From 9th Nov 2026, a new rapid diagnostic test for spinal muscular atrophy (SMA) will be added to the national genomic test directory, helping to improve urgent access to NICE approved treatments.
The new clinical indication has a 48-hour expected turnaround time and is in addition to existing testing and the in-service evaluation of SMA newborn screening that is currently rolling out nationally.
Rapid SMA testing should be ordered direct from the South East GMS, not via East Genomics.
Who can order testing?
Rapid SMA testing can be ordered for symptomatic patients only by requesters in specialist neuromuscular centres licensed to administer SMA therapies.
Within the East, these centres located at are:
- Cambridge University Hospitals NHS Foundation Trust
- Nottingham University Hospitals NHS Trust
- University Hospitals of Leicester NHS Trust
Tests sent to East Genomics will be processed as urgent using the slower pre-existing test method.
Who is eligible for testing?
Always review the current version of the national genomic test directory before ordering. The new test will be listed as R472 in the eligibility criteria document.
To be considered for testing, patients MUST have all of the following:
- Muscle weakness consistent with 5q SMA
- Poor antigravity movements (especially lower limbs)
- Facial sparing
- Areflexia / hyporeflexia
OR
Newborn infants who are born to parents who are known to be carriers of SMA AND have a 1 in 4 chance of having an affected child AND were not testing in pregnancy. In these cases, testing is needed to inform treatment.
OR
Newborn infants born to parents who are known to be carriers of SMA and prenatal testing has shown the baby is affected by SMA. In these cases, confirmatory testing is needed for treatment.
The eligibility criteria document includes further details of supportive clinical features.
How to order
For those in the East, please order testing from South East GMS using the order form on their website (opens in a new tab).
- Forms should be completed electronically where possible
- Please include all details about how the patient meets the eligibility criteria
- A printed copy of the SMA rapid referral form must accompany every sample
- Incomplete or unclear forms may delay testing.
- Please let us know that you are planning to send a test so that we can be prepared, by emailing: SMA@synnovis.co.uk
- Blood sample to be sent in an EDTA tube clearly labelled with at least 3 patient identifiers
Samples should be sent to:
Genetics Laboratory,
5th Floor, Tower Wing
Guy’s Hospital, London SE1 9RT