High-Resolution HLA Genotyping by Next-Generation Sequencing

ARUP began offering high-resolution HLA genotyping by next generation sequencing (NGS) for two HLA tests, HLA Class I (A, B, and C) and HLA Class II (DRB1 and DQB1) on October 20, 2014 under an agreement with The Children’s Hospital of Philadelphia.

Currently, the standard of care for HLA genotyping to select a donor for hematopoietic stem cell transplantation (HSCT) is to use a low/intermediate resolution SSO/SSP test first, followed by high resolution Sanger sequencing of donor candidates to select the best matched donor. HLA typing by NGS generates the high-resolution allelic information in patients and donor candidates in a single step without the need for screening and progression to confirmatory testing.

HLA genes are the most polymorphic gene family found in the human genome, with more than 10,000 different HLA alleles reported to date. High-resolution HLA genotyping by NGS is uniquely able to address limitations of traditional Sanger sequencing assays in patients requiring a higher level of HLA allele matching.

Sanger Sequencing NGS
HLA genotyping by Sanger sequencing is derived from few exons of HLA class I and class II genes. HLA genotyping by NGS is derived from all exons of HLA class I and class II genes.
Sanger sequencing often fails to solve cis/trans chromosomal polymorphic positions of HLA alleles. NGS is able to solve cis/trans chromosomal polymorphic positions of HLA alleles.
Sanger sequencing produces ambiguous results, with need for NMDP coding. NGS produces unambiguous results, without need for NMDP coding.

Additional Information