Familial hypercholesterolaemia | Genomic Diagnostics

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

4 – 6 weeks

Medicare eligibility

73352

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