Classic view of this page
Apolipoprotein E Genotyping, Blood
Clinical Genetic Test
Help
offered by
Mayo Clinic Laboratories
View lab's test page
LinkOut
GTR Test Accession: Help GTR000593150.1
CAP
INHERITED DISEASEMETABOLIC DISEASENERVOUS SYSTEM ... View more
Last updated in GTR: 2021-05-24
View version history
Last annual review date for the lab: 2023-05-30 LinkOut
At a Glance
Test purpose: Help
Risk Assessment
Conditions (2): Help
Alzheimer disease 2; Familial type 3 hyperlipoproteinemia
Genes (1): Help
APOE (19q13.32)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: PCR
Target population: Help
Individuals with clinical features of type III hyperlipoproteinemia or Alzheimer …
Clinical validity: Help
Not provided
Clinical utility: Help
Predictive risk information for patient and/or family members
Ordering Information
Offered by: Help
Mayo Clinic Laboratories
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Lab contact: Help
Emily Lauer, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
gcmolgen@mayo.edu
1-800-533-1710
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
https://www.mayocliniclabs.com/test-catalog/Specimen/35358
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Test strategy
Conditions Help
Total conditions: 2
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument
Targeted variant analysis
PCR
Other
Clinical Information
Test purpose: Help
Risk Assessment
Clinical utility: Help
Predictive risk information for patient and/or family members
View citations (1)
  • Apolipoprotein E and familial dysbetalipoproteinemia: clinical, biochemical, and genetic aspects. Smelt AH, et al. Semin Vasc Med. 2004;4(3):249-57. doi:10.1055/s-2004-861492. PMID: 15630634.

Target population: Help
Individuals with clinical features of type III hyperlipoproteinemia or Alzheimer disease
View citations (2)
  • Apolipoprotein E and familial dysbetalipoproteinemia: clinical, biochemical, and genetic aspects. Smelt AH, et al. Semin Vasc Med. 2004;4(3):249-57. doi:10.1055/s-2004-861492. PMID: 15630634.
  • Apolipoprotein E polymorphism and Alzheimer's disease. Poirier J, et al. Lancet. 1993;342(8873):697-9. doi:10.1016/0140-6736(93)91705-q. PMID: 8103819.
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Decline to answer.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
No. The laboratory encourages health care providers to contact the laboratory at any time to learn how the status of a particular variant may have changed over time.
Research:
Is research allowed on the sample after clinical testing is complete? Help
Research testing is only performed under IRB approved protocol with an opt-out policy in place.
Recommended fields not provided:
Clinical validity, What is the protocol for interpreting a variation as a VUS?, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
A PCR-based assay, which includes HhaI digestion of the amplified product, is utilized to identify the 3 most common apolipoprotein E alleles (e2, e3, e4).
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Accuracy ≥ 99%
Assay limitations: Help
This assay will not detect all of the mutations that cause type III hyperlipoproteinemia. Therefore, the absence of a detectable mutation does not rule out the possibility that an individual is a carrier of or affected with this disease. This assay cannot predict or rule out the development of Alzheimer … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Test Confirmation, Citations to support assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.