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) **

Laboratory
Referred Test
MBS Number
73352 or 73353
MBS Price
$1200 (73352) or $400 (73353)
Specimen
Blood
Container
EDTA (purple)
Minimum Adult Volume
3mL
Minimum Paediatric Volume
1mL
Frequency
As required
Reference Interval

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