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NUDT15 genotyping
Clinical Genetic Test
Help
offered by
Department of Laboratory Medicine
GTR Test Accession: Help GTR000596788.1
PHARMACOGENOMIC
Registered in GTR: 2021-11-11
View version history
Last annual review date for the lab: 2022-11-15 Past due LinkOut
At a Glance
Test purpose: Help
Drug Response; Predictive
Conditions (1): Help
Thiopurine response
Genes (1): Help
NUDT15 (13q14.2)
Methods (1): Help
Molecular Genetics - Mutation scanning of select exons: PCR with allele specific hybridization
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Department of Laboratory Medicine
Specimen Source: Help
  • Isolated DNA
  • Peripheral (whole) blood
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
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.
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Test Order Code, How to Order, Lab contact for this test, Test strategy
Conditions Help
Total conditions: 1
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
Mutation scanning of select exons
PCR with allele specific hybridization
Eppendorf Thermal cycler
Clinical Information
Test purpose: Help
Drug Response; Predictive
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, 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?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Interpretation performed in-house
Report generated in-house
Specimen preparation performed in-house
Wet lab work performed in-house
Analytical Validity: Help
30 DNA samples were genotyped for the NUDT15*3 genetic variant and the validation was performed by sending representative samples for commercial Sanger sequencing. The sequencing results showed 100% concordance with those obtained by in-house developed allele-specific PCR
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Alternative Assessment

PT Provider: Help
CAP and NABL certified laboratory

Description of PT method: Help
Sanger sequencing
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, 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.