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Test ID: HL58O HLA-B*5801 Genotype, Allopurinol Hypersensitivity, Saliva

Reporting Name

HLA-B 5801, Allopurinol, Saliva

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


Genotyping patients who prefer not to have venipuncture done

Specimen Type


Specimen Required

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


Container/Tube: Oragene DNA Self-Collection Kit (T651: fees apply)

Specimen Volume: Full tube

Collection Instructions:

1. Fill to tube line.

2. Send specimen in original container per kit instructions.

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time
Saliva Ambient

Reference Values

An interpretive report will be provided.

Day(s) and Time(s) Performed

Monday, Wednesday, Friday; 9 a.m.

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


LOINC Code Information

Test ID Test Order Name Order LOINC Value
HL58O HLA-B 5801, Allopurinol, Saliva In Process


Result ID Test Result Name Result LOINC Value
35104 HLA-B 5801 Saliva Result 79711-8
35105 HLA-B 5801 Saliva Interpretation 69965-2
35106 Reviewed by 18771-6

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*5801 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 rick of SCAR.(1) In addition, guidelines developed by the 2012 American College of Rheumatology for Management of Gout recommend that HLA-B*5801 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)


Positivity for HLA-B*5801 confers increased risk for hypersensitivity to allopurinol.


For additional information regarding pharmacogenomic genes and their associated drugs, see the Pharmacogenomic Associations Tables in Special Instructions. This resource also includes information regarding enzyme inhibitors and inducers, as well as potential alternate drug choices.

Clinical Reference

1. Saito Y, Stamp L, Caudle K, et al: Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for human leukocyte antigen B (HLA-B) genotype and allopurinol dosing: 2015 update. Clin Pharmacol Ther 2015 June;doi: 10.1002/cpt.161

2. Khanna D, Fitzgerald J, Khanna P, et al: 2012 American College of Rheumatology guidelines for management of gout. Part 1: systematic nonpharmacologic and pharmacologic therapeutic approaches to hyperuricemia. Arthritis Care Res 2012;64:1431-1446

3. Hershfield MS, Callaghan JT, Tassaneeyakul W, et al: Clinical Pharmacogenetics Implementation Consortium guidelines for human leukocyte antigen-B genotype and allopurinol dosing. Clin Pharmacol Ther 2013 Feb;93(2):153-158

4. Chung WH, Hung SI, Chen YT: Human leukocyte antigens and drug hypersensitivity. Curr Opin Allergy Clin Immunol 2007;7:317-323

Analytic Time

1 day (Not reported Saturday or Sunday)

Method Name

Qualitative allele-specific real-time Polymerase Chain Reaction (PCR)


1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. If not ordering electronically, complete, print, and send a Pharmacogenomics Test Request (T797) with the specimen.

Mayo Clinic Laboratories | Genetics and Pharmacogenomics Catalog Additional Information: