Classic view of this page
DPYD Genotyping
Clinical Genetic Test
Help
offered by
Sanford Medical Genetics Laboratory
View lab's test page
LinkOut
GTR Test Accession: Help GTR000613417.1
CAP
PHARMACOGENOMICINHERITED DISEASEMUSCULOSKELETAL ... View more
Registered in GTR: 2024-10-24
View version history
Last annual review date for the lab: 2024-10-24 LinkOut
At a Glance
Test purpose: Help
Drug Response
Conditions (4): Help
Capecitabine response; Dihydropyrimidine dehydrogenase deficiency; Fluoropyrimidine response more...
Genes (1): Help
DPYD (1p21.3)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: SNP Detection
Target population: Help
Individuals with a need for preemptive or reactive pharmacogenetic testing
Clinical validity: Help
Not provided
Clinical utility: Help
Guidance for selecting a drug therapy and/or dose
Ordering Information
Offered by: Help
Sanford Medical Genetics Laboratory
View lab's test page
Test short name: Help
DPYD
Specimen Source: Help
  • Peripheral (whole) blood
Who can order: Help
  • Health Care Provider
Test Order Code: Help
LBOR0149
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

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
Call Sanford Client support at (605) 328-5495
Order URL
Informed consent required: Help
Based on applicable state law
Test strategy: Help
DPYD tested for specific alleles based on CPIC guidelines
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Lab contact for this test, Test development
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
* Instrument: Not provided
Clinical Information
Test purpose: Help
Drug Response
Clinical utility: Help
Guidance for selecting a drug therapy and/or dose
View citations (2)
  • Clinical Pharmacogenetics Implementation Consortium. Accessed May 14, 2021. https://cpicpgx.org/
  • https://cpicpgx.org/

Target population: Help
Individuals with a need for preemptive or reactive pharmacogenetic testing
Recommended fields not provided:
Clinical validity, What is the protocol for interpreting a variation as a VUS?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
Real-time PCR genotyping using Taqman probes from Life Tech on the Quant Studio 12K Flex Real-time PCR machine for the detection of specific alleles in genotyping the DPYD gene
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Validation study revealed 100% specificity and sensitivity for the samples tested
Assay limitations: Help
This analysis does not detect all variants with known impact on enzyme expression and activities. Non-genetic factors, variations in the other genes involving drug metabolism, or drug-drug interactions are not measured by this assay. The minimum depth of coverage is 16 reads. Phasing for alleles is not performed. the diplotype … 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
Not provided
Additional Information
Practice guidelines:
Consumer resources:

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.