The First Step in Family Planning
Spinal Muscular Atrophy (SMA) is an inherited neuromuscular disorder characterized by progressive muscle weakness and atrophy. This autosomal recessive condition is primarily caused by homozygous deletions of the SMN1 gene, while the SMN2 gene influences disease severity.
Who Is It For?
Method
According to the American College of Medical Genetics and Genomics (ACMG) guidelines, both MLPA and NGS methods should be used together for SMA screening and diagnosis.
Important Note: The MLPA analysis performed at our center also evaluates and reports variants associated with silent carrier status.
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