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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 in London Pregnancy Clinic

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.

Genetic counsellor session before doing Newborn genetic screening at London Pregnancy Clinic

Genetic counsellor session before doing Newborn genetic screening

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

What sample is used?

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.

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.

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
Dr Harry Leitch private clinical geneticist specialising in reproductive Genetics in London. In Partnership with the team at Jeen Health.

Dr Harry Leitch private clinical geneticist specialising in reproductive Genetics in London.

Frequently Asked Questions

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 across 258 genes, 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 there is a specific reason to investigate. If your baby is unwell, clinical assessment matters most. A clinician can advise on the right timing and test type.

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. If results are urgent for medical reasons, we can advise options

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.

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