Also known as: Apolipoprotein E Genotyping« Back to test list
The Apolipoprotein E gene (APOE) plays a critical role in lipid metabolism. Variants of this gene are associated with some clinical disorders of lipid metabolism or with clinical outcomes associated with such disorders.
For a patient with increased plasma cholesterol and triglycerides, this test can be a diagnostic test for type III hyperlipoproteinemia as >90% of patients with this condition have two copies of the E2 variant.
The E4 variant is associated with raised low-density lipoproteins (LDL) and has an association with Alzheimer Disease and atherosclerosis.
This is an assay for heritable mutations. It may raise issues of ethics or consent that are different from most other investigations ordered in the routine care of a patient. The interpretation of the result may also be dependent on the family history and the interpretation of other studies.
Analysis of the APOE gene for E2, E3, and E4 variants.
This test can be requested by any medical practitioner.
4 mL blood in EDTA (separate tube required). Specimens may be collected by the requesting practitioner or at any Sonic Healthcare pathology collection centre.
To help ensure the quality of the test, a genetic test should be done with a dedicated sample whenever possible i.e. a sample collected specifically for that test rather than a sample that is used for multiple tests.
We also recommend that the patient or another adult check the labelling of request forms and sample tubes.