Test Directory / Familial Hypercholesterolaemia Gene Testing

Familial Hypercholesterolaemia Gene Testing

EDTA

TestFamilial Hypercholesterolaemia Gene Testing
Common AbbreviationsFH gene testing
ProfileNA
Tube typeEDTA
Clinical IndicationUsed in the diagnosis of familial hypercholesterolaemia. Includes the analysis of LDLR, APOB, PCSK9 and LDLRAP1 genes
Specimen TypeBlood
Sample typeEDTA whole blood
Minimum Volume5mL
Special PrecautionsA completed DNA request card must be sent with the samples.
StabilityContact Referral Laboratory
Turnaround TimeTargeted screen: 2 weeks Full screen: 2 months
LaboratoryNorth East Thames Regional Genetics Service Level 6 Barclay House 37 Queen Square London WC1N 3BH 020 7762 6888
Reference IntervalContact Referral Laboratory
LimitationsContact Referral Laboratory
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Invitation to attend the Trust’s Annual Members Meeting

Trust members and the general public are invited to find out more about their local hospitals by attending the Trust’s virtual Annual Members Meeting (AMM), incorporating the Annual General Meeting (AGM), on Tuesday 26 October 2021, between 11:00am-12:30pm.