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Testing for >1000 conditions using your DNA
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Newborn Genetic Screening

A more detailed newborn screen can help spot serious but often hidden genetic conditions early, so families can act faster with the right monitoring and treatment plan.

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Genes analysed:

HBB
CFTR
GAA
BTD
OTC
‍TGFBR1
IL2RG
ADA
+250 More
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Medically reviewed by Ailidh Watson, Lead Genetic Counsellor·Last reviewed January 2026
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200+

Conditions screened

Screen for conditions beyond standard newborn testing

258

Genes analysed

Check sequencing variants and whole-gene deletions as well as duplications.

~99%

Typical coverage at 20x

Reads the targeted genes at high coverage (about 99% of target regions at 20x depth)

2–3 wks

Typical turnaround

Results can be used to identify potential treatment/management plans

Table of contents

Jeen
Genetics
Newborn Genetic Screening
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What is newborn genetic screening?

Newborn genetic screening looks at your baby’s DNA to find changes that can cause severe or life-altering conditions, including conditions that may not be obvious at birth. The aim is earlier diagnosis, which can mean earlier treatment, planning, and specialist care.

Clinical geneticist consultation and physical examination

If your baby has symptoms, unusual growth patterns, or there are physical features that may suggest a genetic condition, a clinical geneticist consultation with physical examination can be the most helpful next step.

This appointment focuses on:

  • A detailed medical and family history
  • Physical examination (where appropriate) to look for patterns that can point towards specific conditions
  • Deciding whether genetic testing is needed, and which test is most suitable
  • A practical plan for management and monitoring, including referrals where needed

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What does this test look for?

This newborn panel is designed to:

  • Check sequencing variants and whole-gene deletions/duplications (copy number changes)
  • Screen for conditions beyond standard newborn testing
  • Only report clinically actionable findings, which may need confirmatory testing
  • Be used as confirmatory / follow-up testing if a newborn screen result is abnormal or unclear1

The Newborn Genetic Screening panel includes condition categories such as:

  • Metabolic disorders (e.g., PKU/PAH and many others)
  • Blood disorders (e.g., beta-thalassaemia/HBB)
  • Hearing loss genes (e.g., GJB2, SLC26A4)
  • Congenital heart / connective tissue disorders (e.g., Marfan/FBN1)
  • Immunodeficiency disorders (SCID-type)
  • Paediatric cancer syndromes (e.g., NF1, RB1, VHL)
  • Epilepsy genes (e.g., SCN1A)
  • Other disorders (e.g., cystic fibrosis/CFTR, spinal muscular atrophy/SMN1/SMN2)

What results might you get?

Positive - A DNA change is found that is likely to affect your baby’s health, may confirm a diagnosis, and may suggest medical treatment or monitoring is needed.

Negative - No inherited genetic condition is found within what this test screens for. This reduces risk meaningfully, but doesn’t rule out every condition.

Important:

  • Variants of uncertain significance (VUS) are not reported
  • Carrier status is not reported (this test focuses on diagnostic, actionable findings)

Who is this test for?

Newborn genetic screening may be relevant if you want:

  • A broader screen for early-onset genetic conditions
  • Support with results and decisions (especially if there’s a family history)
  • More clarity if there’s already a borderline/unclear newborn screening result

Genetic counselling is recommended to talk through whether testing fits your family and what results could mean.

Benefits and limitations

Benefits

  • Screens 200+ conditions in one test
  • Designed for high coverage across the targeted genes
  • Can reduce “diagnostic odyssey” (long investigations before answers)
  • Results can support treatment/management planning

Limitations

  • It does not test for every possible genetic condition
  • A negative result does not guarantee your baby won’t develop a genetic or health condition later
  • If a diagnostic finding is identified, it can imply parents may be carriers and future pregnancies could be at risk (follow-up family testing may be considered)

How Jeen testing works

If you’re unsure whether newborn genetic screening is the right step, start with a 30-minute genetic counselling appointment. We’ll talk through your baby’s history, your pregnancy, and any family history, then recommend the most appropriate testing.

  1. Online genetic counselling to choose the right test scope for your baby and your family
  2. At-home cheek swab kit delivered anywhere in the UK (including London)
  3. Lab testing (typical 2–3 weeks from lab's sample receipt)
  4. Results consultation with clear next steps and support

Disclaimer! The information provided in this article is for educational purposes only and is based on NHS recommendations. It is not a substitute for professional medical advice. Always consult your doctor or a qualified healthcare provider for advice on medical conditions or treatments.

