Fragile X Syndrome AGG Interruption Genotyping

摘要

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.