Novel Basic Carrier Test - Detection of SMA by discrimination of SMN1 & SMN2 using long-read sequencing (ONT) & artificial intelligence (AI)
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SMA, a progressive, recessive neuromuscular disease with varying presentations of onset and severity, is caused by bi-allelic mutations in the SMN1 gene (deletion of the gene in 95% of the cases). The severity is determined by the number of SMN2 copies. SMN1 and SMN2 only have 5 different nucleotides in the whole sequence. Due to its high clinical and genetic heterogeneity and low prevalence (1/10,000 births), diagnosis and treatment are highly challenging.