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Next Generation Sequencing (NGS) technology is well documented as a highly sensitive and specific method for HLA typing. Here we investigate the possibility that copy neutral loss of Heterozygosity (cnLOH) involving the HLA complex located at 6p21 is a potential confounder of interpreting NGS HLA typing results.HLA typing for 11 cases with cnLOH of 6p21 identified by Chromosomal Genomic Array Testing...
A 25 year old male AML patient in relapse was refered to our transplant center, having undergone a haploidentical transplant from a sib at another center. Bone marrow was collected, DNA from the sorted blast fraction isolated and HLA typed using rSSO (Luminex). Only the paternal haplotype shared with the sibling donor was detected in the blast cells, suggesting loss of heterozygosity (LOH), since...