Apolipoprotein E Polymorphism - APOE Haplotypes (E2/E3/E4)
Understand your inherited cholesterol and Alzheimer's risk profile.
Apolipoprotein E (APOE) is a gene that provides instructions for making a protein involved in the transport and metabolism of cholesterol and other lipids in the body. APOE has several common polymorphisms, or variations, that affect its function.
This test uses Real-Time PCR to detect the three most common APOE polymorphisms: ε2, ε3, and ε4. These polymorphisms affect the structure of the APOE protein and can have different effects on lipid metabolism and risk for certain diseases.
The Three Alleles
- ε3 — The most common variant, considered to have a neutral effect on lipid metabolism and disease risk.
- ε2 — Associated with lower levels of low-density lipoprotein (LDL) cholesterol, but also with an increased risk for type 3 hyperlipoproteinemia, a rare lipid disorder.
- ε4 — Associated with higher levels of LDL cholesterol and an increased risk for cardiovascular disease, Alzheimer's disease, and other neurological disorders.
The Six Genotypes and Associated Risks
| Genotype — | Cardiovascular — | Alzheimer |
|---|---|---|
| E2/E2 | Low risk | Low risk |
| E2/E3 | Low risk | Below average risk |
| E2/E4 | Mixed | Increased risk |
| E3/E3 | Neutral | Average risk |
| E3/E4 | Increased risk | ~3× average risk |
| E4/E4 | High risk | ~8–12× average risk |
ApoE Haplotypes (E2/E3/E4)
No special preparation required.
For blood tests, we recommend drinking plenty of water beforehand to ensure smooth sample collection. If you are taking any regular medication, continue to do so unless advised otherwise by your doctor.
Important Clinical Information:
This test is a screening tool to monitor and support your overall health. It does not replace your GP or Consultant.
Always discuss your test results, especially any abnormal results, with your GP, who can interpret them in the context of your medical history and overall health.
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Includes £15 phlebotomy fee
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