Cardiovascular Disease Risk (APOE) DNA Testing:

Find out if you are at increased risk

  • Cardiovascular diseases are conditions that affect the blood vessels and can lead to chest pain, heart attacks and strokes
  • Your APOE genotype could put you at risk of high cholesterol or hyperlipoproteinemia – both increasing the risk of cardiovascular disease
  • Early diagnosis and treatment can help prevent cardiovascular disease
  • Simple mouth swab DNA test with results in 1 – 2 weeks
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What is Cardiovascular Disease Risk (APOE) DNA Testing?

The three most common alleles of APOE are e2, e3 and e4 and each produce a slightly different version of the ApoE protein. This cardiovascular disease (APOE) DNA test is able to determine what APOE alleles an individual has. This genotype provides an indication of cardiovascular disease risk and also the best treatment option to reduce this risk.

  • APOE e2 – The e2 allele is associated with lower LDL-cholesterol levels, but an increased risk for hyperlipoproteinemia type III (in homozygotes). If a person with this allele has high blood cholesterol, they may not respond very effectively to a low-fat diet, but statins are generally an effective treatment option.
  • APOE e3 — The common e3 allele is a neutral allele and is not associated with elevated LDL-cholesterol or hyperlipoproteinemia type III. If a person with this allele has high blood cholesterol, they will benefit from a low-fat diet and statins are also generally an effective treatment option.
  • APOE e4 — The e4 allele is associated with an increased risk of cardiovascular disease due to elevated LDL-cholesterol levels. If a person with this allele has high blood cholesterol, they will benefit from adapting a low-fat diet, but statins are unlikely to be an effective treatment option.

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Step-by-Step

The kit can be ordered online, by fax or mail, or by phone. Once you place the order, the testing kit will be shipped directly to you. The kit contains swabs called “buccal swabs”. DNA is collected quickly and easily by rubbing the swabs inside your mouth against the cheek for 30 seconds. Once the DNA is collected, the swabs are placed into the specimen container provided in the kit and returned to the laboratory for testing using the return package included in the testing kit. Once your samples arrive at the laboratory, testing begins immediately and results are available in 1 to 2 weeks.

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Symptoms of Cardiovascular Disease

Elevated LDL-Cholesterol Levels:

High cholesterol is often a “silent” condition as there may be no early warning of the fatty deposits and plaques until serious complications occur (e.g. heart attack).

  • Fatty deposits inside blood vessels
  • Plaques (scars from fat deposit build up)
  • Atherosclerosis (hardening of the arteries due to plaques clogging the arteries)
  • Angina (chest pain)
  • Peripheral vascular disease causing pain in extremities (e.g. calves)
  • Myocardial infarction (heart attack)
  • Atherothrombotic stroke (blockage in the brain due to blood clot forming on a plaque)
  • Cerebral embolism (blockage in the brain due to a wandering clot or piece of plaque)

Hyperlipoproteinemia Type III:

Hyperlipoproteinemia symptoms vary between individuals and some people may not show any symptoms at all. Often a secondary factor (genetic or environmental) is required before symptoms appear.

  • Plaques, atherosclerosis, angina, peripheral vascular disease, heart and stroke risks (as per the symptoms of elevated LDL-cholesterol)
  • Xanthomas (lipid deposits forming yellow bumps on, or just beneath, the skin)
  • Xanthoma striata palmaris (xanthomas on the palms of the hands)
  • Arcus lidus corneae (fatty deposits within the corneas)
  • Hepatosplenomegaly (enlarged liver or spleen)
  • Pancreatitis (inflammation of the pancreas causing back pain, diarrhea, jaundice and sometimes diabetes)

Frequently Asked Questions

Avada Admin

The Disease

If my parents or grandparents have cardiovascular disease, am I at an increased risk? How common is cardiovascular disease?

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Avada Admin

The Test

What is the APOE gene? What cardiovascular disorder is the APOE e4 allele associated with? What cardiovascular disorder is the APOE e2 allele associated with?

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Avada Admin

The Results

How will I receive my results? How long will testing take? What are the possible results and what are the interpretations for each result type?

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Get Started

Patients

Are you ready to get started? Print out this form and take it to your next doctor’s appointment to initiate a conversation with your doctor about Horizon carrier screening.

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Cardiovascular Disease Learning Center

What is Apolipoprotein E?

Apolipoproteins are proteins that have binding affinity for lipids to form packages called lipoproteins. They are responsible for transporting lipids through the lymphatic and circulatory systems. The APOE gene encodes the Apolipoprotein E protein, which [...]

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