SMN1 gene copy number analysis - Spinal muscular atrophy (screening test)

Spinal muscular atrophy encompasses a group of genetic disorders characterized by muscle weakness and atrophy due to degeneration of motor neurons in the spinal cord. At the genetic level, the most common types are caused by a mutation in the SMN1 gene, which renders it nonfunctional and results in the loss of production of the SMN (Survival Motor Neuron) protein, which is key to maintaining motor neurons.