Test Code APOEG Apolipoprotein E Genotyping, Blood
Useful For
Determining the specific apolipoprotein E (APOE) genotypes in individuals with type III hyperlipoproteinemia
Determining the specific apolipoprotein E (APOE) genotypes that may increase risk for amyloid related imaging abnormalities in individuals being treated for Alzheimer disease with B-amyloid-targeting antibodies
APOE genotyping has been used to assess susceptibility for Alzheimer disease. However, the use of APOE analysis for predictive testing for Alzheimer disease is not currently recommended by the American College of Medical Genetics due to limited clinical utility and poor predictive value.
Method Name
Polymerase Chain Reaction (PCR) including Restriction Digest
Reporting Name
Apolipoprotein E Genotyping, BSpecimen Type
VariesShipping Instructions
Specimen preferred to arrive within 96 hours of collection.
Specimen Required
Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.
Specimen Type: Whole blood
Container/Tube:
Preferred: Lavender top (EDTA) or yellow top (ACD)
Acceptable: Any anticoagulant
Specimen Volume: 3 mL
Collection Instructions:
1. Invert whole blood several times to mix blood. Do not aliquot.
2. Send specimen in original tube.
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Varies | Ambient (preferred) | ||
Frozen | |||
Refrigerated |
Interpretation
An interpretive report will be provided.
Clinical Reference
1. Smelt AH, de Beer F. Apolipoprotein E and familial dysbetalipoproteinemia: Clinical, biochemical, and genetic aspects. Semin Vasc Med. 2004;4(3):249-257
2. Utermann G. Morgagni lecture: genetic polymorphism of apolipoprotein E-impact on plasma lipoprotein metabolism. In: Crepaldi G, Tiengo A, Baggio G (eds). Diabetes, Obesity and Hyperlipidemias 3: Proceedings of the 4th European Symposium on Metabolism. 1985. Elsevier; 1-28
3. Elosua R, Ordovas JM, Cupples LA, et al. Association of APOE genotype with carotid atherosclerosis in men and women: the Framingham Heart Study. J Lipid Res. 2004;45(10):1868-1875
4. Poirier J, Davignon J, Bouthillier D, et al. Apolipoprotein E polymorphism and Alzheimer's disease. Lancet. 1993;342(8873):697-699
5. Farrer L, Cupples A, Haines J, et al. Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease: a meta-analysis. JAMA. 1997;278(16):1349-1356
6. Goldman JS, Hahn SE, Catania JW, et al. Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors. Genet Med. 2011;13(6):597-605
7. American College of Medical Genetics and Genomics: Five things physicians and patients should question. Choosing Wisely; 2015. Updated July 1, 2021. Accessed October 27, 2021. Available at www.choosingwisely.org/societies/american-college-of-medical-genetics-and-genomics/
8. Filippi M, Cecchetti G, Spinelli EG, Vezzulli P, Falini A, Agosta F. Amyloid-Related Imaging Abnormalities and B-Amyloid-Targeting Antibodies: A Systematic Review. JAMA Neurol. 2022;79(3):291-304
Day(s) Performed
Tuesday, Thursday
Report Available
6 to 7 daysPerforming Laboratory
Mayo Clinic Laboratories in RochesterCPT Code Information
81401-APOE (apolipoprotein E) (eg, hyperlipoproteinemia type III, cardiovascular disease, Alzheimer disease), common variants (eg, *2, *3, *4)
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
APOEG | Apolipoprotein E Genotyping, B | 42315-2 |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
53198 | Result Summary | 50397-9 |
53199 | Result | 42315-2 |
53200 | Interpretation | 69047-9 |
53201 | Reason for Referral | 42349-1 |
53202 | Specimen | 31208-2 |
53203 | Source | 31208-2 |
53204 | Released By | 18771-6 |
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.Special Instructions
Forms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file.
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Molecular Genetics: Neurology Patient Information
3. If not ordering electronically, complete, print, and send a Neurology Specialty Testing Client Test Request (T732) with the specimen.
Specimen Minimum Volume
1 mL