Abstract: The present disclosure relates to Fragile X Syndrome (FXS) clinical testing, and in particular to an FXS AGG interruption polymerase chain reaction (PCR) assay and an AGG interruption genotyping algorithm for implementation into clinical testing. Particularly, aspects are directed to obtaining raw data from the FXS assay performed on a sample, iteratively searching the raw data and identifying one or more AGG peaks on the first allele using a first set of search spaces determined based on an expected AGG peak size, determining a number of CGG repeats downstream of a final AGG interruption and a number of CGG repeats preceding a first AGG interruption on the first allele based on the one or more AGG peaks, and generating an AGG genotype for the first allele based on the number of CGG repeats downstream of the final AGG interruption and the number of CGG repeats preceding the first AGG interruption.

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.

Abstract: The present disclosure relates to Fragile X Syndrome (FXS) clinical testing, and in particular to a FXS AGG interruption polymerase chain reaction (PCR) assay and an AGG interruption genotyping algorithm for implementation into clinical testing. Particularly, aspects are directed to obtaining raw data from the FXS assay performed on a sample, iteratively searching the raw data and identifying one or more AGG peaks on the first allele using a first set of search spaces determined based on an expected AGG peak size, determining a number of CGG repeats downstream of a final AGG interruption and a number of CGG repeats preceding a first AGG interruption on the first allele based on the one or more AGG peaks, and generating a AGG genotype for the first allele based on the number of CGG repeats downstream of the final AGG interruption and the number of CGG repeats preceding the first AGG interruption.