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Apolipoprotein E (apoE) is a component of several lipoproteins. There are three main apoE isoforms reflecting three alleles (E2, E3 and E4), of which E3 is the most common. The APOE genotype E2/E2 is present in approximately 1% of the population and predisposes to type III hyperlipoproteinemia (dysbetalipoproteinemia).

Specimen Type: Whole Blood

Collection Container: Lavender Top (EDTA)

Desired Specimen Volume: 4 mL

1. Collect 2 lavender top (EDTA) tubes via venipuncture.
2. Invert tubes immediately after collection.

1. Transport whole blood in the original collection containers.

Transport to the laboratory refrigerated. 

See patient report.

APOE E2, E3 and E4 are validated for this analysis. The rare APOE E1/E1, E1/E2 and E1/E3 genotypes are reported as failed results. E2/E4 and E1/E3 genotypes cannot be distinguished by this assay. Molecular-based testing is highly accurate, but as in any laboratory test, rare errors may occur. False positive or false negative results may occur for reasons that include genetic variants, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, rare technical errors, mislabeled samples or erroneous representation of family relationships.

Approximately 95% of individuals with type III hyperlipoproteinemia have the E2/E2 genotype. The remainder have rare pathogenic variants in the APOE gene, some of which are not detectable by this APOE genotype test. This test cannot detect genetic abnormalities elsewhere in the genome.

• APOE Genotyping: Cardio Risk