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A B C D E F G H I J K L M N O P Q

Test Identifier Information

 
Registration CodeMOLP
Method

Patient DNA is analysed using an Ampliseq-for-Illumina next generation sequencing (NGS) custom panel on an Illumina MiSeq instrument. The panel targets the following genes that have been implicated in familial hypercholesterolaemia: LDLR (NM_000527.4), APOB (NM_000384.2) (exon 26 only), PCSK9 (NM_174936.3), APOE (NM_001302688.1) and LDLRAP1 (NM_015627.2). The LDLR gene is also analysed by Multiplex ligation-dependent probe amplification (MLPA) to detect large-scale insertion or deletion variants.

Diagnostic Use / Indications

Coronary Heart Disease (CHD) is a multifactorial and genetically heterogeneous disorder predominantly characterised by blockage of arteries leading to thrombosis and myocardial infarction. Numerous factors contribute to CHD, thus no single test can be expected to establish the risk of CHD. However risk of early CHD in some families is considerably raised by the inheritance of a mutation in either the low density lipoprotein receptor (LDLR) gene or the APOB gene, both of which give rise to familial hypercholesterolaemia (FH), premature onset of atherogenesis and cholesterol deposits in the skin, tendons and corneas. In the majority of FH patients the disorder is caused by a mutation in the LDLR gene that destroys or significantly impairs its proper function. Rare variants in APOE, LDLRAP1, and PCSK9 have also been implicated in FH.

 

External Price$659.75(Exclusive of GST)
  

Specimen Collection

 
Pre-Testing Requirements

Screening for the FH gene panel is generally only indicated for patients with a total untreated cholesterol level >8mmol/L.

Patient Specimen4.0mL EDTA,(Lavender) blood
Paediatric Specimen0.5 mL 1.0 mL EDTA(Lavender) blood
Sample Delivery to LabAmbient
  

CHLabs Laboratory

 
DepartmentBiochemistry - Molecular Pathology
Contact Details Email Email
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Contact Phone Number03 3640 548
Test Availability9am to 5pm, Monday to Friday
Turnaround TimeWithin 4 weeks
Additional Information
  1. This test requires nucleated cells. Please do not centrifuge or freeze blood samples.
  2. If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).


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