A new rapid turnaround genetic test for spinal muscular atrophy (SMA), found to reduce time to results from 21 days to 4 days, will be offered at no charge to qualified individuals in the United States as part of the SMA Identified program. This according to a press release from Biogen Inc and Invitae Corporation.

SMA STAT (Biogen Inc; Invitae Corporation) is a rapid genetic test designed to detect deletions in the SMN1 gene and to assess the copy number of the SMN2 gene in individuals with a suspected diagnosis or family history of SMA. The test was found to reduce the time needed confirm a definitive diagnosis of SMA and enable clinicians to expedite treatment plans.

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“Rapid genetic testing accelerates the diagnostic process. Not only does it minimize the apprehension of waiting, but an even earlier diagnosis promotes earlier intervention and therefore potentially better medical outcomes for patients with SMA,” said Randal Richardson, MD, neuromuscular neurologist, Gillette Children’s Specialty Healthcare, St. Paul, Minnesota. He also noted, “Whether an infant or child is showing early signs of SMA or a long-standing patient requires genetic confirmation of the disease, every day makes a difference.”

The introduction of SMA STAT test expands upon the current SMA Identified program, which was launched in April 2018. The program now includes the SMA STAT test, in addition to the current SMA panel and SMA carrier screening. Individuals residing in the United States with a suspected diagnosis of SMA, or family history of SMA, are eligible for this program. Requests must be made by a qualified physician via the SMA Identified website.

Reference

Biogen and Invitae Announce Availability of Rapid Results in Genetic Testing Program for Spinal Muscular Atrophy (SMA) to Improve Speed of Diagnosis for Patients [press release]. Cambridge, MA and San Francisco, CA: Globe Newswire; August 20, 2019. https://www.globenewswire.com/news-release/2019/08/20/1904049/0/en/Biogen-and-Invitae-Announce-Availability-of-Rapid-Results-in-Genetic-Testing-Program-for-Spinal-Muscular-Atrophy-SMA-to-Improve-Speed-of-Diagnosis-for-Patients.html. Accessed August 21, 2019.