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HLA testing in the molecular diagnostic laboratory

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Abstract

The human leukocyte antigen (HLA) system is a highly polymorphic family of genes involved in immunity and responsible for identifying self versus non-self. HLA typing is essential for solid organ and bone marrow transplantation as well as in non-transplant settings such as disease association and pharmacogenomics. Typing of HLA genes differs from most molecular testing as, rather than evaluating differences from an accepted “wild-type” gene, it must distinguish between thousands of similar, but distinct alleles. This article will describe the HLA system and nomenclature. We will then discuss clinical uses of HLA typing including solid organ transplantation, hematopoietic stem cell transplantation, evaluation of platelet refractory patients, disease association, and pharmacogenetics. Finally, we describe common molecular methods of HLA typing.

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Authors and Affiliations

  1. Department of Pathology, University of New Mexico, MSC08 4640, Reginald Heber Fitz Hall, Room 335, 1 University of New Mexico, 87131, Albuquerque, NM, Mexico

    Kathleen Madden & Devon Chabot-Richards

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  1. Kathleen Madden
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  2. Devon Chabot-Richards
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Both authors contributed significantly to the writing and preparation of this manuscript.

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Correspondence to Devon Chabot-Richards.

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The manuscript is an original work of all authors. All authors made a significant contribution to this study. All authors have read and approved the final version of the manuscript.

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Madden, K., Chabot-Richards, D. HLA testing in the molecular diagnostic laboratory. Virchows Arch 474, 139–147 (2019). https://doi.org/10.1007/s00428-018-2501-3

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