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Dihydropyrimidine Dehydrogenase Genotype
Clinical Genetic Test
Help
offered by
Mayo Clinic Laboratories
View lab's test page
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GTR Test Accession: Help GTR000593360.1
CAP
PHARMACOGENOMICINHERITED DISEASEMETABOLIC DISEASE ... View more
Last updated in GTR: 2021-06-10
View version history
Last annual review date for the lab: 2023-05-30 LinkOut
At a Glance
Test purpose: Help
Drug Response
Conditions (4): Help
Dihydropyrimidine dehydrogenase deficiency; Capecitabine response; Fluoropyrimidine response; ...
Genes (1): Help
DPYD (1p21.3)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: SNP Detection
Target population: Help
Individuals needing preemptive or reactive genotyping for pharmacogenomic purposes.
Clinical validity: Help
Not provided
Clinical utility: Help
Guidance for selecting a drug therapy and/or dose
Ordering Information
Offered by: Help
Mayo Clinic Laboratories
View lab's website
View lab's test page
Test short name: Help
DPYDQ
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 Thoreson, MS, 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/610052
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: 4
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
SNP Detection
QuantStudio 12K Flex
Clinical Information
Test purpose: Help
Drug Response
Clinical utility: Help
Guidance for selecting a drug therapy and/or dose
View citations (1)
  • Amstutz U, Henricks LM, Offer SM, Barbarino J, Schellens JHM, Swen JJ, Klein TE, McLeod HL, Caudle KE, Diasio RB, Schwab M. Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Dihydropyrimidine Dehydrogenase Genotype and Fluoropyrimidine Dosing: 2017 Update. Clin Pharmacol Ther. 2018;103(2):210-216. doi:10.1002/cpt.911. Epub 2017 Nov 20. PMID: 29152729.

Target population: Help
Individuals needing preemptive or reactive genotyping for pharmacogenomic purposes.
View citations (2)
  • Amstutz U, Henricks LM, Offer SM, Barbarino J, Schellens JHM, Swen JJ, Klein TE, McLeod HL, Caudle KE, Diasio RB, Schwab M. Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Dihydropyrimidine Dehydrogenase Genotype and Fluoropyrimidine Dosing: 2017 Update. Clin Pharmacol Ther. 2018;103(2):210-216. doi:10.1002/cpt.911. Epub 2017 Nov 20. PMID: 29152729.
  • U.S. Food and Drug Administration (FDA): Table of Pharmacogenomic Biomarkers in Drug Labeling. FDA; Updated June 2020, Accessed May 6, 2021. Available at: www.fda.gov/drugs/scienceresearch/researchareas/pharmacogenetics/ucm083378.htm
Variant Interpretation:
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?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
Genomic DNA is extracted from whole blood or saliva. Genotyping for DPYD alleles is performed using a PCR-based 5'-nuclease assay. Fluorescently labeled detection probes anneal to the target DNA. PCR is used to amplify the section of DNA that contains the variant. If the detection probe is an exact match … View more
Test Confirmation: Help
Positive results are confirmed when appropriate.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Accuracy and analytical sensitivity for targeted simple variant(s) (SNVs and INDELs): (>99%).
Assay limitations: Help
Rare genetic variants may be present that could lead to false-negative or false-positive results. Other variants in the primer binding regions can affect the testing, and ultimately, the genotype assessment made. Samples may contain donor DNA if obtained from patients who received heterologous blood transfusions or allogeneic blood or marrow … 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:
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.