Human Leukocyte Antigen Typing by Next-Generation Sequencing

Tracie Profaizer; Attila Kumánovics

doi:10.1016/j.cll.2018.07.006

Human Leukocyte Antigen Typing by Next-Generation Sequencing

Clin Lab Med. 2018 Dec;38(4):565-578. doi: 10.1016/j.cll.2018.07.006. Epub 2018 Oct 5.

Authors

Tracie Profaizer¹, Attila Kumánovics²

Affiliations

¹ ARUP Institute for Clinical and Experimental Pathology, Department of Pathology, University of Utah School of Medicine, 500 Chipeta Way, Salt Lake City, UT 84108, USA. Electronic address: tracie.profaizer@aruplab.com.
² ARUP Institute for Clinical and Experimental Pathology, Department of Pathology, University of Utah School of Medicine, 500 Chipeta Way, Salt Lake City, UT 84108, USA.

PMID: 30420053
DOI: 10.1016/j.cll.2018.07.006

Abstract

Human leukocyte antigen (HLA) allele ambiguities are the result of limitations of current HLA typing methodologies. Ambiguities maybe due to polymorphisms in unsequenced regions of HLA genes or cis/trans variants that cannot be distinguished by Sanger sequencing. Next generation sequencing (NGS) can resolve these two sources of ambiguity because the entire gene can be sequenced. Commercially available HLA NGS genotyping kits enable laboratories to deliver high-quality and unambiguous HLA typing results at an affordable cost. Third generation sequencing technologies are poised to further improve sequencing quality, shorten turn-around and library preparation times, as well as provide full-gene phasing.

Keywords: DNA sequencing; Human leukocyte antigen (HLA); Next generation sequencing (NGS); Polymerase chain reaction (PCR).

Publication types

Review

MeSH terms

HLA Antigens / genetics*
High-Throughput Nucleotide Sequencing*
Histocompatibility Testing
Humans
Polymerase Chain Reaction
Sequence Analysis, DNA*

Substances

HLA Antigens