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Test Identifier Information

Registration CodeFHGS

Screening the LDLR gene uses a combination of high resolution melting analysis (HRM), direct DNA sequencing and Multiplex ligation-dependent probe amplification (MLPA).

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.

Since mutations in the ApoB gene also result in hypercholesterolaemia, the FDB screen is also performed on samples for which LDLR testing is requested.

Constituent TestsGenomic DNA Extraction ;
External PriceContact Canterbury Health Laboratories on +64 3 364 0484 or email Labinfo.

Specimen Collection

Pre-Testing Requirements

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

Patient Specimen4.0mL EDTA,
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. Genomic DNA must be extracted from the specimen prior to testing. This incurs an additional charge (see GDNA). Laboratories may prefer to submit DNA for testing. Please provide a minimum of 5 micrograms of DNA at 20 nanograms/microlitre.
  3. For deletion/duplication analysis of this gene refer to MLPA Testing
  4. If storing blood tube prior to delivery please refrigerate at 4 degrees (transport still at ambient temperature).

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