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Interpreting Variants with the AmplideX PCR/CE SMN1/2 Plus and SMA Plus Kits
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"Interpreting Variants with the AmplideX PCR/CE SMN1/2 Plus and SMA Plus Kits"

Asuragen’s AmplideX PCR/CE SMN1/2 Plus and AmplideX SMA Plus kits are in vitro nucleic acid amplification kits for the determination of SMN1 and SMN2 exon 7 copy number. The kits resolve SMN1 and SMN2 exon 7 copy numbers and identify hybrid peaks associated with chimeric genes resulting from gene conversion.

Additionally, they determine the status of three important polymorphism variants associated with SMN1 gene duplication and one associated with reduced disease severity due to improved SMN2 splicing.

This white paper discusses the latest clinical research on the variants detected by this kit, including how they relate to the underlying genetics and outcomes for spinal muscular atrophy disease prognosis and carrier risk.


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