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Interpretive Handbook

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Test 89347:
HLA-B 1502 Genotype, Carbamazepine Hypersensitivity

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Clinical studies have demonstrated associations between some human leukocyte antigen (HLA) genotypes and drug-induced adverse skin reactions. The presence of the HLA-B*1502 allele increases the risk of developing toxic epidermal necrolysis (TEN) or Stevens-Johnson syndrome (SJS), a milder form of TEN. The frequency of the HLA-B*1502 allele varies throughout Asia: 10% to 15% frequency in Chinese, 2% to 4% frequency in Southeast Asians, including Indians, and <1% frequency in Japanese and Koreans.

 

The Food and Drug Administration (FDA) recommends that individuals of Asian ancestry be genotyped for the presence of the HLA-B*1502 allele prior to receiving:

-carbamazepine, a drug used to treat epilepsy, manic/bipolar disorders, and neuropathic pain

-phenytoin and its soluble precursor fosphenytoin, drugs used to control seizures

 

Some studies have also suggested a connection between HLA-B*1502 positivity and adverse reactions to lamotrigine used for treating epilepsy and bipolar disorder.

Useful For Suggests clinical disorders or settings where the test may be helpful

Identifying individuals of Asian ancestry who are at risk of developing Stevens-Johnson syndrome and toxic epidermal necrolysis when administered carbamazepine, phenytoin, or fosphenytoin therapy

Interpretation Provides information to assist in interpretation of the test results

Positivity for human leukocyte antigen (HLA)-B*1502 confers increased risk for hypersensitivity to carbamazepine, phenytoin, or fosphenytoin.

Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

In patients who have had a recent transfusion, genotyping using DNA obtained from white blood cells may not provide useful information; wait 4 to 6 weeks until transfused cells have left the circulation.

Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.

An interpretive report will be provided.

Clinical References Provides recommendations for further in-depth reading of a clinical nature

1. Man CB, Kwan P, Baum L, et al: Association between HLA-B*1502 allele and antiepileptic drug-induced cutaneous reactions in Han Chinese. Epilepsia 2007;40:1015-1018

2. Chung WH, Hung SL, Hong HS, et al: Medical genetics: a marker for Stevens-Johnson syndrome. Nature 2004;428:486

3. Hung SL, Chung WH, Jee SH, et al: Genetic susceptibility to carbamazepine-induced cutaneous adverse drug reaction. Pharmacogenet Genomics 2006;16:297-306

4. Cox ST, McWhinnie AJ, Robinson J, et al: Cloning and sequencing full-length HLA-B and -C genes. Tissue Antigens 2003;61:20-48

5. Hung, Shuen-Iu. Chung, Wen-Hung. Liu, Zhi-Sheng. Chen et al: Common risk allele in aromatic antiepileptic-drug induced Stevens-Johnson syndrome and toxic epidermal necrolysis in Han Chinese. Pharmacogenomics. 2010;11:349-356