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Austin Pathology
Test Directory
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Familial Hyperchosterolaemia Genetic Screen
Alternate Names
|
FH, Hypercholesterolemia, LDL receptor, LDLR, PCSK9, APOB genetic test |
Ordering Information
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Please note: Medicare Rebate for this test is subject to conditions. Patients may receive an invoice. Out of pocket cost: >$1000. The following relevant condition(s) must be present and documented on the request or the patient may incur the testing cost: 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. |
Laboratory
|
Referred Test |
MBS Number
|
73352 or 73353 |
Specimen
|
Blood |
Container
|
EDTA (purple) |
Minimum Adult Volume
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3mL |
Minimum Paediatric Volume
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1mL |
Frequency
|
As required |
Reference Interval
|
This is a referred test. Please consult reference interval supplied with result. |
These PDF documents can be downloaded for your reference
Test Code
|
MISCSO |
Container ID
|
S, EWP, CM, SP, EW, CMS, ACD, CR, SWAB |
Storage Instructions
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Store specimen at room temperature |
Additional (Storage) Instructions
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Stability = 3 days Extracted DNA is acceptable. |
Transport Instructions
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Transport at room temperature |
Laboratory Notes
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Instructions for: Heidelberg Sendaways Department
PATHWEST Cardiovascular Genetics Biochemistry Fiona Stanley Hospital Phone: (08) 6152 8128 |
External Laboratory
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Cardiovascular Genetics, PathWest Laboratory Medicine, Fiona Stanley Hospital |