- The AmplideX® SMA Plus Kit* is intended to aid in the screening of carriers for and diagnosis of spinal muscular atrophy (SMA)
- Delivers comprehensive results for SMN1 and SMN2, including accurate quantification of exon 7 copy number plus detection of relevant and gene hybrids, from a single reaction in <4 hours
- Designed to perform on standard laboratory-validated thermal cyclers, followed by resolution on a general laboratory-validated genetic analyzer or capillary electrophoresis (CE) platform
- Identification of SMA patients, carriers (including detection of variants associated with silent carriers), and refine disease prognosis – all from a single PCR reaction
- Detection of N2 c.859G>C, which is associated with a milder disease phenotype
- Assay-specific software automates results reporting and streamlines data analysis
- Excellent concordance of copy number and variant results compared to multiple orthogonal test methods
*CE-IVD
