Testing for known family variant for Familial Hypercholesterolaemia
Single gene testing in family members where a Familial Hypercholesterolaemia variant has already been identified.
Familial Hypercholesterolaemia single gene FH test
For patients with a first- or second- degree relative with a confirmed FH-causing pathogenic variant, to determine the presence of that variant in the patient.
LDLR, PCSK9, APOB, ABCG5, ABCG8, APOE, CYP27A1, LDLRAP1 or LIPA.
Massively parallel sequencing
2 – 3 weeks
If not MBS eligible, please contact 1800 822 999 for details
Standard pathology request form
Blood
6mL EDTA blood
