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
Book a clinical geneticist consultation.
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 diagnostic findings that are clinically actionable
- 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 higher specificity and fewer false positives than standard screening
- 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.
- Online genetic counselling to choose the right test scope for your baby and your family
- At-home cheek swab kit delivered anywhere in the UK (including London)
- Lab testing (typical 2–3 weeks from lab's sample receipt)
- Results consultation with clear next steps and support
