Familial hypercholesterolaemia (FH) NGS gene panel

Diagnostic Use

Coronary Heart Disease (CHD) is a multifactorial and genetically heterogeneous disorder predominantly characterised by blockage of arteries leading to thrombosis and myocardial infarction. Numerous factors contribute to CHD, thus no single test can be expected to establish the risk of CHD. However risk of early CHD in some families is considerably raised by the inheritance of a mutation in either the low density lipoprotein receptor (LDLR) gene or the APOB gene, both of which give rise to familial hypercholesterolaemia (FH), premature onset of atherogenesis and cholesterol deposits in the skin, tendons and corneas. In the majority of FH patients the disorder is caused by a mutation in the LDLR gene that destroys or significantly impairs its proper function. Rare variants in APOE, LDLRAP1, and PCSK9 have also been implicated in FH.

Department

Genetics - Molecular Pathology

Delphic Registration Code

MOLP

Synonyms

APO B mutation analysis
FDB
FH
Hyperlipidemia
LDLR
PCSK9

Turnaround Time

4 weeks