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Familial Hypercholesterolaemia Genetic Screen
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General
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Clinical Use:
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Full testing includes massively parallel sequencing of cardiometabolic genes with targeted analysis of hypercholesterolaemia genes (LDLR, APOB, PCSK9, APOE, LDLRAP1, LIPA, ABCG5, ABCG8).
Please indicate on the request form the indication for testing.
MBS criteria (index case - full testing)
-Test 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.
MBS criteria (family 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. |
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Availability:
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As required. |
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Aliases/Synonyms:
| FH (Familial Hypercholesterolaemia Genetic Screen), Hypercholesterolaemia (FH Genetic Screening), LDL Receptor Mutation Screening, LDLR (FH Genetic Screening), Sitosterolaemia, |
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Code:
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BFHGS |
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Handling Instructions (to laboratory):
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Send sample ambient. |
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Hyperlink:
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Reference Interval:
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Not Applicable
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Collection Requirements
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Container:
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EDTA (LAVENDER), |
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Sample Type:
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Blood; Extracted DNA |
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Minimum Collection Volume:
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Collection Instructions:
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Processing Requirements
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Alternate Containers:
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Processing Instructions:
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Minimum Assay Volume:
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Stability:
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3 days ambient |
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Transport Instructions (to testing laboratory):
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Send sample ambient. |
Testing Locations
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Performed at:
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Section
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Department
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Site
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Contact Phone
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| Cardiovascular Genetics |
Biochemistry |
Fiona Stanley Hospital |
6152 8128 |
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Last Updated : 07-10-2020 11:13 |