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NUDT15
Clinical Genetic Test
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offered by
RPRD Diagnostics, LLC
View lab's test page
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GTR Test Accession: Help GTR000568368.2
PHARMACOGENOMICMETABOLIC DISEASEINHERITED DISEASE ... View more
Last updated in GTR: 2020-03-04
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Last annual review date for the lab: 2024-10-23 LinkOut
At a Glance
Test purpose: Help
Drug Response; Screening
Conditions (4): Help
Thiopurine metabolic disease; Azathioprine response; Mercaptopurine response more...
Genes (1): Help
NUDT15 (13q14.2)
Methods (1): Help
Molecular Genetics - Targeted variant analysis: RT-qPCR
Target population: Help
In addition to screening for known pharmacogenetic-relevant alterations (PGx haplotypes …
Clinical validity: Help
The variant allele is an allele with a sequence different …
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
RPRD Diagnostics, LLC
View lab's website
View lab's test page
Test short name: Help
NUDT15
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Physician Assistant
CPT codes: Help
**AMA CPT codes notice

Copyright: 2023 American Medical Association. All rights reserved.

Lab contact: Help
Ulrich Broeckel, MD, Lab Director
ubroeckel@rprdx.com
414-316-3097
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
Acceptable specimen sources are blood, extracted DNA and saliva. Blood: 2-4mL in EDTA (lavender top). This is our preferred specimen type. Extracted DNA: 1ug DNA (please indicate sample source on test request form); Saliva: Use DNA Genotek Oragene DNA (OG-500) kit. All samples should be shipped at ambient temperatures via …
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Order URL
Test service: Help
Pharmacogenetics
    OrderCode: PGX
Pharmacogenetics
    OrderCode: NUDT15
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test Order Code, 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
RT-qPCR
BioRad CFX96
Clinical Information
Test purpose: Help
Drug Response; Screening
Clinical validity: Help
The variant allele is an allele with a sequence different from the reference allele. There should be at least 95% agreement with sensitivity and specificity of the assay. Our assay validation demonstrated 99.9% agreement/accuracy of test results. The prevalence of the different CEP72, NUDT15 and TPMT alleles vary significantly across … View more
Target population: Help
In addition to screening for known pharmacogenetic-relevant alterations (PGx haplotypes or *alleles) in the Caucasian population in the gene(s) listed, this test also detects known pharmacogenetic-relevant alterations with a higher frequency in other ethnic populations including, African, East Asian, Sought/Central Asian and Americas.
View citations (1)
  • Yang JJ, Whirl-Carrillo M, Scott SA, Turner AJ, Schwab M, Tanaka Y, Suarez-Kurtz G, Schaeffeler E, Klein TE, Miller NA, Gaedigk A. Pharmacogene Variation Consortium Gene Introduction: NUDT15. Clin Pharmacol Ther. 2019;105(5):1091-1094. doi:10.1002/cpt.1268. Epub 2018 Dec 04. PMID: 30515762.
Recommended fields not provided:
Clinical utility, 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
Test Platform:
Taqman SNP Genotyping Assays
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Human gDNA samples were utilized to assess the validity of the assays. The samples used were either gDNA samples purchased from the Coriell Institute or in-house samples. For some rare variants, no genomic DNA samples were available. Custom plasmids containing the DNA sequence of interest were used. Our assay demonstrated … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Alternative Assessment
Recommended fields not provided:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information
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.