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Buccal Swab Testing With the AmplideX PCR/CE SMN1/2 Plus Kit that Assesses Copy Number and Critical Mutations for SMA
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"Buccal Swab Testing With the AmplideX PCR/CE SMN1/2 Plus Kit that Assesses Copy Number and Critical Mutations for SMA"

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease that results from mutation of the survival motor neuron 1 gene (SMN1) and is the most common genetic cause of infant death.

SMA treatments Spinraza (nusinersen), Evrysdi (resdiplam), and Zolgensma (onasemnogene abeparvovec) achieve profound benefits on survival and motor milestones by modifying SMN2 splicing or using gene replacement with functional SMN genes. Early detection of SMA (including SMN2 copy number status) and identification of at-risk couples through carrier screening is critical to aid in early intervention and family planning decisions.

This poster from Asuragen presents data validating a single-tube PCR assay and companion software that uses capillary electrophoresis to assess SMN1 and SMN2 copy numbers and critical mutations, previously validated for use with DNA isolated from blood, for use with buccal swabs.


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