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SMA Newborn Testing
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SMA Newborn Testing

£690

An at-home cheek-swab DNA test that looks for spinal muscular atrophy (SMA), a rare genetic condition that can cause muscle weakness that gets worse over time, by analysing the SMN1 and SMN2 genes. It is a private screening test, not a diagnosis, and it does not replace the NHS newborn blood spot test. A positive result needs confirming with diagnostic testing arranged through a specialist paediatric service.

Turnaround time 2-3 weeks
Laboratory analysis About our testing →

Sample method

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Add 257 more genes for £30 Upgrade to the full 258-gene Newborn Panel
Panel composition

2 genes screened

This test is a targeted analysis of the SMN1 and SMN2 genes by MLPA and next-generation sequencing. It does not look at any other gene.

SMN1 SMN2

Click any gene to read its plain-English overview on Jeen Library - function, associated conditions, and inheritance pattern.

Useful information

The logistics, simply.

Everything you need to know about shipping, blood draw, and suitability.

Kit delivery & logistics

1. Get your kit from us. Free delivery of your test kit, dispatched by next-day delivery after your included 30-minute genetic counsellor consultation (video or phone) and once your test choice is confirmed. Changed your mind? Return the kit unused within 30 days at no charge.

2. Posting your sample back. After sample collection, send your sample in the pre-paid bag to the nearest depot (details in your email). Turnaround is counted from when your sample reaches the laboratory.

Turnaround
2-3 weeks

Sample / draw options

At-home cheek swab : At-home cheek swab kit; you collect the sample yourself and post it back.

Test suitability

This test is for babies. It looks for SMA before symptoms appear, so if your baby already has symptoms - such as floppy or weak arms and legs, or difficulty with movement - or you are worried about their development, please see your GP rather than ordering a screening test.

The order must be placed by a parent or legal guardian aged 18 or over, who gives consent on the baby's behalf and completes a pre-test consultation with one of our genetic counsellors (video or phone). You collect your baby's cheek swab at home.

How it works

Three steps. That's it.

Simple, clinician-supported steps to take your test with Jeen.

01

Talk to a clinician

Book your included 30-minute consultation with our genetic counsellor (video or phone). Confirm the test that's right for you.

02

Consent + collect

Complete your consent form online, receive your kit, and collect your baby's cheek swab at home.

03

Results + follow-up

Your results are reviewed by your genetic counsellor. We share them with you securely, and book a follow-up consultation with onward referrals if your result is high-risk.

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FAQ

Frequently asked questions.

Is SMA part of NHS newborn screening?
SMA is not yet part of the routine newborn blood spot screening programme in England. From 1 October 2026, babies born in maternity units across the West Midlands are being tested for SMA as part of an NHS in-service evaluation, which is being extended to other parts of England in phases. Until your area is included, SMA is not part of the NHS newborn blood spot test. The routine NHS test screens for 10 conditions, is recommended for all babies, and this private test does not replace it. SMA affects about 1 in 10,000 babies. The UK National Screening Committee says that finding SMA early allows a baby to be referred promptly for assessment and treatment, which can significantly improve outcomes, and the NHS evaluation will help decide whether and how screening continues. Ask your midwife whether SMA screening is offered where your baby is born.

How does the test work?
A simple oral swab (no needles, no blood). You collect the sample at home, post it back in the pre-paid return packaging, and our laboratory partner runs a targeted analysis of the SMN1 and SMN2 genes by MLPA and next-generation sequencing. Results return in 2-3 weeks via a private encrypted report, with a 30-minute follow-up call with a genetic counsellor included. This is a targeted screening test of those two genes, not a full genome or exome test.

What does a positive result mean - and what do we do next?
A positive result means the test found changes in the SMN1 gene (typically a deletion of exon 7 on both copies of the gene) that are associated with SMA. It is a screening result, not a diagnosis: it needs confirming with a diagnostic test arranged through a paediatric specialist service, and treatment decisions are made by that team. It does not mean symptoms have started. Your genetic counsellor will explain the result and the next steps, including an urgent referral to a paediatric neurology centre and what the SMN2 copy number may mean for how severe SMA is likely to be. Which treatments are suitable depends on your baby's age and symptoms, and is decided by their specialist team.

Can I upgrade to the full newborn panel later?
Yes - the on-page upgrade button takes you to our Newborn Genetic Screening test for £30 more. That test analyses 258 genes linked to inherited conditions that can affect babies, including metabolic disorders, immune deficiencies and some causes of hearing loss. It does not cover every genetic condition: the Newborn Genetic Screening page shows the gene groups it includes. Both are private screening tests, not diagnoses, and neither replaces the NHS newborn blood spot test.

How accurate is the test?
Targeted SMN1/SMN2 analysis detects over 95% of SMA cases. The small remaining minority are compound heterozygotes - a point mutation on one SMN1 allele combined with a deletion on the other - which targeted deletion analysis alone can miss, so a negative result does not completely rule out SMA. This test does not look for any other condition. Your genetic counsellor will explain this limitation and advise on any further testing if it is clinically indicated.

Is my data kept private?
Yes. All results are stored encrypted in a UK-based clinical data warehouse, GDPR-compliant, and shared only with you (and, with your consent, your paediatrician or GP). We never share genetic data with insurers, employers, or third parties. You can request full deletion at any time under your UK GDPR right to erasure.

Who is this test for?
The test is for babies. The order must be placed by a parent or legal guardian aged 18 or over, who gives consent on the baby's behalf and takes the cheek swab at home. It looks for SMA before symptoms appear: if your baby already has symptoms, such as floppy or weak arms and legs, or difficulty with movement, or you are worried about their development, please see your GP rather than relying on a screening test.
Panel composition

All 2 genes by category

Genes grouped by the clinical area they're associated with. Click any underlined symbol to read the gene's plain-English overview on Jeen Library - or browse per-gene carrier frequencies for population-stratified rates.

Gene category
Associated genes
Conditions
Spinal Muscular Atrophy (SMA) 2 genes
SMN1, SMN2
5q SMA - deletion of SMN1 exon 7 on both copies of the gene (SMA types 1-4). Also detects SMN2 copy number, which is associated with how severe SMA is likely to be.
Get in touch

Talk to a specialist.

Our team is here to help. Whether you're curious about testing, your results, or what's right for you - we're a message away.

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Email
[email protected]
Phone
+44 20 3870 9099
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