Familial Hypercholesterolaemia


Description

Familial hypercholesterolaemia is an autosomal dominant condition, characterised clinically by elevations in low-density lipoprotein cholesterol, tendon xanthomata and premature coronary heart disease.

Also known as

FH


Request a test

When requesting this test please use the referral form provided. Please also refer to any additional information provided for this test.


Additional information

Next generation sequencing panel of 4 genes. For additional information please click on the link Download additional information >


Sending address

Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
Barclay House
37 Queen Square
London
WC1N 3BH

Laboratory service

Genetics


Sample requirements

5ml EDTA


Reference range

Not applicable


Turnaround time

40 days


Disease / group

LDLR, PCSK9, APOB, LDLRAP1


Cost

Upon request


Call in advance?

Prenatals must be arranged in advance, through a Clinical Genetics department if possible.


Genetics

The Genetics Laboratories provide an extensive range of Cytogenetics and Molecular Genetics diagnostic testing services.

© 2011 Great Ormond Street Hospital for Children NHS Trust