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SMA Newborn Testing
Patient reviews

SMA Newborn Testing

£690 See variants below

An at-home oral-swab DNA test that screens your baby for Spinal Muscular Atrophy (SMA) - the leading genetic cause of infant mortality in the UK. SMA is not on the NHS heel-prick panel; early detection lets your paediatric team start MHRA-approved treatments before motor-neurone loss becomes irreversible.

Turnaround time 2-3 weeks
Most advanced labs Accurate testing →

Sample method

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

Saliva or blood? The same DNA, the same accuracy.

Panel composition

2 genes screened

Every gene on this panel is sequenced end-to-end and variants are classified against NHS Genomic Medicine Service standards.

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. Easy returns. After sample collection, send your sample in the pre-paid bag to the nearest depot (details in your email). Turnaround is counted in working days 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

Genetic testing with Jeen Health is suitable for adults who have completed a pre-test consultation with one of our genetic counsellors - in clinic, over video, or by phone.

Genetic testing with Jeen Health is only available to individuals aged 18 and over.

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 sample at home or via a clinic of your choice.

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.

FAQ

Frequently asked questions.

Why screen my newborn for SMA when the NHS doesn't?

The NHS Newborn Blood Spot (heel-prick) screens for 10 conditions (hereditary tyrosinaemia type 1 was added in 2025). SMA still isn't one of them - despite being the leading genetic cause of infant mortality in the UK (around 1 in 10,000 births). The case for adding SMA to the panel has been reviewed by the UK National Screening Committee but no national programme exists yet. Private screening is the only way to detect SMA presymptomatically today, and it's the only window in which the three MHRA-approved treatments: nusinersen (Spinraza), risdiplam (Evrysdi), and the gene therapy onasemnogene abeparvovec (Zolgensma) can preserve motor neurones rather than slow their decline.

How does the test work?

A simple oral swab (no needles, no blood). You collect the sample at home, post it back in the prepaid envelope, and our certified lab partner runs 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.

What does a positive result mean - and what do we do next?

A positive result means your baby carries the SMA-causing genotype (typically a homozygous SMN1 exon-7 deletion). It does not mean symptoms have started - that's exactly the point of presymptomatic screening. Your Genetic Counsellor will walk you through next steps: an urgent referral to a paediatric neurology centre, SMN2 copy-number assessment (predicts disease severity), and discussion of the three approved treatments. Treatment outcomes are dramatically better when started before motor-neurone loss.

Can I upgrade to the full newborn panel later?

Yes - the on-page upgrade button takes you to our 258-gene Newborn Genetic Screening test for £30 more. That panel covers SMA plus over 200 other early-onset, treatable conditions (metabolic disorders, immunodeficiencies, hearing-loss genes and more). If you're already considering broader screening, the £30 upgrade is the better value.

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. Your Genetic Counsellor will explain this limitation during your results call 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.
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
5q SMA - homozygous SMN1 exon-7 deletion (Types 1–4). Also detects SMN2 copy number, which predicts disease severity and informs treatment selection.
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.

Book a consultation