Published: 4th March 2025 - All information correct at time of publication.
We are pleased to offer a new digital PCR test for the rapid diagnosis of Spinal Muscular Atrophy (SMA), a severe, progressive neuromuscular disorder caused by genetic mutations or deletions of the SMN1 gene.
SMA patients present as “floppy infants”, with early onset of muscle weakness and failure to achieve motor milestones. In the most severe cases prospects of survival are limited without ventilatory support.
Treatments can significantly improve both survival prosects and motor development in children with SMA, and early diagnosis is key. There are about 80 new patients diagnosed in the UK each year, and in each case treatments deliver the most benefit when initiated as early as possible.
Realising the importance of an early diagnosis of SMA, our Synnovis team has developed an assay to diagnose, or exclude, SMA which can give a result within three days of a sample reaching our laboratory. This is a dramatic improvement on the turnaround time of 14 days currently expected under the NHS.
While this test has not yet been commissioned by NHSE it is available via referral. If you would like to access the test your department will be invoiced.
You can find out more about requesting a test here.
