Spinal Muscular Atrophy (SMA) Genetic Test
Planning a pregnancy or concerned about your family history? Carrier testing for Spinal Muscular Atrophy can provide information that shapes important decisions. Most carriers have no symptoms and no family history of the condition.
This genetic test detects deletions and duplications in the SMN1 gene, the cause of spinal muscular atrophy (SMA). SMA is an inherited neuromuscular condition that affects the nerve cells controlling muscle movement, leading to progressive muscle weakness.
Testing is appropriate for:
- • Carrier screening before or during pregnancy (both partners should be tested)
- • Diagnostic testing when SMA is suspected clinically
- • Family members of someone with someone with confirmed SMA
- • Couples with a family history of neuromuscular disease
SMA is inherited in an autosomal recessive pattern. Both parents must carry a faulty SMN1 gene for a child to be affected. Approximately 1 in 40-50 people carry one copy of the gene without symptoms, making it more common than many realise.
Why carrier testing matters: If both partners are carriers, there is a 25% chance with each pregnancy that the child will have SMA. Knowing carrier status allows for informed family planning decisions and prenatal testing options.
A reason for hope: With new treatments now available for SMA, including gene therapy, early diagnosis in affected infants significantly improves outcomes. Newborn screening for SMA is being introduced across the UK.
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Spinal Muscular Atrophy (SMA) Genetic Test
£641.25Common Questions
Q.Should my partner also be tested?
If you're a carrier, your partner should be tested. If only one parent is a carrier, the child cannot be affected (though they may be a carrier themselves).
Q.How is the test done?
A simple blood sample is all that's needed. Results are available within 10 working days.
Q.What if we're both carriers?
Genetic counselling can discuss your options, which may include prenatal testing, preimplantation genetic diagnosis (PGD) with IVF, or preparing for the possibility of an affected child.
