APOE Alzheimer's Disease Risk

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Alzheimer's disease is a progressive neurodegenerative disorder that affects more than 6.7 million Americans ages 65 and older and is the most common form of dementia in the elderly. Signs and symptoms may include cognitive decline, memory loss, loss of problem-solving skills and personality changes. Clinical symptoms appear after 60-65 years in 95% of cases. The development of late-onset disease may be influenced by age, sex, family history, level of education, history of head trauma and other factors including cardiovascular risk factors. Approximately 15-20% of late-onset disease may be familial. The APOE gene is a known susceptibility gene for Alzheimer's disease. The APOE gene encodes apolipoprotein E, which has a role in lipid metabolism. APOE has three common alleles: E2, E3 and E4. The presence of the E4 allele increases the lifetime risk of Alzheimer's disease but is neither necessary nor sufficient for the development of Alzheimer's disease. APOE E2 may have some protective effect against development of late-onset disease.¹ APOE also has a rate allele: E1 (legacy name E3r). There is insufficient evidence to assess the clinical association of APOE E1 with Alzheimer's disease.²

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, mislabeled samples or erroneous representation of family relationships. This test was developed and its performance characteristics determined by Labcorp.

Illumina SNP Array