Pedi 1000 Newborn Whole Genome Sequencing Test

1,000 Paediatric Newborn Whole Genome Screening

Comprehensive Protection for Future Health

At birth, a newborn may have hidden health conditions that do not show obvious symptoms early on, but could later affect their development, metabolism, immune system, or nervous system.

The 1,000 Paediatric Screening can detect over 1,000 potential health conditions present at birth, covering development, metabolism, immunity, heart health, endocrinology, neuromuscular disorders, and autism spectrum disorder. This helps parents and clinicians identify health risks early to arrange timely, appropriate medical follow-ups.

Why Consider Newborn Whole Genome Screening?

Traditional newborn screening usually tests for selected common or specified conditions. Whole genome screening can analyse a wider range of potential genetic health risks in one test.


With more comprehensive genetic information, doctors can develop more suitable medical care and health management plans according to each child’s situation. This may help identify risks early, reduce delays in diagnosis and provide more references for the child’s long-term healthy development.

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Screening Coverage

The 1,000 Paediatric Newborn Whole Genome Screening covers multiple critical areas related to children’s long-term health:

  • Developmental Concerns: Autism spectrum disorder, language problems, learning, and cognitive difficulties.
  • Metabolic Conditions: Evaluating how the body processes, breaks down, and utilizes nutrients.
  • Heart Conditions: Congenital heart defects, abnormal heart rhythms, and related cardiovascular risks.
  • Oncology Risks: Early detection and risk assessment of potential childhood cancers.
  • Allergy & Immune Concerns: Severe food allergies, frequent infections, and related immune disorders.
  • Hormonal & Endocrine Issues: Early-onset diabetes, precocious puberty, and associated conditions.
  • Neuromuscular Conditions: Muscle weakness, structural difficulties with walking or climbing stairs, and related symptoms.
How Can Screening Help?

The 1,000 Paediatric Newborn Whole Genome Screening provides early, comprehensive health risk insights, empowering parents and doctors to make proactive, informed health management decisions.

Potential clinical benefits include:

  • Early identification of latent genetic health risks
  • Assisting physicians in determining next steps, reducing the risk of delayed diagnosis
  • Formulating personalized medical, care, and long-term health management plans
  • Facilitating timely specialist referrals and structured monitoring when clinically indicated
How Is It Different from Traditional Newborn Screening?

Traditional newborn screening usually focuses on a specified number of common conditions, while whole genome screening analyzes a broader range of genetic health risks in a single test.

ItemTraditional Newborn Screening1,000 Paediatric Newborn Whole Genome Screening
Screening ScopeFocuses primarily on selected, common conditions.Comprehensive coverage of over 1,000 potential health conditions.
Testing FocusMainly targets predefined metabolic disorders or specified conditions.Broadly covers development, metabolism, immunity, heart health, endocrinology, neuromuscular conditions, and more.
Health ManagementSupports early identification of specific target diseases.Provides broader genetic risk data, enabling targeted clinical follow-ups for all screened conditions.
Clinical PurposeEarly detection and immediate intervention for specific conditions.Empowers families and doctors to establish proactive, highly personalized long-term health management plans.
Which Newborns Is This Suitable For?

This screening is designed for families who wish to proactively identify potential health risks or build a foundational, life-long medical record for their child. It is highly recommended for:

  • Parents seeking a deeply comprehensive health and genetic screening beyond standard newborn tests.
  • Families with a known history of genetic conditions, hereditary disorders, or unexplained illnesses.
  • Parents who want an early baseline risk assessment for developmental, metabolic, immune, or cardiac concerns.
  • Newborns who have exhibited unexplained clinical symptoms or health challenges post-birth.
  • Cases where prenatal screenings or postnatal checks indicated a need for further medical evaluation.
  • Families wishing to map out a highly personalized, long-term pediatric healthcare and preventive plan.
Enquiry and Booking

Knowing your child’s genetic risks early helps tailor their health management. We offer professional screening, assessment, and report interpretation to guide your family’s decisions.

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