Spinal muscular atrophy (SMA) is a devastating neurodevelopmental illness caused by a loss of SMN1 copies, with disease severity largely determined by the number of SMN2 copies. But is determining copy number enough? New evidence indicates that detecting the presence of an SMN2 disease modifier variant (c.859G>C) may influence SMA prognosis. Additionally, the detection of SMN1 gene duplication variants associated with silent carrier status may help provide a more accurate residual risk estimate for being a carrier for the disease.

In our upcoming webinar, we will review the design and workflow of the new AmplideX® PCR/CE SMN1/2 Plus* and SMA Plus** Kits, which provide SMN1 and SMN2 copy number, silent carrier, and disease modifier information all from just a single PCR reaction in under four hours. The latest assay accuracy, reproducibility, and multisite performance data from a new peer-reviewed publication will also be discussed.

* For research use only. Not for use in diagnostic procedures.

** CE-IVD. For US export only.