Life Baby Test

What is the new Life Baby Test?

The Life Baby Test is now a full clinical Whole Exome Sequencing (WES) test for newborns and young children.

Instead of analysing a limited list of genes, we sequence all protein-coding regions (~20,000 genes) of your baby’s DNA at an average depth of 100× coverage, performed by our partner laboraotry.

G-Life then performs independent bioinformatic analysis and clinical interpretation, focusing on childhood-onset and early-onset genetic conditions, and provides you with a clear, clinically oriented report and genetic consultation.

All of this is done from a simple cheek swab, without needles.

Recommended for parents and pediatrician to know whether to take proactive steps, sooner, to care for baby’s health.

What does Life Baby test for?

Whole Exome Sequencing allows us to investigate a very broad spectrum of disorders that may appear:

• shortly after birth
• during infancy and early childhood
• or sometimes later, but with early subtle signs.

The Life Baby Test focuses on:

1. Treatable metabolic and endocrine disorders

• inborn errors of metabolism
• disorders of amino acid, organic acid and fatty acid oxidation
• certain endocrine and hormonal conditions
• conditions where early diagnosis allows diet, medication or cofactor therapy to prevent severe disability

2. Neurodevelopmental and neurological conditions

• global developmental delay and intellectual disability
• hypotonia, movement disorders, muscular hypotrophy or weakness
• early-onset epilepsies and seizure syndromes
• autism spectrum and syndromic neurodevelopmental disorders

3. Congenital anomalies and syndromes

• multiple congenital anomalies affecting different organs
• craniofacial dysmorphisms and suspected genetic syndromes
• cardiomyopathies and structural heart disease with suspected genetic origin
• renal, hepatic, skeletal or other organ malformations linked to known genes

4. Immunological and other early-onset systemic diseases

• other serious childhood-onset genetic diseases where a genetic diagnosis changes management, follow-up or family planning.

• primary immunodeficiencies and immune dysregulation syndromes

• some forms of hereditary anaemia, bleeding disorders and bone marrow failure

Actionable and clinically focused findings

The primary aim of Life Baby is to identify genetic conditions where knowing the diagnosis can change medical care, for example:

• starting a specific diet or vitamin/cofactor therapy
• avoiding certain drugs or anaesthetic agents
• adapting vaccination schedule or infection prophylaxis
• planning targeted surveillance (heart, eyes, hearing, kidneys, etc.)
• organising early developmental interventions and therapies

By default, we prioritise childhood-onset and clinically actionable findings.
Additional categories of results (for example, adult-onset conditions) can be discussed and tailored according to the wishes of the parents and the treating physician.

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When to consider the Life Baby Test?

Life Baby is particularly useful when a baby or young child has:

• unexplained seizures, episodes of loss of consciousness or abnormal movements
• severe hypotonia, feeding difficulties or failure to thrive
• multiple congenital anomalies or a suspected genetic syndrome
• persistent abnormal laboratory findings (e.g. metabolic markers, liver enzymes, lactic acidosis)
• developmental delay (motor, speech, social) without a clear cause
• a strong family history of genetic or unexplained early deaths in childhood

It can also be considered when:

• initial investigations (standard metabolic tests, imaging, karyotype or microarray) are inconclusive
• doctors and parents want to avoid a long “diagnostic odyssey” with many separate tests.

The Life Baby Test does not replace clinical assessment. It is most powerful when interpreted together with the child’s medical history, examination and other test results.

PRICE – 700 EUR

The price includes:
– the Life Baby kit and sample collection,
– 100× Whole Exome Sequencing by Dante Labs,
– G-Life bioinformatic analysis and clinical interpretation,
– and a post-result genetic consultation.

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Technology & Laboratory Workflow

• Sample type: buccal (cheek) swab – gentle and non-invasive, suitable even for newborns
• Sequencing:
  • Whole Exome Sequencing (WES) of ~20,000 genes
  • performed by partenr lab with an average of 100× coverage, enabling accurate detection of rare variants in exonic regions.
• Bioinformatics & interpretation:
  • raw data are processed through G-Life’s clinical pipelines
  • variants are filtered and classified according to international guidelines (ACMG/AMP where applicable)
  • focus on pathogenic and likely pathogenic variants, and well-supported risk variants relevant for pediatric disease

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What do you receive?

With the Life Baby Test you receive:

• a comprehensive clinical report describing:
  • whether a definitive or likely genetic diagnosis was found
  • which gene and variant(s) are involved
  • inheritance pattern and implications for siblings and future pregnancies
  • recommended next steps for medical management and follow-up
• clear explanations written for both physicians and parents
• indication of whether additional family testing is recommended (e.g. testing parents for the same variant)
• a genetic consultation with a G-Life geneticist to:
  • go through the results in detail
  • answer your questions
  • discuss options for treatment, surveillance and reproductive planning.

All you need to do!