Test description
Familial hypercholesterolaemia (FH) is characterised by very high levels of LDL cholesterol, leading to an increased risk of coronary heart disease (CHD) at an early age. Early and aggressive treatment with high doses of potent statins or statin combination therapy to lower LDL cholesterol significantly reduces CHD morbidity and mortality for people with FH.
Test information
Test name
Familial Hypercholesterolaemia (FH)
Clinical indication
In the investigation of individuals with very high levels of LDL
Gene(s)
LDLR, PCSK9, APOB, ABCG5, ABCG8, APOE, CYP27A1, LDLRAP1 and LIPA.
Method
Massively parallel sequencing plus MLPA for LDLR
Turn around time
3 – 4 weeks
Medicare eligibility
Price
If not MBS eligible, please contact 1800 822 999 for pricing details
Test request form
Standard pathology request form
Sample type
Blood
Collection type
6mL EDTA tube
Special instructions
None