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Phenome Longevity

Newborn Screening Test

Newborn Screening Test

£450.00 GBP
£450.00 GBP
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The Phenome Longevity Newborn Screening Test is an advanced preventive health tool designed to detect a wide range of treatable endocrine, metabolic, and immunological conditions in newborns. By identifying potential risks early, this test enables timely, evidence-based intervention supporting better health outcomes and helping to prevent serious complications before symptoms arise. 

Our advanced genetic diagnostics go beyond standard screening by confirming potential conditions at the molecular level. By analysing the specific genes associated with affected enzymes or proteins, this test delivers precise insights for early diagnosis and personalised care.
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The Most Comprehensive Newborn Screening Test in the UK

Unlike the NHS, which screens for just 9 rare conditions only when there are clear medical indicators, our test screens for over 200 genetic and metabolic conditions giving you a broader understanding of your baby’s health from the very start.

Why it Matters?

Early screening gives every baby the best possible start in life.

While most babies are born healthy, around 1 in 300 has a serious genetic or metabolic condition that may not be immediately visible. Many of these conditions are manageable (even preventable) when detected early.

Our comprehensive newborn screening test expands beyond the standard NHS panel to analyse over 200 conditions, empowering parents and clinicians with clear, actionable insights during the most critical window for intervention.

Key Benefits

> Early detection of genetic and metabolic conditions.

> Advanced genetic confirmation for precise diagnosis.

> Helps ensure timely intervention and treatment. 

> Non-invasive, newborn-friendly testing process.

what do we analyse

Scope of Analysis: Comprehensive Newborn Screening Test

Pathogenic Variant Detection

A clear summary of any pathogenic or likely pathogenic variants identified, including the associated genes, conditions, and clinical significance.

Examples of detected conditions include:

  • Neuronal ceroid lipofuscinosis 2 (TPP1)
  • Cone-rod dystrophy 3 (ABCA4)
  • Adrenoleukodystrophy (ABCD1)
  • Spinal muscular atrophy (SMN1)
  • Congenital ichthyosis (ALOXE3, CYP4F22)
  • Inherited cardiomyopathies (e.g., MYH7, TTN)
  • Hyperinsulinaemia (ABCC8, KCNJ11)
  • Lysosomal storage disorders (e.g., Gaucher, Tay-Sachs)
  • Hearing and vision loss conditions (e.g., GJB2, USH2A)
  • Severe immunodeficiencies (e.g., SCID, CGD)

Clinical Condition Summaries

A detailed table listing:

  • All genes and associated conditions screened.
  • Variant classification (e.g., benign, pathogenic).
  • Genomic coverage depth and quality metrics.
  • Presence or absence of clinically relevant findings.

Full Gene–Disease Analysis Table

A detailed table listing:

  • All genes and associated conditions screened.
  • Variant classification (e.g., benign, pathogenic).
  • Genomic coverage depth and quality metrics.
  • Presence or absence of clinically relevant findings.

Carrier Status Insights

If carrier variants are detected (e.g., for cystic fibrosis or Tay-Sachs), your report includes:

  • The gene and condition involved.
  • Reproductive implications.
  • Recommendations for parental or family testing, where relevant.

Clinical Guidance and Next Steps

Your report offers medically actionable next steps, including:

  • Follow-up testing suggestions.
  • Referral guidance for clinical genetics or paediatrics.
  • Suggested timing for additional assessments or monitoring.

What's included in your newborn screening report?

Endocrine and Metabolic Disorders

Including phenylketonuria, maple syrup urine disease, galactosemia, congenital adrenal hyperplasia, and glycogen storage diseases.

Including phenylketonuria, maple syrup urine disease, galactosemia, congenital adrenal hyperplasia, and glycogen storage diseases.

Inherited Immunodeficiencies

Such as severe combined immunodeficiency (SCID), agammaglobulinemia, and complement deficiencies.

Such as severe combined immunodeficiency (SCID), agammaglobulinemia, and complement deficiencies.

Neuromuscular Disorders

Including spinal muscular atrophy (SMA), Duchenne muscular dystrophy, and congenital myopathies.

Including spinal muscular atrophy (SMA), Duchenne muscular dystrophy, and congenital myopathies.

Hearing Loss and Vision Disorders

Detects genetic forms of sensorineural deafness and early-onset retinal diseases.

Detects genetic forms of sensorineural deafness and early-onset retinal diseases.

Cardiac and Circulatory Disorders

Screens for hypertrophic and dilated cardiomyopathies, arrhythmias (e.g., Long QT Syndrome), and congenital heart malformations.

Screens for hypertrophic and dilated cardiomyopathies, arrhythmias (e.g., Long QT Syndrome), and congenital heart malformations.

Lysosomal and Peroxisomal Storage Disorders

Including Tay-Sachs, Gaucher disease, mucopolysaccharidoses, and Zellweger spectrum disorders.

Including Tay-Sachs, Gaucher disease, mucopolysaccharidoses, and Zellweger spectrum disorders.

Haematologic Conditions

Including thalassemias, sickle cell disease, and other inherited anaemias and clotting factor deficiencies.

Including thalassemias, sickle cell disease, and other inherited anaemias and clotting factor deficiencies.

Ciliopathies and Syndromic Disorders

Such as Joubert syndrome, Bardet-Biedl syndrome, and congenital disorders of glycosylation.

Such as Joubert syndrome, Bardet-Biedl syndrome, and congenital disorders of glycosylation.

Frequently Asked Questions

What is the Phenome Longevity Newborn Screening Test?

Our Newborn Screening Test is a comprehensive genetic and metabolic test designed to identify potential health conditions in newborns-early and accurately. It screens for hundreds of treatable metabolic, endocrine, immunological, and genetic disorders, offering parents peace of mind and the opportunity to take proactive steps for their baby’s well-being from day one.

How does the test work?

  1. Collect the sample from your newborn using the easy-to-follow instructions in the kit.
  2. Send the sample to our certified lab following the detailed instructions.
  3. Our experts analyze the sample using advanced genetic and metabolic screening technology.
  4. Within 2 weeks, you’ll receive a secure, digital report in the SZA Longevity App, with detailed results and guidance on any next steps if needed.

Who should take this test?

This test is ideal for:

  • New parents or caregivers who want to ensure their newborn receives early, comprehensive health screening
  • Families with a history of inherited or metabolic conditions
  • Parents who want to go beyond standard hospital screenings and access a more detailed panel 
  • Anyone seeking greater clarity and confidence in their baby’s early health journey

What are the benefits?

  • Detect potential health conditions before symptoms appear. 
  • Gain access to early interventions and treatments that can significantly improve long-term outcomes. 
  • Go beyond basic hospital screenings with a more comprehensive and personalized approach. 
  • Receive clear, easy-to-undestand results within our secure app. 
  • Enjoy peace of mind knowing you’ve taken a proactive step toward your baby’s future health.