HLA-B*58:01 Pharmacogenomic Panel

Why Genotyping Before the First Dose Matters

Clinical risk

Severe cutaneous adverse reactions (SCAR: SJS, TEN, DRESS) develop in ≈ 0.1 – 0.4 % of new allopurinol users, yet case-fatality can exceed 20 %.

Genetic prevalence

HLA-B*58:01 occurs in 10 – 15 % Han-Chinese, ≈ 12 % Korean, ≈ 6 – 16 % Thai, ~6 % Japanese, ≈ 3 – 4 % African-American, and < 1 % European populations.

Effect size

Carriers face ≥ 70-fold higher odds of allopurinol-induced SJS/TEN compared with non-carriers.

Guideline consensus

CPIC and the American College of Rheumatology (ACR 2020) advise HLA-B*58:01 testing for patients of Southeast-Asian or African-American ancestry before starting allopurinol.

Who Should Be Tested?

All Han-Chinese, Thai, Korean, or other SE-Asian patients

Because: Highest allele prevalence & SCAR risk

African-American patients

Because: Intermediate prevalence with documented SCAR cases

Individuals of mixed / unknown ancestry

Because: “Genotype, not appearance, drives risk”

Anyone with personal / family history of drug-induced SJS/TEN or DRESS

Because: Possible undisclosed HLA-B*58:01 carrier status

Patients with CKD starting allopurinol

Because: Renal impairment amplifies SCAR risk

Your Journey with Genolife Services

We guide you through every step, from counselling to creating a health safety plan.

Pre-test Counselling

Understand benefits, limits, and alternatives.

Sample Collection

A simple 2 mL EDTA blood draw.

Expert Interpretation

Reviewed by a multidisciplinary team of specialists.

Post test

description for family screening

References