Biogen & Invitae introduce SMA STAT test for faster genetic testing
Category: #health  By Sunil Hebbalkar  Date: 2019-08-21
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Biogen & Invitae introduce SMA STAT test for faster genetic testing

Global biotechnology expert Biogen Inc. and advanced genetics leader Invitae Corporation have reportedly announced their new rapid-turnaround test for genetic testing in the diagnosis for SMA (spinal muscular atrophy).

The SMA STAT test is a part of the SMA Identified program, launched in April 2018, through which it will be available to individuals with suspected diagnoses or genetic history of SMA, in the United States at no charge.

The SMA STAT genetic test cuts down the time taken for genetic testing from 21 days to 4, enabling healthcare workers to diagnose and begin treatment earlier for this often-terminal disease. As per clinical studies, early diagnosis of SMA and faster treatment can prevent symptoms from becoming too severe, slow the disease progression and make an improvement in motor functions.

Preliminary SMA diagnosis is usually done through assessment by a physician following the onset of symptoms or through screening just after birth. Confirmation of SMA diagnosis is done through genetic testing, which gives more information to help guide the treatment plan for the individuals.

The SMA STAT test identifies SMN 1 gene deletions and assesses SMN 2 copy number, both of which are essential factors in SMA diagnosis and treatment. A higher number of SMN 2 copies usually indicates a less critical but still a life-changing form of SMA.

Dr. Randal Richardson, M.D & neuromuscular neurologist at Minnesota-based Gillette Children’s Specialty Healthcare, has recently stated that faster genetic testing speeds up the diagnosis of SMA, which reduces the stress while awaiting results and promotes earlier medical intervention and better outcomes for patients. He further adds that the SMA Identified program helps reduce the obstacles to getting a genetic test at an earlier stage in the diagnostic process, ensuring a quicker transition to discussions regarding treatment plans.

The SMA Identified program expansion now involves the SMA STAT test & SMA carrier screening, which helps identify genetic carriers of SMA, in addition to the thorough genetic analysis provided by the current SMA panel.

Source Credit: 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

 



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Sunil Hebbalkar

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Sunil Hebbalkar

Sunil Hebbalkar develops content for Algosonline, Market Size Forecasters, and a couple of other platforms. A Post graduate mechanical design engineer by qualification, he worked as an intern at the defense lab for one year in the engine design and development departm...

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