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Test Code APOEG Apolipoprotein E Genotyping, Blood

Important Note

When a provider requests Apolipoprotein with a "Dementia" diagnosis. Order this test.

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, B

Specimen Type

Varies


Shipping 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 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT 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.

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