What is an APOE gene test?

An APOE gene test determines which of the variants of the apolipoprotein E (APOE) genotype you carry. Some genotypes for the APOE gene may be associated with a higher risk for developing Alzheimer's disease.

Having a greater-than-average chance of developing a condition does not mean that you will absolutely get that condition. A health risk tells you if you are at a higher risk than most people are to get a condition. There are many factors that put together your health risk, and genetics is only one of them.

A healthcare professional can help you understand your risk as well as what the results of this test mean.

What is the APOE gene?

The APOE gene tells your cells to make apolipoprotein E. This protein binds to fats, called lipids, forming lipoprotein molecules. Lipoproteins carry cholesterol and other fats around your body through your bloodstream.

There are three types (alleles) of the APOE gene:

  • APOE-ε2, also known as APOE2.
  • APOE-ε3, also known as APOE3.
  • APOE-ε4, also known as APOE4.

Everybody inherits one copy of the APOE gene from each biological parent.

The interactions of alleles may increase your vulnerability to certain conditions because of how they affect movement of cholesterol and other lipids within your blood.

Which APOE gene causes Alzheimer's disease?

No specific gene has been identified to directly cause Alzheimer's. Carry at least one copy of the APOE-ε4 gene, you are put at risk for developing Alzheimer's disease. In late-onset Alzheimer's, the disease appears after age 65, and in early-onset Alzheimer's, before reaching 65 years of age. Alzheimer's disease causes gradual memory loss (dementia).

That makes sense because it appears that the APOE-ε2 gene is also neuroprotective for Alzheimer's disease. So if the disease does occur in a person who carries one of these alleles, then it tends to occur later in life than a person who carries one of the APOE-ε4 genes.

How can I be tested for the APOE4 gene?

There is a voluntary APOE gene test. For many, the discovery of their APOE gene was from an at-home genetic test or you requested your healthcare provider discuss it with you if you wanted to understand your risk of developing Alzheimer's disease. You would likely pursue having this test done if you have a biological family history of Alzheimer's disease.

This test is for you if you have Alzheimer's disease because it will inform the doctor what best could be used in your treatment.

The APOE gene test allows researchers to know how to risk this disease among a given population. Researchers will use these tests to compare with brain imaging studies where new and practical treatments are discovered.

What happens during my APOE gene test?

Here is what you can expect when you undergo an APOE gene test:

  • Sample DNA will be drawn from you either through a blood test or cheek swab by your health care provider.
  • The DNA sample sent out to the lab to conduct the test.
  • The lab will analyze your DNA sample and forward the test result to your health care provider.
  • Your health care provider, or a genetic counsellor will personally sit with you to explain the test result and what it means.

For example, if you have an at-home risk assessment test that includes APOE gene information, be sure to follow the package instructions included with the test. They all differ by brand. You can discuss your test results with your doctor when they are returned to you.

What does an APOE test result mean?

An APOE gene test result tells you which type (allele) of the APOE gene you have.

You’re at-home test kit results may appear different from the results reported by your provider. If you have concerns or questions, reach out to the company that completed the test.

Your provider or genetic counsellor will talk with you about what your test results mean. If your risk for developing Alzheimer's is higher, your provider can advise you on how to promote your overall well-being by:

  • Engaging in regular physical activities or exercise.
  • Having enough sleep in order to fulfill your body's demands.
  • Keeping yourself active socially by hanging out with friends and family.
  • Engaging or attempting to solve a puzzle, reading or a novel or learn a new skill. This is a way of challenging your brain.

Your provider can have other recommendations for you according to your health and you.

What does it mean to be APOE4 positive?

APOE4 positive means that you have at least one copy of the APOE4 (APOE-ε4) gene in your DNA.

When do I find out the results of an APOE gene test?

It takes a few days to get the results of the APOE gene test. Your doctor will give you more information about the specific time within your health institution.

Tests done at home usually take weeks to months before receiving your result. The time depends on the company conducting the test.

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