spinal muscular atrophy genetic test

Spinal muscular atrophy (SMA) is an autosomal recessive genetic disease characterized by degeneration of motor neurons in the anterior horn of the spinal cord, which is clinically manifested as progressive and symmetrical muscle weakness, atrophy, and paralysis in the proximal extremity and trunk. Spinal muscular atrophy SMN1 is the main component of SMA, while SMN2 is just a regulatory gene. Statistical speaking Approximately 95% of individuals affected by spinal muscular atrophy (SMA) exhibit a complete absence of exon 7 and/or exon 8 in both copies of the SMN1 gene. The remaining 5% or so of patients display a combination of having only one copy of exon 7 deleted in the SMN1 gene and a point mutation leading to compound heterozygosity of SMN1. The Tianlong Human Survival Motor Neuron 1 (SMN1) Gene Detection Kit can perform an accurate, comprehensive spinal muscular atrophy genetic test based on the PCR melting curve method, which is used for gene detection for the copy number of SMN1 at the 7th exon and/or the 8th Exton in human genomic DNA. This makes the Motor Neuron 1 (SMN1) Gene Detection Kit perfect for screening SMN1 gene carriers in spinal muscular atrophy.