HLA-B5701 genotype (susceptibility to Abacavir), total blood

Description, Method, Result Format and Reference values Modification

Test code: 3467
Mnemonic code: B5701

Effective update from 10/06/2024

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Description: HLA-B5701 genotype (susceptibility to Abacavir), total blood Method: Real-Time PCR Result format:  R1  Result Reference Values: Negative Technique: DNA extraction from whole blood and subsequent amplification by real-time PCR (CE-IVD commercial method) of the alleles of the HLA-B*57:01 group associated with a hypersensitivity reaction to abacavir, and of a fragment of the HBB (ß-globin) gene used as an internal positive control. Version of Test: 4

Description: B5701 (HLA-B*57:01 ALLELE), WHOLE BLOOD Method: Multiplex PCR/Real-Time PCR Result format:  R1  Sample                 R2  Result Reference Values: Interpretation Abacavir is a drug that is generally used in combination with others to treat HIV infection. It acts as a reverse transcriptase inhibitor and, although it may present side effects, it is generally well tolerated. However, serious hypersensitivity reactions with symptoms of liver damage and lactic acidosis, which can be life-threatening, have been reported. Hypersensitivity to abacavir is strongly associated with HLA-B*57:01 allele, an HLA-B gene polymorphism present in around 3% of European population. Consequently, it is recommended to determine the presence/absence of this allele prior to starting treatment since abacavir hypersensitivity is prone to late diagnosis, when symptoms have already appeared, and treatment is more torpid. This report should be evaluated by a specialist in the context of all available clinical and family information in conjunction with other laboratory findings. Genetic counselling is recommended. Test method DNA extraction followed by real-time PCR amplification (CE-IVD commercial method) of  HLA-B*57:01 allele group, associated with abacavir hypersensitivity reaction, and of an HBB gene fragment (β-globin) as internal positive control Test limitations Variants other than those studied are not analyzed. Normal/polymorphic genomic variation in the patient may interfere with variant detection in the sample. References Cameron P. U. et al. Abacavir. (2021). Kucers’ the Use of Antibiotics. Seventh Edition 3773–3800  Mallal, S. et al. (2002). The Lancet 359, 727–732  Saag, M. S. et al. (2008). Clinical Infectious Diseases 46, 1111–1118  Quiros-Roldan, E. et al. (2020). Pharmacogenetics and Genomics 167–174  Mallal, S. et al. (2008). N Engl J Med 358, 568–579 Version of Test: 5

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