SMN1 gene test kit AmplideX PCR/CE SMN1 Plus

for researchfor genetic disordersfor SMN2 gene

Copy number variations in SMN1 and SMN2 are, respectively, associated with the onset and severity of spinal muscular atrophy (SMA), a debilitating and life-threatening illness of the central nervous system. 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. Features & Benefits Reduced Complexity Similar workflow to AmplideX PCR/CE FMR1*† kit eases implementation and training Multiplexed, scalable design allows analysis of single-nucleotide variants, small indels, and copy-number changes from a single PCR reaction Assay-specific software automates variant calls and streamlines data analysis Optimized Workflow Optimized for use on commonly installed CE equipment Fully-kitted solution sourced from a single vendor Quality Results Ability to differentiate between 0, 1, 2, 3 and ≥4 copies for both SMN1 and SMN2 Automated variant and copy-number genotyping Accuracy demonstrated through comparisons with multiple orthogonal methods