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Multisite Evaluation of a Single-tube SMN1/2 PCR/CE Assay System that Assesses Copy Number and Expanded Content for Spinal Muscular Atrophy
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"Multisite Evaluation of a Single-tube SMN1/2 PCR/CE Assay System that Assesses Copy Number and Expanded Content for Spinal Muscular Atrophy"

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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