Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease that results from mutation of the survival motor neuron 1 gene (SMN1).
SMA molecular assessment is complicated by high homology between SMN1 and SMN2, which only differ at their 3’ ends by five nucleotides. In addition, SMA severity is directly influenced by the ability of SMN2 to produce functional SMN protein. An SMN2 variant, c.859G>C, improves inclusion of SMN2 exon 7 in the full length transcript, and is associated with reduced disease severity. This poster describes the analytical performance of the AmplideX PCR/CE SMN1/2 Plus Kit, which evaluates exon 7 copy number of SMN1 and SMN2, and variant status of gene duplication and disease modifier markers.
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