APOE Genotyping, Alzheimer Disease

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Formal name: Apolipoprotein E Genotyping
Related tests: Tau/Aß42, PSEN1

Were you looking instead for APOE genotyping ordered to evaluate for cardiovascular disease? If so, see APOE Genotyping, Cardiovascular Disease.

At a Glance

Why Get Tested?

APOE genotyping is not widely used. The clinical usefulness of this test is still being researched, but it may be used as an aid in the diagnosis of probable late onset Alzheimer disease (AD) in a symptomatic adult

When to Get Tested?

When you have progressive symptoms of dementia and your health practitioner wants to determine the likelihood that this is due to AD

Sample Required?

A blood sample drawn from a vein in your arm

Test Preparation Needed?

None

The Test Sample

What is being tested?

Apolipoprotein (Apo) E is produced under the direction of the APOE gene and is one of five main types of blood lipoproteins (A-E). This test evaluates a person's DNA to determine what combination of APOE forms (genotype) is present. The APOE gene exists in three different forms (alleles) – e2, e3, and e4 – with e3 being the most common allele, found in 60% of the general population. Everyone inherits a pair of APOE genes that is some combination of these three.

APOE e4 has been associated with an increased risk of late onset Alzheimer disease (AD), that is AD that develops after the age of 65. This effect is additive in that one copy of e4 (e2/e4 or e3/e4) carries some increased risk and two copies of e4 (e4/e4) are associated with an even greater risk of developing AD. It is important to note, however, that this risk is only relative. Most individuals with APOE e4 will never develop AD and there are many people with AD who are e4 negative.

How is the sample collected for testing?

A blood sample is obtained by inserting a needle into a vein in the arm.

NOTE: If undergoing medical tests makes you or someone you care for anxious, embarrassed, or even difficult to manage, you might consider reading one or more of the following articles: Coping with Test Pain, Discomfort, and Anxiety, Tips on Blood Testing, Tips to Help Children through Their Medical Tests, and Tips to Help the Elderly through Their Medical Tests.

Another article, Follow That Sample, provides a glimpse at the collection and processing of a blood sample and throat culture.

Is any test preparation needed to ensure the quality of the sample?

No test preparation is needed.

The Test

Common Questions

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Article Sources

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NOTE: This article is based on research that utilizes the sources cited here as well as the collective experience of the Lab Tests Online Editorial Review Board. This article is periodically reviewed by the Editorial Board and may be updated as a result of the review. Any new sources cited will be added to the list and distinguished from the original sources used.

Sources Used in Current Review

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