Clinical Education Center
Spinal Muscular Atrophy (SMA) Carrier and Diagnostic Testing
Description: Sat Dev Batish, PhD of Athena Diagnostics discusses carrier and diagnostic testing for spinal muscular atrophy (SMA), the second most common fatal autosomal recessive disorder behind only cystic fibrosis and the leading genetic cause of infant mortality in the US.
o Describe the potential benefits, evidence supporting, current guidelines and factors to consider for population screening for SMA
o Communicate the significance of the SMN2 gene and its role as a prognostic indicator for SMA disease severity