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Test ID HLA58 HLA-B*5801 Genotype, Allopurinol Hypersensitivity, Blood

Useful For

Identifying individuals with an increased risk of severe cutaneous adverse reactions to allopurinol based on the presence of the human leukocyte antigen HLA-B*58:01 allele

Method Name

Qualitative Allele-Specific Real-Time Polymerase Chain Reaction (PCR)

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.) 

Reporting Name

HLA-B 5801 Genotype, Allopurinol, B

Specimen Type

Whole Blood EDTA

Multiple genotype tests can be performed on a single specimen after a single extraction. See Multiple Whole Blood EDTA Genotype Tests in Special Instructions for a list of tests that can be ordered together.

 

Container/Tube: Lavender top (EDTA)

Specimen Volume: 3 mL

Collection Instructions: Send specimen in original tube.

Forms: New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (Supply T576) is available in Special Instructions.

Specimen Minimum Volume

0.35 mL

Specimen Stability Information

Specimen Type Temperature Time
Whole Blood EDTA Ambient (preferred)
  Refrigerated 

Clinical Information

The human leukocyte antigen (HLA) genes help the immune system recognize and respond to foreign substances (such as viruses and bacteria). The HLA-B gene encodes a class 1 HLA molecule in the major histocompatibility complex (MHC), which acts by presenting peptides to immune cells. There are more than 1,500 different HLA-B alleles identified, one of which is the HLA-B*58:01 allele. Frequency of the HLA-B*58:01 allele varies with ethnicity, with a frequency of 6% to 7% in Asian populations, and 1% in Caucasian populations.

 

Allopurinol is a drug widely used for hyperuricemia-related diseases such as gout, Lesch-Nyhan syndrome, and recurrent urate kidney stones. However, this drug is one of the most common causes of severe cutaneous adverse reactions (SCAR), an umbrella term encompassing drug hypersensitivity syndrome, Stevens-Johnson syndrome (SJS), and toxic epidermal necrolysis (TEN). These reactions have a reported mortality rate of 20% to 25%. For individuals taking allopurinol, the presence of the HLA-B*58:01 allele has been strongly associated with allopurinol-induced SCAR.

 

Guidelines from the Clinical Pharmacogenomics Implementation Consortium (CPIC) recommend HLA-B*58:01 genotyping be performed when considering prescribing allopurinol, and that allopurinol should not be prescribed to patients who test positive for the allele due to the increased risk of SCAR.(1) In addition, guidelines developed by the 2012 American College of Rheumatology for Management of Gout recommend that HLA-B*58:01 testing should be considered in select patient subpopulations at an elevated risk for allopurinol-induced SCAR. Those of Korean descent, especially those with stage 3 or higher chronic kidney disease, or of Han Chinese or Thai descent, irrespective of renal function, should be tested.(2)

Reference Values

An interpretive report will be provided.

Cautions

Samples may contain donor DNA if obtained from patients who received heterologous blood transfusions or allogeneic blood or marrow 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 blood or marrow transplantation on risk of severe cutaneous adverse reactions with allopurinol is not defined in the literature.

 

Rare or novel variants may be present that could lead to false-negative or false-positive results. This assay also detects closely related rare alleles including HLA-B*57:05, *58:04, *58:05, *58:09, *58:10, *58:11, *58:12, *58:13, *58:15, *58:17, *58:19, *58:21, *58:22, *58:23, *58:24, and *58:28. There are currently no data indicating whether these or any other alleles or subtypes are associated with allopurinol-induced severe cutaneous adverse reactions.

Day(s) Performed

Monday,Thursday; 10:00 a.m.

Report Available

1 day (Not reported Saturday or Sunday)

Performing Laboratory

Mayo Medical Laboratories in Rochester

Test Classification

This test was developed using an analyte specific reagent. Its performance characteristics were determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81381-HLA Class I typing, high resolution (ie, alleles or allele groups); one allele or allele group (eg, B*57:01P), each

NY State Approved

Conditional