Molecular genotyping platforms for blood group antigen prediction

Aim This study investigated the advantages/disadvantages of commercial red blood cell (RBC) genotyping platforms. Methods DNA samples (n = 196) from extensively phenotyped red blood cell (RBC) donors were genotyped utilising three genotyping platforms: BLOODchip Reference v4.1 (Progenika); Human Erythrocyte Antigen (HEA) BeadChip v1.2 (BioArray Solutions Ltd); and HemoCarta Blood Group Typing Panel pre-released vl.O (Sequenom Inc). Results BLOODchip Reference is a low-throughput platform which genotypes 138 polymorphisms, encoding 33 RBC antigens and 12 human platelet antigens (HPA). HEA BeadChip is medium-throughput and genotypes 24 polymorphisms, encoding 34 RBC antigens. HemoCarta Blood Typing Panel is medium to high-throughput and genotypes 107 polymorphisms, encoding 78 RBC and 23 HPA and neutrophil antigens. Flexibility is offered by the BeadChip platform with the availability of different test chips and the HemoCarta platform by customisation into smaller modules. In this study a phenotype genotype discrepancy rate of 10.4% was detected and genotyping outcomes between platforms were 100% concordant where comparison was possible. Discussion All genotyping platforms worked well as an adjunct to serology with sensitivity and specificity of 100% on the sample set tested. Factors to consider when comparing platforms are the polymorphisms detected, depth of coverage (replicates), sample through-put, cost per sample and cost per requested result. This study investigated the advantages/disadvantages of commercial red blood cell (RBC) genotyping platforms. DNA samples (n = 196) from extensively phenotyped red blood cell (RBC) donors were genotyped utilising three genotyping platforms: BLOODchip Reference v4.1 (Progenika); Human Erythrocyte Antigen (HEA) BeadChip v1.2 (BioArray Solutions Ltd); and HemoCarta Blood Group Typing Panel pre-released vl.O (Sequenom Inc). BLOODchip Reference is a low-throughput platform which genotypes 138 polymorphisms, encoding 33 RBC antigens and 12 human platelet antigens (HPA). HEA BeadChip is medium-throughput and genotypes 24 polymorphisms, encoding 34 RBC antigens. HemoCarta Blood Typing Panel is medium to high-throughput and genotypes 107 polymorphisms, encoding 78 RBC and 23 HPA and neutrophil antigens. Flexibility is offered by the BeadChip platform with the availability of different test chips and the HemoCarta platform by customisation into smaller modules. In this study a phenotype genotype discrepancy rate of 10.4% was detected and genotyping outcomes between platforms were 100% concordant where comparison was possible. All genotyping platforms worked well as an adjunct to serology with sensitivity and specificity of 100% on the sample set tested. Factors to consider when comparing platforms are the polymorphisms detected, depth of coverage (replicates), sample through-put, cost per sample and cost per requested result.