HLA-B 5701 Genotype - Clinical Genetic Test - GTR

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HLA-B 5701 Genotype

Clinical Genetic Test

offered by

Mayo Clinic Laboratories

View lab's test page

GTR Test Accession: GTR000593367.3

CAP

PHARMACOGENOMIC

Last updated in GTR: 2024-04-29

Last annual review date for the lab: 2023-05-30

At a Glance

Test purpose:

Drug Response; Therapeutic management

Conditions (3):

Drug metabolism or response; Abacavir hypersensitivity; Pazopanib response

Genes (1):

HLA-B (6p21.33)

Methods (1):

Molecular Genetics - Targeted variant analysis: Real-Time PCR with SYBR Green

Target population:

Individuals needing preemptive or reactive genotyping for pharmacogenomic purposes.

Clinical validity:

Not provided

Clinical utility:

Guidance for selecting a drug therapy and/or dose

Ordering Information

Offered by:

Mayo Clinic Laboratories
View lab's website
View lab's test page

Test short name:

HL57R

Specimen Source:

Isolated DNA
Peripheral (whole) blood
Saliva
View specimen requirements

Who can order:

Genetic Counselor
Health Care Provider
Licensed Dentist
Licensed Physician
Nurse Practitioner
Physician Assistant
Public Health Mandate
Registered Nurse

Test Order Code:

HL57R
View other test codes

LOINC codes:

**LOINC codes notice

Lab contact:

Elyse Love, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
gcmolgen@mayo.edu
1-800-533-1710

Contact Policy:

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:

https://www.mayocliniclabs.com/test-catalog/Specimen/610054
Order URL

Test development:

Test developed by laboratory (no manufacturer test name)

Informed consent required:

Based on applicable state law

Pre-test genetic counseling required:

Decline to answer

Post-test genetic counseling required:

Decline to answer

Recommended fields not provided:

Test strategy

Conditions

Total conditions: 3

Condition/Phenotype	Identifier

Test Targets

Genes

Total genes: 1

Gene	Associated Condition	Germline or Somatic	Allele (Lab-provided)	Variant in NCBI

Methodology

Total methods: 1

Method Category

Test method

Instrument *

Targeted variant analysis

Real-Time PCR with SYBR Green

* Instrument: Not provided

Clinical Information

Test purpose:

Drug Response; Therapeutic management

Clinical utility:

Guidance for selecting a drug therapy and/or dose

View citations (3)

Martin MA, Klein TE, Dong BJ, Pirmohamed M, Haas DW, Kroetz DL, . Clinical pharmacogenetics implementation consortium guidelines for HLA-B genotype and abacavir dosing. Clin Pharmacol Ther. 2012;91(4):734-8. doi:10.1038/clpt.2011.355. Epub 2012 Feb 29. PMID: 22378157.
DailyMed Drug Label, VOTRIENT- pazopanib hydrochloride tablet, 2021
https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=eeaaaf38-fb86-4d9f-a19d-0f61daac2fd7

Target population:

Individuals needing preemptive or reactive genotyping for pharmacogenomic purposes.

View citations (2)

Martin MA, Klein TE, Dong BJ, Pirmohamed M, Haas DW, Kroetz DL, . Clinical pharmacogenetics implementation consortium guidelines for HLA-B genotype and abacavir dosing. Clin Pharmacol Ther. 2012;91(4):734-8. doi:10.1038/clpt.2011.355. Epub 2012 Feb 29. PMID: 22378157.
DailyMed Drug Label, VOTRIENT- pazopanib hydrochloride tablet, 2021

Research:

Is research allowed on the sample after clinical testing is complete?
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?, 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?, Sample negative report, Sample positive report

Technical Information

Test Procedure:

Genomic DNA is extracted from the sample. Amplification for the HLA-B*57:01 allele 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 are detected.(Hammond … View more

Test Platform:

Other

Test Confirmation:

Positive results are confirmed when appropriate.

Availability:

Tests performed
Entire test performed in-house

Analytical Validity:

Accuracy and analytical sensitivity for targeted allele(s): (>99%).

Assay limitations:

Samples may contain donor DNA if obtained from patients who received nonleukoreduced blood transfusions or allogeneic hematopoietic stem cell transplantation. Results from samples obtained under these circumstances may not accurately reflect the recipient's genotype. For individuals who have received blood transfusions, the genotype usually reverts to that of the recipient … Samples may contain donor DNA if obtained from patients who received nonleukoreduced blood transfusions or allogeneic hematopoietic stem cell transplantation. Results from samples obtained under these circumstances may not accurately reflect the recipient's genotype. For individuals who have received blood transfusions, the genotype usually reverts to that of the recipient within 6 weeks. The impact of hematopoietic stem cell transplantation on risk of abacavir hypersensitivity reactions is not defined in the literature. The FDA recommends screening for the HLA-B*57:01 allele before initiating therapy with abacavir. Genotyping is also critical when there is a clinical history of, or when the physician suspects, an abacavir hypersensitivity reaction. However, FDA guidance states that, regardless of HLA-B*57:01 status, abacavir should be permanently discontinued if hypersensitivity cannot be ruled out, even when other diagnoses are possible. Although the negative predictive value of the test is high, a negative HLA-B*57:01 result does not preclude the development of a hypersensitivity response to abacavir and cannot substitute for clinical vigilance whenever abacavir therapy is administered. Since symptoms of abacavir hypersensitivity are often nonspecific and can imitate other conditions commonly seen in HIV patients on antiretroviral therapy, the phenotypic diagnosis of abacavir hypersensitivity can be challenging. There is significant variability among patients identified as hypersensitive to abacavir. Not all individuals who are positive for HLA-B*57:01 will have a hypersensitivity reaction. All patients taking pazopanib should have hepatic function monitored, regardless of HLA-B*57:01 carrier status, and administration of pazopanib should be interrupted, reduced, or discontinued according to recommendations in the FDA label if hepatic function is impaired. Rare or novel variants may be present that could lead to false-negative or false-positive results. There may be rare or novel HLA-B alleles that could interfere with this assay. There are, as yet, no data indicating whether any other allele or subtypes are associated with abacavir hypersensitivity or pazopanib hepatotoxicity. View more

Proficiency testing (PT):

Is proficiency testing performed for this test?
Yes

Method used for proficiency testing:
Formal PT program

PT Provider:
American College of Medical Genetics / College of American Pathologists, ACMG/CAP

Recommended fields not provided:

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:

Category: FDA exercises enforcement discretion

Additional Information

Reviews:

PubMed Clinical Queries

Clinical resources:

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.