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NUDT15/TPMT Panel
Clinical Genetic Test
Help
offered by
RPRD Diagnostics, LLC
View lab's test page
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GTR Test Accession: Help GTR000568293.4
CAP
PHARMACOGENOMICINHERITED DISEASEMETABOLIC DISEASE ... View more
Last updated in GTR: 2020-03-04
View version history
Last annual review date for the lab: 2024-10-23 LinkOut
At a Glance
Test purpose: Help
Drug Response; Predictive; Screening; ...
Conditions (4): Help
Thiopurine metabolic disease; Azathioprine response; Mercaptopurine response more...
Genes (2): Help
NUDT15 (13q14.2); TPMT (6p22.3)
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
NT Panel
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Physician
  • Physician Assistant
Test Order Code: Help
NT Panel
View other test codes
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: NT
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 strategy
Conditions Help
Total conditions: 4
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 2
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; Predictive; Screening; Therapeutic management
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
Formal PT program

PT Provider: Help
American College of Medical Genetics / College of American Pathologists, ACMG/CAP
Recommended fields not provided:
Test Confirmation, 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
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.