Familial Hypercholesterolaemia
Overview
Familial hypercholesterolaemia (FH) is a common, hereditary, autosomal dominant condition causing high cholesterol.
Diagnostic testing: Medicare item number 73352
VCGS offers bulk billed clinical exome sequencing for the characterisation of germline sequence variants associated with familial hypercholesterolaemia in eligible patients. Please note, this testing does not include analysis of copy number variants (CNVs).
VCGS will apply the PanelApp Australia familial hypercholesterolaemia gene panel, which includes the following genes:
ABCG5, ABCG8, APOB, APOE, CYP27A1, LDLR, LDLRAP1, LIPA, LPL, PCSK9
To qualify, testing must be requested by a specialist or consultant physician for clinically affected patients:
(a) for whom no familial mutation has been identified; and
(b) who has any of the following:
(i) a Dutch Lipid Clinic Network score of at least 6;
(ii) an LDL-cholesterol level of at least 6.5 mmol/L in the absence of secondary causes;
(iii) an LDL-cholesterol level of between 5.0 and 6.5 mmol/L with signs of premature or accelerated atherogenesis
This Medicare Item number is applicable only once per lifetime
Cascade testing: Medicare item number 73353
VCGS offers bulk billed detection of a familial mutation for a patient who has a first- or second-degree relative with a documented pathogenic germline gene variant for familial hypercholesterolaemia.
This Medicare Item number is applicable only once per lifetime.
Category
Reporting time
- Diagnostic testing: 12-16 weeks
- Cascade testing: 10-12 weeks
Contacts
Contact us for further information:
P: 1300 118 247
E: [email protected]
Specimen Requirements
- EDTA blood: 4-5ml
- Saliva: saliva kits are available through VCGS.
- DNA extracted from EDTA blood in a NATA accredited clinical laboratory