Neurodevelopmental disorders
Genetic Testing for Neurodevelopmental Disorders
End the diagnostic odyssey for neurodevelopmental disorders with earlier genetic diagnosis.
Neurodevelopmental disorders affect 1 in 6 children,1 and up to 50% of developmental delay and intellectual disability cases have an underlying genetic cause.2
An earlier genetic diagnosis guides care, unlocks access to therapies, and connects families to the support they need.³
That’s why exome sequencing is recommended as a first-line test for many neurodevelopmental disorders.
Neurodevelopmental disorders are common, complex, and often have genetic causes.
- 1–3% of children are diagnosed with global developmental delay/intellectual disability (GDD/ID)4
- Just over 1 million children in the U.S. have intellectual disability1
- Over 800 genes and dozens of genetic syndromes are associated with autism spectrum disorder (ASD)5
- Up to 50% of GDD/ID cases are attributable to an underlying genetic condition6
- ASD frequently co-occurs with other conditions: approximately 74% of individuals with ASD have comorbidities such as ID or seizures7
Clinical guidelines recommend exome sequencing for neurodevelopmental disorders
Professional guidelines recommend exome sequencing as a first-tier test for many neurodevelopmental disorders, including developmental delay and intellectual disability.
When genetic causes are common and highly heterogeneous, broad genomic testing can be more effective than sequential or panel-based testing.
Guideline Recommendations
- ACMG Practice Guideline:
The American College of Medical Genetics and Genomics (ACMG) recommends exome or genome sequencing as a first-tier test for patients with developmental delay or intellectual disability with onset before age 18.8 - AAP Clinical Report:
The American Academy of Pediatrics recommends exome or genome sequencing as a first-tier test for children with global developmental delay or intellectual disability in most circumstances.9
When genetic causes are common and heterogeneous, broad testing is often more effective than sequential testing.
NDDs are genetically complex
Neurodevelopmental disorders are highly heterogeneous, with hundreds of associated genes5 and significant genetic overlap across developmental delay, intellectual disability, autism, epilepsy, and congenital anomalies.10
Sequential or panel-based approaches may not capture this breadth.
How a genetic diagnosis impacts clinical management
Earlier recognition of an underlying genetic disorder can:14, 3
- End the diagnostic odyssey
- Inform more specific medical management
- Identify precision medicine opportunities as they emerge
- Clarify prognosis and anticipate comorbidities
- Guide surveillance strategies
- Provide inheritance and recurrence risk counseling
- Direct families to advocacy groups and therapy services
- Support access to clinical trials
Across studies, approximately 30% of cases resulted in medication or management changes.15
The sooner a diagnosis is identified, the sooner appropriate supports can begin, and the benefits of early intervention are well established.15
The leader in pediatric neurodevelopmental genetic testing.16
GeneDx supports clinicians across the full diagnostic journey — from selecting the right test to interpreting results and guiding next steps for families.
- Powered by GeneDx Infinity™, our genomic data platform enables deeper variant classification and interpretation, and supports more confident diagnoses in complex neurodevelopmental cases.17
- Our team includes more than 150 genetic counselors and clinical specialists who partner with providers to support test selection, results interpretation, and follow-up care planning.18
- Insurance investigation, billing support, and patient assistance programs help reduce administrative burden and improve access to testing.
- Trusted by over 75,000 healthcare providers19
When genetic causes are common and heterogeneous, broad testing is often more effective than sequential testing.
Families want answers
Among parents of children with autism spectrum disorder whose child has not been tested, 50–70% report they would want genetic testing.20
Families are seeking clarity, and clinicians need tools that align with both evidence and expectations.
Move forward with guideline-recommended genetic testing
ExomeDx™
Often the first, most effective step when a genetic cause is
suspected. That’s because most known disease-causing variants are found within the exome.
GenomeDx™
The most complete view of the genome, providing deeper insights
beyond the exome when a broader search is needed.
Not sure which genomic test to order? Our clinical specialists can help determine when genomic testing may be appropriate and how to integrate exome or genome sequencing into your clinical workflow.
.svg)
Helpful resources
Help your patients find answers
We’re here to support every step.