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Frequently Asked Questions

Do I need genetic counselling before a newborn genetic test?

If you’re unsure about testing, genetic counselling is the best first step. In 30 minutes, we’ll review your situation and explain what testing could mean for your family.

What is a clinical geneticist consultation?

It’s a medical appointment that reviews symptoms, development and family history, and may include a physical examination to guide diagnosis, testing and a management plan.

What happens after a clinical geneticist appointment?

You’ll leave with clear next steps, which may include genetic testing, monitoring, referrals, and a plan for follow-up depending on findings.

Can NIPT tell me the sex of my baby?

Yes, NIPT can identify the baby’s biological sex with high accuracy, but this is completely optional. If you’d like to know, just let our team know during your consultation and if you’d rather not find out, we’ll make sure it’s not included in your report.

Is newborn genetic screening a blood test?

Jeen’s newborn genetic screening uses a cheek (buccal) swab collected at home (a simple swab inside the mouth). That sample is then analysed in the lab. Turnaround is typically 2–3 weeks from sample receipt.

How long do Panorama NIPT results take?

Your results will usually be ready within 7–10 working days from the time your sample arrives at our partner lab. Once the results arrive our admin team will call and deliver the results to you as soon as they’re ready.

Please note that delays can occur during public holidays in both the UK and US. If your results indicate that follow-up testing is needed for your partner, we’ll act quickly to keep everything moving smoothly. Our priority is to get you the answers you need without unnecessary delays, so you can make confident, informed decisions for your pregnancy.

Can I book a clinical geneticist in London or elsewhere in the UK?

Yes. Jeen offers online appointments across the UK, including for families in London, with referral guidance for any in-person exams where required.

When is a physical examination useful for genetic conditions in babies?

If there are symptoms, developmental concerns, or specific physical features, an examination can help narrow down which conditions and tests are most relevant.

What’s the difference between a karyotype and newborn genetic screening?

A karyotype is a laboratory test that looks at chromosomes (the large structures that hold DNA) to check for big changes, like extra or missing chromosomes or large rearrangements. It’s often used when there are specific clinical reasons to suspect a chromosome condition.

Newborn genetic screening (this 258-gene panel) looks at specific genes linked to early-onset inherited disorders and reports clinically actionable diagnostic findings. It may detect different types of genetic changes than a karyotype, and the two tests can be used for different clinical questions.

If your baby has symptoms or features where a chromosome test might be relevant, a (with physical examination where appropriate) is often the best way to decide which test is most suitable.

Should I do NIPT, carrier screening, or newborn genetic screening?

It depends on when you are in the journey and what you want to learn:

‍Before pregnancy / early pregnancy: carrier screening can clarify inherited risks and reproductive options.

‍During pregnancy: NIPT testing can screen for certain chromosome conditions.

‍After birth: newborn genetic screening can look for actionable genetic conditions that may not be obvious at birth (this panel screens 200+ conditions across 258 genes).

What’s the difference between NIPT and newborn genetic screening?

NIPT testing (Non-Invasive Prenatal Testing) is a pregnancy blood test that screens for certain chromosome conditions by analysing placental DNA that circulates in the mother’s blood. It’s a screen, not a diagnosis.

Newborn genetic screening is a post-birth DNA test using your baby’s sample that looks at specific genes linked to early-onset conditions. This panel reports clinically actionable diagnostic findings, screens 200+ conditions, and analyses 258 genes.

What’s the difference between carrier screening and newborn genetic screening?

Carrier screening is usually done before or during pregnancy to see whether you (and/or your partner) carry genetic changes that could be passed on to a baby. Carriers are typically healthy and have no symptoms. It helps estimate the chance of having a child affected by certain inherited conditions.

Newborn genetic screening is done after birth and analyses your baby’s DNA to look for clinically actionable, diagnostic findings linked to serious early-onset conditions. This newborn panel screens 200+ conditions across 258 genes and does not report carrier status.

Sources & references

The statistics and clinical claims on this page are supported by the following authoritative sources.

  • Fulgent Genetics
  • NHS
  • NCBI
  • Natera

Explore more

  • pre-pregnancy carrier screening
  • speak to a genetic counsellor
  • clinical geneticist consultation
  • what is genetics?

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