The HLA system is the most polymorphic genetic system known in man and plays an important role in many clinical settings such as disease susceptibility, blood transfusion, hematopoietic stem cell and solid organ transplantation. The classical HLA genes can be subdivided into two major classes: HLA class I (HLA-A, B, C) and HLA class II (HLA-DR, DQ, DP) genes. Cell membrane products of these genes are expressed on most cells of the body and present either intra cellular derived peptides or extra cellular derived peptides to the immune system. The diversity of HLA molecules is the result of nucleotide substitutions at exon(s) and or intron(s) sequences. These substitutions can give rise to amino acid differences that may have impact on peptide presentation or interaction with the T-cell receptor. Characterization and identification of the enormous diversity of HLA alleles at the DNA level is performed by means of high resolution typing techniques such as the 'conventional' Sanger Sequence Based Typing (SBT) technique and Next Generation Sequencing (NGS) technique. The use of these two HLA typing techniques enables the unraveling of nucleotide sequences of all relevant exons and introns giving rise to unambiguous allelic and genotypic typing results.

Sanquin offers low and high resolution typing of the different HLA genes. Sanquin is accredited by the European Federation of immunogenetics.

HLA genotype assignment

Example of a HLA genotype assignment using the Sequence Based Typing technique (left panel) or the Next Generation Sequencing method (right panel)

Also see:


Gabriel C, Fürst D, Faé I, Wenda S, Zollikofer C, Mytilineos J, Fischer GF.HLA typing by next-generation sequencing – getting closer to reality. Tissue Antigens 2014; 83 (2):65-75.

Vendelbosch S, de Boer M, Gouw RA, Ho CK, Geissler J, Swelsen WT, Moorhouse MJ, Lardy NM, Roos D, van den Berg TK, Kuijpers TW. Extensive variation in gene copy number at the killer immunoglobulin-like receptor locus in humans. PLoS One 2013; 8(6):e67619.

Swelsen WT, Hartog KS, Lardy NM. Identification of two new HLA class II alleles: DRB1*01:50 and DQB1*05:18. Tissue Antigens 2013; 82(1):78-9.

Swelsen WT, Hartog KS, Ranzijn CM, Lardy NM. The unusual DRB1*08:01 haplotype carrying DRB3*02:02 confirmed in a Dutch family. Tissue Antigens 2013; 82(2):122-4.

Swelsen WT, Hartog KS, Poell B, Varlack SV, Lardy NM. Characterization of three new HLA-B alleles: B*35:05:03, B*52:29 and B*57:01:13. Tissue Antigens 2012; 80(3):270-1.

Swelsen WT, Poell B, Hartog KS, Lardy NM. Characterization of a new allele: HLA-A*03:134. Tissue Antigens 2012; 79(4):309-10.

Last edited on: 10 November 2015