Rapid, Comprehensive, and Complete SMN1/2 Profiling with the AmplideX^® SMA Plus Kit (CE-IVD) (ESHG 2020)

Testing for spinal muscular atrophy spans both diagnostic and screening settings. Recent studies have demonstrated that SMN1 and SMN2 copy number information alone may not be sufficient to guide appropriate action for either testing scenario. In the diagnostic setting, reporting on the unique c.859G>C SMN2 disease modifier variant may help to refine disease prognosis. Additionally, identifying “silent carriers” is of increasing demand when screening for asymptomatic carriers. In this presentation, a genome diagnostic laboratory will share their experience in using the AmplideX^® SMA Plus Kit (CE-IVD), which provides copy number, silent carrier, and disease modifier information all from a single reaction and in less than four hours.