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Carbamazepine Hypersensitivity Pharmacogenomics Panel
Clinical Genetic Test
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offered by
Mayo Clinic Laboratories
View lab's test page
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GTR Test Accession: Help GTR000593358.3
CAP
PHARMACOGENOMICINHERITED DISEASE
Last updated in GTR: 2024-04-24
View version history
Last annual review date for the lab: 2024-05-28 LinkOut
At a Glance
Test purpose: Help
Drug Response; Therapeutic management
Conditions (5): Help
Drug metabolism or response; Carbamazepine hypersensitivity; Carbamazepine response more...
Genes (2): Help
HLA-A (6p22.1); HLA-B (6p21.33)
Methods (2): Help
Molecular Genetics - Targeted variant analysis: Real-time PCR with SYBR Green; 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
CARBR
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
Elyse Love, MS, CGC, 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/610048
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
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Test strategy
Conditions Help
Total conditions: 5
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: 2
Method Category Help
Test method Help
Instrument
Targeted variant analysis
Real-time PCR with SYBR Green
Targeted variant analysis
SNP Detection
QuantStudio 12K Flex
Clinical Information
Test purpose: Help
Drug Response; Therapeutic management
Clinical utility: Help
Guidance for selecting a drug therapy and/or dose
View citations (3)
  • Amstutz U, Shear NH, Rieder MJ, Hwang S, Fung V, Nakamura H, Connolly MB, Ito S, Carleton BC, . Recommendations for HLA-B*15:02 and HLA-A*31:01 genetic testing to reduce the risk of carbamazepine-induced hypersensitivity reactions. Epilepsia. 2014;55(4):496-506. doi:10.1111/epi.12564. Epub 2014 Mar 05. PMID: 24597466.
  • Caudle KE, Rettie AE, Whirl-Carrillo M, Smith LH, Mintzer S, Lee MT, Klein TE, Callaghan JT, . Clinical pharmacogenetics implementation consortium guidelines for CYP2C9 and HLA-B genotypes and phenytoin dosing. Clin Pharmacol Ther. 2014;96(5):542-8. doi:10.1038/clpt.2014.159. Epub 2014 Aug 06. PMID: 25099164.
  • Phillips EJ, Sukasem C, Whirl-Carrillo M, Müller DJ, Dunnenberger HM, Chantratita W, Goldspiel B, Chen YT, Carleton BC, George AL, Mushiroda T, Klein T, Gammal RS, Pirmohamed M. Clinical Pharmacogenetics Implementation Consortium Guideline for HLA Genotype and Use of Carbamazepine and Oxcarbazepine: 2017 Update. Clin Pharmacol Ther. 2018;103(4):574-581. doi:10.1002/cpt.1004. Epub 2018 Feb 02. PMID: 29392710.

Target population: Help
Individuals needing preemptive or reactive genotyping for pharmacogenomic purposes.
View citations (4)
  • HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans. McCormack M, et al. N Engl J Med. 2011;364(12):1134-43. doi:10.1056/NEJMoa1013297. PMID: 21428769.
  • Amstutz U, Shear NH, Rieder MJ, Hwang S, Fung V, Nakamura H, Connolly MB, Ito S, Carleton BC, . Recommendations for HLA-B*15:02 and HLA-A*31:01 genetic testing to reduce the risk of carbamazepine-induced hypersensitivity reactions. Epilepsia. 2014;55(4):496-506. doi:10.1111/epi.12564. Epub 2014 Mar 05. PMID: 24597466.
  • Caudle KE, Rettie AE, Whirl-Carrillo M, Smith LH, Mintzer S, Lee MT, Klein TE, Callaghan JT, . Clinical pharmacogenetics implementation consortium guidelines for CYP2C9 and HLA-B genotypes and phenytoin dosing. Clin Pharmacol Ther. 2014;96(5):542-8. doi:10.1038/clpt.2014.159. Epub 2014 Aug 06. PMID: 25099164.
  • Phillips EJ, Sukasem C, Whirl-Carrillo M, Müller DJ, Dunnenberger HM, Chantratita W, Goldspiel B, Chen YT, Carleton BC, George AL, Mushiroda T, Klein T, Gammal RS, Pirmohamed M. Clinical Pharmacogenetics Implementation Consortium Guideline for HLA Genotype and Use of Carbamazepine and Oxcarbazepine: 2017 Update. Clin Pharmacol Ther. 2018;103(4):574-581. doi:10.1002/cpt.1004. Epub 2018 Feb 02. PMID: 29392710.
Variant Interpretation:
Are family members with defined clinical status recruited to assess significance of VUS without charge? Help
Decline to answer.

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Decline to answer. 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?, Sample negative report, Sample positive report
Technical Information
Test Procedure: Help
Genomic DNA is extracted from whole blood. Amplification for the HLA-B*15:02 and HLA-A*31:01 alleles and an internal control gene is performed by real-time PCR in the presence of SYBR Green, which fluoresces when bound to double-stranded DNA. A genotype is assigned based on the allele-specific SYBR Green fluorescent signals that … View more
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Accuracy and analytical sensitivity for targeted allele(s): (>99%).
Assay limitations: Help
Rare reported or unreported HLA-A and HLA-B alleles may occur and may interfere with this assay, resulting in a false-positive or false-negative call. Examples of alleles that may interfere include other HLA-A*31 alleles (including HLA-A *31:01:23), HLA-B*15:13, HLA-B*15:31, HLA-B*15:55, HLA-B*15:88, HLA-B*15:89, HLA-B*18:20, HLA-B*15:112, HLA-B*15:121, HLA-B*15:144, and HLA-B*15:170. However, most of … 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
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.