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Invitae Spinal Muscular Atrophy Test

Invitae launched a new genetic test for diagnosing spinal muscular atrophy (SMA), a neuromuscular disease that impacts infants' ability to walk, crawl, and eventually breath and swallow, and can be lethal. The company claims that its genetic test is an improvement over currently available methods. Affecting one in every 10,000 infants, SMA is an autosomal recessive disorder that is usually caused by the loss of SMN1 gene, while variations in the number of copies of SMN2 contributes to disease severity. Accurately gauging both sequence changes in SMN1 and copy number changes in SMN2 has been challenging in the past, but the company said in a statement it is hoping to address this with its next-generation sequencing test and customized bioinformatics solution. Invitae is offering analysis of SMN1 and SMN2 as a standalone test, and adding the genes to its neuromuscular and neuropathy panels.