This kit enables simultaneous detection of deletions and 11 point mutations in the SMN1 gene, deletions or duplications among any one of the 79 exons and 13 point mutations in the DMD gene, and CGG repeats (premutations or full mutations) in the FMR1 gene. It also provides information of SMN2 gene copy number. It is designed primarily for carrier screening of genetic mutations associated with spinal muscular atrophy (SMA), Duchenne muscular dystrophy (DMD) and fragile X syndrome (FXS).