Next Generation Sequencing (NGS), also known as high-throughput sequencing and massively parallel sequencing, is a revolutionary sequencing technique that amplifies numerous rounds of short DNA fragments (~150 bp) instead of long, targeted genomic molecules. Specific genes, exome regions, or whole genomes can be targeted by NGS. Schoeman et al. have used NGS targeting exomes to clarify blood group genotypes in 30 ambiguous samples where serology typing and single nucleotide polymorphism (SNP) genotyping were discordant or antigen typing was unclear. Twenty-two samples confirmed serology results or contained very rare SNPs that were not part of the standard platform. Of the 8 additional samples, NGS data helped to clarify 7 cases. One sample had a chimeric RH genotype; three samples contained novel genotypes in the CROM, LAN, and RH antigens; two samples contained rare genotypes of RH and FY not known to be associated with a phenotypic blood group allele; and another sample contained a rare variant of the KLF1 transcription factor gene, which could explain the ambiguous serology. NGS may be a useful tool in selecting blood products for patients with rare blood types or difficult serologic results.
- Schoeman EM, Roulis EV, Liew YW, et al. Targeted exome sequencing defines novel and rare variants in complex blood group serology cases for a red blood cell reference laboratory setting. Transfusion 2018; 58: 284-293.
- Montemayor C and Westhoff C. The “Next Generation” reference laboratory. Transfusion 2018; 58: 277-279.