Apolipoprotein E (APOE) Genotyping, Cardiovascular Risk
Also known as: APOE CR
Use
The Apolipoprotein E (APOE) Genotyping test is used to provide supporting evidence for a diagnosis of type III hyperlipoproteinemia, which 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. Greater than 90 percent of those affected by HPL III are homozygous for the e2 allele. The test aids in evaluating the risk of premature coronary heart disease.
Special Instructions
Counseling and informed consent are recommended for genetic testing. Informed Consent for Genetic Testing is required for NY patients, and consent forms are available online. Not recommended for non-symptomatic patients under 18 years of age.
Limitations
Only the e2, e3, and e4 variants will be detected. Rare isoforms of APOE will not be detected; phenotyping by isoelectric focusing may be indicated if rare alleles are suspected. Diagnostic errors can occur due to rare sequence variations. The test was developed and performance characteristics determined by ARUP Laboratories; it has not been cleared or approved by the US Food and Drug Administration. It is performed in a CLIA certified laboratory intended for clinical purposes.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
LOINC Codes
- 31208-2
- 34438-2
Result Turnaround Time
2-7 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender (EDTA), Pink (K2EDTA), or Yellow (ACD Solution A or B).
Storage Instructions
Refrigerated.
Causes for Rejection
Plasma or serum. Heparinized specimens. Frozen specimens in glass collection tubes.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | 1 month |