Laboratory Corporation of America Holdings
Assay for Hemoglobin A (HBA) Detection and Genotyping

Abstract:

The present disclosure relates to a Hemoglobin A (HBA) assay and a HBA genotyping decision tree matrix for implementation into clinical testing. Particularly, aspects are directed to obtaining raw data from the HBA assay performed on a plurality of samples, calculating a first set of probe ratios for each sample based on the raw data, identifying a number of reference samples to be combined as a synthetic reference sample based on the first set of probe ratios, calculating a second set of probe ratios for each sample of the plurality of samples based on the raw data and the synthetic reference sample, and determining, by the decision tree matrix, a HBA genotype for each sample based on the second set of probe ratios for each sample and copy number calling thresholds for sample probe/reference probe ratios associated with each probe of the plurality of probes.