Newborn Genetic Screening in London

Newborn genetic screening uses advanced DNA testing to look for serious early-onset genetic conditions that may not be obvious at birth. The aim is to give families and clinicians earlier clarity and a practical plan, when relevant.

Newborn Genetic Screening explained

This test analyses your baby’s DNA using a 258-gene panel designed to screen 200+ conditions. It’s designed to focus on clinically actionable diagnostic findings (results that may change medical care or monitoring).

What the panel includes (examples): metabolic conditions, immunodeficiencies (SCID-type), epilepsy genes, cardiac/connective-tissue conditions, hearing loss genes, paediatric cancer syndromes, and other inherited disorders.

Newborn genetic screening at London Pregnancy Clinic

At London Pregnancy Clinic, newborn genetic screening is offered with support from Jeen Health genetic counsellors so your testing is:

  • chosen for the right reasons (not “just in case”)
  • clearly explained (what it can and can’t tell you)
  • followed by a practical next step plan if something is found

Newborn genetic screening is completed using a cheek (buccal) swab sample collected at home. Your kit is sent to your address and returned to the lab for analysis. Turnaround time: typically 2–3 weeks from sample receipt.

We provide this service with our clinical genetics partner Jeen Health — you can read more about the screening technology on their newborn genetic screening page.

Why isn’t newborn genetic screening suitable for everyone?

Why isn’t newborn genetic screening suitable for everyone?

While this test can be helpful, it isn’t the right fit for every family because:

  • It does not test for every genetic condition
  • A negative result reduces risk within what’s tested, but can’t rule out all causes of illness.
  • A positive result can raise questions for the wider family and may require confirmatory steps and clinical follow-up.
  • It is not suitable if your baby has any symptoms of concern — in that situation, clinical assessment should come first.
When to book a clinical geneticist

If your baby has symptoms, unusual growth patterns, or features that may suggest a genetic syndrome, the most helpful first step can be a clinical geneticist consultation. A clinical geneticist can:

  • review medical + family history in depth
  • perform a physical examination where appropriate
  • recommend the most suitable test (and avoid unnecessary testing)
  • provide a plan for management and monitoring, including referrals and follow-up

Your clinical geneticist

Dr Harry Leitch

Private consultant clinical geneticist in London

Dr Harry Leitch

Newborn genetic screening at London Pregnancy Clinic is delivered in partnership with the team at Jeen Health, with results explained and supported by our genetic counsellors and consultant clinical geneticist Dr Harry Leitch.

Your questions answered

What Newborn genetic screening results might you receive?

Positive – a DNA change is identified that is likely to affect health and may confirm a diagnosis and guide treatment or monitoring.

Negative: no relevant condition is found within the scope of this panel (not a guarantee of lifelong health).

What we don’t report (important):

  • Variants of uncertain significance (VUS) are not reported
  • Carrier status is not reported (this panel focuses on diagnostic/actionable findings)
What is newborn genetic screening?

Newborn genetic screening analyses your baby’s DNA to look for serious early-onset genetic conditions. It can help identify conditions that may not be obvious at birth. The goal is earlier clarity and earlier action when needed. This panel screens 200+ conditions, focused on findings that may change care.

Is newborn genetic screening available in London?

Yes. London Pregnancy Clinic offers newborn genetic screening with clear guidance around suitability. Many families value support before and after testing. That’s why we recommend discussing testing with a genetic counsellor, especially if you feel unsure. This helps you avoid testing that won’t answer your real question.

When can my baby have newborn genetic screening?

Newborn genetic screening is usually done after birth, once your baby is feeding and settled. Some families prefer to test in the first few weeks for reassurance. Others wait until they have had more time to bond with their baby, and consider if this is the right test for them. We offer newborn screening at any time in your baby’s first year.

How long do newborn genetic screening results take in the UK?

Turnaround is typically 2–3 weeks from the labs sample receipt. That timing can vary with logistics and lab workflow. You will be told what to expect at booking.

Is newborn genetic screening a blood test?

No. This newborn panel typically uses a cheek (buccal) swab sample. It is collected gently from inside the baby’s mouth. It is non-invasive and quick to do at home. Many parents prefer this approach because it avoids needles.

You will receive a kit with clear steps for collecting the swab. Try to collect the sample when your baby is calm. Avoid feeding immediately before the swab if your kit advises it. Label the sample carefully and send it back as instructed. If you’re worried, our team can talk you through it.

What does the Newborn genetic screening test look for?

This panel is designed to screen a wide range of inherited conditions linked to early illness in babies and children. It includes categories like metabolic conditions, immunodeficiencies, epilepsy genes, cardiac and connective tissue conditions, hearing loss genes, and other disorders. Importantly, the panel is designed around clinically actionable diagnostic findings. That means results should be meaningful for care decisions.

A positive result means a DNA change was found that is likely to affect health. It may confirm a diagnosis or strongly suggest one. The value is in what you can do next, such as monitoring, treatment, or specialist input. We’ll explain what the finding means, what is known, and what is still uncertain. We’ll also outline practical next steps.

Contact

Do you want to know more about newborn genetic screening?

Send us an enquiry

A clinician will reply within one working day.

For urgent matters please call 020 3687 2939.

Sources & clinical references

The figures and clinical statements on this page are drawn from the sources below. Guidance evolves — always discuss your individual circumstances with a clinician.

  1. NHS EnglandFirst newborn babies tested for over 200 genetic conditions as world-leading study begins in NHS hospitals2024
  2. NHSNewborn blood spot test
  3. NHS England Genomics Education Programme (GeNotes)Variant of uncertain significance (VUS) — Knowledge Hub
  4. Genomics EnglandHow we choose conditions — Newborn Genomes Programme
  5. MedlinePlus Genetics, US National Library of MedicineWhat do the results of genetic tests mean?