Test description
Single gene testing in family members where a Familial Hypercholesterolaemia variant has already been identified.
Test information
Test name
Familial Hypercholesterolaemia single gene FH test
Clinical indication
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.
Gene(s)
LDLR, PCSK9, APOB, ABCG5, ABCG8, APOE, CYP27A1, LDLRAP1 or LIPA.
Method
Massively parallel sequencing
Turn around time
2 – 3 weeks
Medicare eligibility
Price
If not MBS eligible, please contact 1800 822 999 for details
Test request form
Standard pathology request form
Sample type
Blood
Collection type
6mL EDTA blood
Special instructions