Developmental paediatrics

Placing genetics at the core of medical decisions

Developmental paediatrics genetic testing is used to identify germline pathogenic variants that cause neurodevelopmental disorders, including global developmental delay, intellectual disability and autism spectrum disorder. These conditions are genetically highly heterogeneous, with causative variants distributed across hundreds of genes. Recognisable entities include e.g., the such as and , the imprinting disorders and, and , alongside other syndromes such as and . Inheritance is heterogeneous, spanning autosomal dominant, autosomal recessive and X-linked forms. establishes comprehensive genetic testing as a central, first- or second-tier tool in the paediatric work-up. A precise molecular diagnosis confirms the underlying condition, informs prognosis and recurrence-risk counselling, and increasingly guides access to emerging gene-targeted therapies.

Developmental paediatrics genetic testing

Genetic testing is considered when a child presents with unexplained developmental delay, intellectual disability, or autism. Identifying the underlying molecular cause confirms the diagnosis, informs recurrence-risk counselling and enables condition-specific management. For example, across 102 studies of 55,752 children with global developmental delay or intellectual disability, comprehensive genetic testing established a molecular cause in 37%.

Genetic testing is clinically relevant for the following indications, including but not limited to:

Children with unexplained global developmental delay or intellectual disability
Children diagnosed with autism spectrum disorder
Infants with congenital anomalies or features suggesting a genetic cause
Children with cerebral palsy of unexplained aetiology

Testing is typically requested by paediatricians, paediatric neurologists and clinical geneticists.

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Our editorial team consists of medical specialists and scientists in the field of human genetics. All content is created and reviewed in accordance with current scientific standards.

How to order a genetic test

Select the right test for your patients. Contact our team in case you do not have an active contract yet.

Collect the sample. Download and fill in the order and consent form or access our portal (available for sample sent to Germany).

Properly pack the sample and send it to Medicover Genetics.

The sample will be analysed in our accredited laboratories.

An actionable report will be available for you to access safely and securely.

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Why Medicover Genetics

Leader in genetic testing with >25 years of experience in counselling and diagnostics

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End-to-end clinical workflow from sample processing to sequencing analysis and reporting

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