SMA diagnosis with digital PCR faster, less costly than standard...

SMA diagnosis with digital PCR faster, less costly than standard...

Digital PCR, which simultaneously detects SMN1 gene defects and the number of SMN2 copies to diagnose spinal muscular atrophy (SMA) in newborn screening programs, matches the accuracy of standard methods, but is faster and less costly, a study reports. The new technique was also able to detect one copy of SMN1 in healthy newborns, which standard methods cannot do, supporting a diagnosis of SMA in infants who carry one defective SMN1 copy plus ot…