Neurodevelopmental disorders

Genetic testing for pediatric neurodevelopmental disorders

Exome sequencing can enable earlier diagnoses for children with neurodevelopmental disorders.

More than 50% of people with a rare condition are misdiagnosed or received a delayed diagnosis¹

It doesn’t have to be this way for your patients. Exome and genome sequencing provide a comprehensive evaluation that improves diagnostic efficiency and shortens the diagnostic odyssey.²‍

Genetic testing is recommended for children with developmental delay, intellectual disability, epilepsy, and other neurodevelopmental disorders, and may begin with whole exome sequencing

Leading medical societies recommend exome sequencing as a first-tier test for neurodevelopmental disorders

The National Society of Genetic Counselors (NSGC), American College of Medical Genetics and Genomics (ACMG), American Academy of Pediatrics (AAP), and the American Epilepsy Society (AES) recommend or endorse whole exome sequencing as a first-tier genetic test for many patients with neurodevelopmental disorders.^3,4,5

Broad clinical application

Select one to learn more.

Meet Claire

Claire initially began experiencing unexplained seizures at the age of 5 months; her parents also noticed a delay in her development. Ordering GeneDx exome as a first-line test could have meant answers within weeks. Yet ordering stepwise testing meant it instead took almost two years.

Meet Oliver

See how one test delivered answers for Oliver and gave him a clear path forward.^†

Young child with braided hair hugging an adult wearing a gray hoodie in a softly lit room.

Helpful resources

GeneDx Infinity™

Infinity is powered by data from over 2.5 million tests–informed by nearly 1 million exomes and genomes and more than 7 million phenotypic datapoints – to help you uncover answers faster and fuel the discovery of life-changing treatments.

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