Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease that results from mutation of the survival motor neuron 1 gene (SMN1), where disease severity is modulated by the SMN2 copy number.
The AmplideX PCR/CE SMN1/2 Plus Kit is a one-tube PCR that quantifies SMN1 and SMN2 copy numbers and genotypes gene duplication "silent carrier" markers as well as a disease modifier variant.
This poster describes a study in which four laboratories evaluated the SMN1/2 Plus kit by testing a total of 471 samples and achieving more than 98 percent agreement with reference results across copy number and other gene variants.
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