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


Sending address

Rare & Inherited Disease Laboratory
London North Genomic Laboratory Hub
Great Ormond Street Hospital for Children
Levels 4-6 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