Is SMN1/SMN2 Copy Number Quantification Enough?

The AmplideX® PCR/CE SMN1/2 Plus Kit* comprehensively reports copy number, silent carrier, and disease modifier information in under four hours.

Recent studies have demonstrated that transmission risk and disease severity may be impacted by the presence of additional variants, such as SMN1 gene duplication events and disease modifier in SMN2.

The AmplideX® PCR/CE SMN1/2 Plus Kit* revolutionizes the analysis of these two genes by delivering comprehensive results in less than four hours. Powered by AmplideX technology, the assay accurately quantifies SMN1 and SMN2 exon 7 copy number and also detects SMN1 gene duplication and SMN2 disease modifier variants – all from a single reaction. The assay shares a common workflow with other assays in the AmplideX product portfolio and is optimized for use on widely established laboratory equipment.

Additional Resources:

• White Paper: Interpreting Variants with the AmplideX® PCR/CE SMN1/2 Plus and SMA Plus Kits
• The Journal of Molecular Diagnostics
• Scientific Posters

* For Research Use Only. Not for use in Diagnostic procedures.