Apolipoprotein E (APOE) Genotyping, Cardiovascular Risk
Order Name
APO E MUT
Test Number: 2015053
Revision Date 12/05/2025
Test Number: 2015053
Revision Date 12/05/2025
| Test Name | Methodology | LOINC Code |
|---|---|---|
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Apolipoprotein E (APOE) Genotyping, Cardiovascular Risk
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Illumina SNP Array | See Notes |
| SPECIMEN REQUIREMENTS | ||||
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| Specimen | Specimen Volume (min) | Specimen Type | Specimen Container | Transport Environment |
| Preferred | 4.5 mL | Whole Blood | EDTA (Lavender Top) | Refrigerated |
| Instructions | Specimen: Whole blood from One 4.5mL adult tube Lavender-top (EDTA). Keep Refrigerated, Do Not Spin. Collection: Invert tube immediately eight to 10 times once tube is filled at time of collection. Stability Requirements: Room temperature 3 days for whole blood; Refrigerated 60 days; Frozen n/a Cause for Rejection: Wrong specimen container; mislabeled specimen |
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| GENERAL INFORMATION | |||||||||||||||||||||||||
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| Expected TAT | 5-7 Days | ||||||||||||||||||||||||
| Clinical Use | Apolipoprotein E (apoE) is a component of several lipoproteins. There are three main apoE isoforms reflecting three alleles (E2, E3 and E4), of which E3 is the most common. The APOE genotype E2/E2 is present in approximately 1% of the population and predisposes to type III hyperlipoproteinemia (dysbetalipoproteinemia). Type III hyperlipoproteinemia involves abnormal build-up in the blood of remnant chylomicrons and VLDL particles (collectively called B-VLDL) containing cholesterol and triglycerides. Excess B-VLDL is taken up in blood vessel walls and can lead to atherosclerosis. Therefore, individuals with type III hyperlipoproteinemia have high total serum cholesterol, LDL and triglycerides. The main clinical manifestation is premature atherosclerosis, leading to coronary artery disease or peripheral vascular disease. However, some patients may be asymptomatic. Only 1% to 5% of individuals with the E2/E2 genotype develop type III hyperlipoproteinemia. However, the E2/E2 genotype is present in 95% of individuals with type III hyperlipoproteinemia and is diagnostic of the disorder in individuals with the appropriate lipid profile. A number of secondary factors are known to provoke type III hyperlipoproteinemia in individuals with the E2/E2 genotype, including glucose intolerance, diabetes mellitus, hypothyroidism, obesity, low estrogen levels and excessive alcohol intake. | ||||||||||||||||||||||||
| Notes |
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| CPT Code(s) | 81401 | ||||||||||||||||||||||||
| Internal Comments | 10/6/17 update link spec proc- JK 4/15/21 updated processing - JK 10/1/22 jk 12/5/25 changed 503935 to 125561 JK Notes: 0.5 mL (Note: This volume Does NOT allow for repeat testing) Specimen Type: Lavender-top (EDTA) tube (PREFERRED) or yellow-top (ACD) tube Specimen Storage: Maintain specimen at room temperature. Stability: Room temperature up to 8 days Specimen Collection: Not Available Special Instructions: Testing is performed at Esoterix Coagulation Laboratory UY#300977 This test is not recommended for nonsymptomatic patients under 18 years of age. Hyperlipoproteinemia III (HPL III) is characterized by increased cholesterol and triglyceride levels, presence of B-VLDL, xanthomas, and premature vascular disease including coronary heart disease (CHD) and peripheral artery disease. Click here for Molecular Pre-Authorization information. |
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| Lab Section | Reference Lab | ||||||||||||||||||||||||