Austin Pathology

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Familial Hyperchosterolaemia Genetic Screen

Alternate Names
FH, Hypercholesterolemia, LDL receptor, LDLR, PCSK9, APOB genetic test
Ordering Information

Please note, this test is Medicare rebatable under the following conditions:

Index case testing:

Characterisation of germline variants causing familial hypercholesterolaemia (which must include the LDLR, PCSK9 and APOB genes), requested by a specialist or consultant physician, for a patient: (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 Applicable only once per lifetime

Cascade testing:

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 Applicable only once per lifetime


** The relevant condition(s) must be present and documented on the request or the patient may incur the testing cost (>$1000) **

Referred Test
MBS Number
73352 or 73353
MBS Price
$1200 (73352) or $400 (73353)
EDTA (purple)
Minimum Adult Volume
Minimum Paediatric Volume
As required
Reference Interval

This test is referred to another aboratory. Refer to results report.