This test uses Next Generation Sequencing (NGS) Technology to look for variants in the genes associated with Familial Hypercholesterolaemia (FH). This consists of screening of all of the coding regions of LDLR, LDLRAP1 and PCSK9, plus NGS dosage analysis to detect exon deletions or duplications in these genes. The LDLR promoter is also included. For APOB, exon 26 is screened only and there is no dosage analysis for this gene.
Referrals for Familial Hypercholesterolaemia usually fulfil the Simon Broome Critieria which takes into account the individual's high cholesterol levels, family history of heart disease and other signs such as tendon xanthoma.
Synonyms or keywords:
FH, APOB, LDLR, LDLRAP1, PCSK9, Autosomal Recessive Hypercholesterolaemia (ARH), Cholesterol