Spinal Muscular Atrophy (SMA)
Spinal muscular atrophy (SMA) is a debilitating illness of the central nervous system and is a leading genetic cause of infant death. The disease is associated with a loss of functional copies of the SMN1 gene and its severity is, largely, inversely correlated to the number of copies of SMN2. The availability of novel treatments requires early diagnosis to effectively combat the disease. Furthermore, nearly 1 in 50 people are asymptomatic carriers of SMA, prompting leading clinical organizations to recommend carrier screening for all populations.
Introducing AmplideX® SMA Plus Kit
The AmplideX® SMA Plus Kit is an in vitro nucleic acid amplification kit intended to aid in the screening of carriers of and diagnosis of spinal muscular atrophy (SMA). The kit quantifies the number of copies of exon 7 of both SMN1 and SMN2 reported as 0, 1, 2, 3, or ≥ 4 genomic copies. The assay also detects variants SMN1 c.*3+80T>G and SMN1 c.*211_*212del, which are associated with SMN1 gene duplication and “silent carrier” status, as well as variant SMN2 c.859G>C, which is associated with a milder disease phenotype.
Ease of data analysis and reporting
Comprehensive analysis of SMN1 and SMN2 genes for diagnosis and screening of SMA
Reduces valuable operator hands-on-time and overall turnaround time