Precise genetic answers for pediatric neurologists to move diagnosis and care forward
Why test?
Actionable results, supported every step of the way
- Comprehensive testing that can identify ~5000 genetic conditions, providing precise answers, and shortening the path to diagnosis1
- Fast results – within days or weeks – to prevent delays in care
- Simple-to-interpret reports support clinicians to make accurate diagnoses and provide guidance on treatments or medical management
- Dedicated team of >150 genetic counselors2 can help interpret findings, explain them, and connect families with resources, support groups, or specialist referrals
Trusted answers clinicians rely on for better care
- #1 genetic testing brand for diagnosing pediatric neurodevelopmental disorders,3 with GeneDx Infinity™ drawing on insights from >2.5 million tests4
- Recommended or endorsed by leading medical societies as a first-line test, including the American Academy of Pediatrics (AAP),5 American College of Medical Genetics & Genomics (ACMG),6 the National Society of Genetic Counselors (NSGC), and the American Epilepsy Society (AES)7
Easy to order, easy to access
Doctor orders your test
- Streamlined ordering across test types, designed to fit a range of clinical workflows including Epic Aura
- Clear, transparent billing designed to reduce surprises and administrative friction
- Broad patient access and in-network coverage,8 helping more patients get the testing they need
- Epilepsy Partnership Program helps ensure access to recommended exome testing for eligible children with epilepsy
What the evidence says about genetic diagnosis
Nearly 1 in 26 children is affected by a genetic condition,9 underscoring the importance of genetic testing in pediatrics The majority, ~85%, of known disease-related variants are found within the exome,10 making exome testing a powerful diagnostic tool.
Cerebral Palsy
For pediatric patients, exome sequencing delivered 35% diagnostic yield, rising to 38% for those with co-occurring NDDs.11, 12, 13
Autism
Epilepsy
GDD/ID
#1 Genetic test
GeneDx is the #1 preferred genetic test for patients by pediatric and genetic physicians.3 Trusted by more than 75,000 health care providers worldwide.17
Exome sequencing
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.
Genome sequencing
The most complete view of the genome, providing deeper insights beyond the exome when a broader search is needed.
Powered by the largest rare disease dataset
Our unmatched dataset fuels deeper insights and enables more accurate diagnoses combined with AI and clinical expertise. It draws on 2.5+ million genetic tests,4 nearly 1 million exomes and genomes,18 and 7 million phenotypic data points,19 GeneDx Infinity grows every day, fueling the discovery of new treatments and enabling precision medicine.
Clinical support for you
Real families, real answers
Families across the country have found clarity with GeneDx — ending years of uncertainty and opening doors to better care.
Meet Carlotta & Andrea
"Carlotta was undiagnosed for 18 months until we were finally able to access whole exome sequencing to identify the underlying cause of her issues: PIGN-CDG. While it doesn’t necessarily change her immediate prognosis, it does change what the long-term prognosis could be. We wouldn’t have options if we didn’t understand what exactly it was that we were dealing with.”—Andrea
Helpful resources
Expanding access to exome sequencing in epilepsy
Many insurers recognize the clinical value of exome sequencing for unexplained epilepsy. The Epilepsy Partnership Program expands access to testing for eligible patients, even when coverage is limited.
Why order exome for unexplained epilepsy
Neurogenetics experts discuss why exome sequencing should be considered early for patients with unexplained epilepsy. Dr. Isabella Herman (Boys Town National Research Hospital) shares clinical insights and real-world experienc.
Finding answers through exome sequencing
Finding
For children like Oliver,* exome sequencing delivered a definitive diagnosis after uncertainty. See how one test helped clarify the cause and inform next steps in care.
Genomic testing in epilepsy and cerebral palsy
Finding
Learn how exome and genome sequencing can uncover genetic etiologies in epilepsy and cerebral palsy. This session explores when and how genomic testing can impact diagnosis and management.
Exomes and genomes in clinical practice
This webinar reviews the benefits and limitations of panel testing, chromosomal microarray, exome sequencing, and genome sequencing. Designed to support informed test selection in complex neurodevelopmental cases.
Why putting exome testing first matters
William’s early motor delays, speech challenges, and evolving symptoms were not genetically evaluated until years later. Earlier exome sequencing could have delivered answers within weeks instead of after seven years and the onset of seizures.
The cost of delayed genetic testing
Claire developed seizures in infancy alongside developmental delay. Ordering exome sequencing as a first-line test could have provided answers within weeks—rather than nearly two years.
Meet with our team at AAN
Finding
We’ll be at the American Academy of Neurology Annual Meeting and available to connect one-on-one. Schedule time to discuss real cases from your practice, testing strategies for complex patients, and how exome sequencing can support earlier, more confident diagnoses