Pediatric Neurodevelopmental Disorders

Fewer uncertain results. Superior diagnostic yields. Increasing insurance coverage. Supported by medical guidelines. The time for exome is now.

An estimated 44% of patients with neurological disorders will receive a delayed or incorrect diagnosis1, and patients with rare neurodevelopmental disorders wait over 6 years on average for a diagnosis.2

But it doesn’t have to be this way for your patients.

Whole exome sequencing (WES) is a comprehensive, cost-effective option that is recommended for patients with conditions such as unexplained epilepsy, cerebral palsy, autism spectrum disorder, intellectual disabilities, congenital anomalies, and developmental delays.3-6

Exome testing offers a comprehensive genomic assessment

For patients with unknown or unexplained pediatric conditions, exome testing can significantly reduce the time to diagnosis – sometimes by more than six years – sparing your patients years of missed milestones, widened developmental gaps, the strain of uninformative tests, and inefficient treatments.2,3

This is why leading medical societies, including the American College of Medical Genetics and Genomics (ACMG), the National Society of Genetic Counselors (NSGC), and the American Epilepsy Society (AES), recommend exome or genome sequencing as a first-tier test.3,4

GeneDx accepts all commercial insurance, Medicaid, and Medicare

Insurance coverage is expanding. Over 70% of commercial health plans cover exome testing when patients meet clinical criteria, and state Medicaid programs are adopting coverage policies for exome too.7,8

4 out of 5 GeneDx patients who received exome testing had $0 out-of-pocket responsibility for testing.9

Flexible billing and payment options. Cost shouldn’t be a barrier to getting critical health information. Our billing experts work with families to access the testing they need. We offer flexible payment plans and a Financial Assistance Program for eligible patients.

Research shows the clinical utility of exome

Comprehensive genetic testing like exome sequencing can unlock the potential for more effective treatments and can lead to changes in medical management in up to 30% of cases.5

Narrower tests leave patients behind.

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Whole exome sequencing looks at ~20,000 genes, has more than twice the diagnostic yield of chromosomal microarray (~40% compared to 15-20%)10 and delivers more diagnostic information than gene panel testing.11
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Research shows that 23% of patients diagnosed with exome testing would not have received a diagnosis with a panel.12
Help your patients get the care they need earlier.
Order Exome

Nearly 75% of families of rare disease patients report wanting a diagnostic test.1 Help them find clearer answers and guide a more personalized care plan with exome.

For your patients with complex or rare diseases, a precise diagnosis can mean more than changes in medical management.5 Identifying a unifying genetic cause of your patient’s symptoms can open the door to:

  • Clinical trial eligibility
  • Connection to advocacy and community groups
  • More informative prognostic information

GeneDx - your trusted genetic testing experts

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We’re in this together. GeneDx is driven to help make precision medicine the standard of care for your patients. With a team of genetic counselors, MD/PhD scientists, and clinical and molecular diagnostics specialists, we provide the support you need during the genetic testing process to understand ordering, results interpretation, and everything in between. We also provide comprehensive genetic counseling services for your patients from our team of board-certified genetic counselors.
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Results matter. GeneDx offers greater diagnostic accuracy by leveraging our curated dataset of over 400,000 clinical exomes, which enables us to deliver more definitive diagnoses and clinically actionable reports. Every patient sample strengthens our industry-leading interpretation platform, empowering us to deliver diagnoses, even in the most complex cases.
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And experience matters. GeneDx was spun out of the National Institutes of Health (NIH) over 20 years ago. We haven’t lost sight of our origins in research either – we regularly contribute scientific findings to the genetics and genomic communities and beyond, further fueling innovation and improved diagnostics for more and more patients.13
With comprehensive care from start to finish, we offer more than just a test result. Experience the GeneDx difference and help your patients find answers.

References

  1. Childneurologyfoundation.org. https://www.childneurologyfoundation.org/2021-caregiver-needs-data/ Published 2022. Accessed May 25, 2022.
  2. Soden SE, Saunders CJ, Willig LK, et al. Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. Sci Transl Med. 2014 Dec 3;6(265):265ra168. doi: 10.1126/scitranslmed.3010076.
  3. Manickam K, McClain MR, Demmer LA, et al. Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23(11):2029-2037. doi: 10.1038/s41436-021-01242
  4. Smith L, Malinowski J, Ceulemans S, et al. Genetic testing and counseling for the unexplained epilepsies: An evidence-based practice guideline of the National Society of Genetic Counselors. J Genet Couns. 2022 Oct 24. Doi.org/10.1002/jgc4.1646
  5. Srivastava S, Love-Nichols JA, Dies KA, et al. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med. 2019 Nov;21(11):2413–2421; https://doi.org/10.1038/s41436- 019-0554-6
  6. Srivastava S, Lewis SA, Cohen JS, et al. Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis. JAMA Neurol. 2022 Dec 1;79(12):1287-1295. doi: 10.1001/jamaneurol.2022.3549
  7. Total commercial payer targets represent >93% of commercially insured lives in US. Based on covered life data from DRG database accessed on September 13, 2022.
  8. Policy Report Database
  9. Internal data.
  10. Savatt JM, Myers SM. Genetic Testing in Neurodevelopmental Disorders. Front Pediatr. 2021 Feb 19;9:526779. doi: 10.3389/fped.2021.52679. eCollection 2021. doi: 10.3389/fped.2021.526779
  11. Rehm H, Alaimo JT, Aradhya S, et al. Genomic sequencing tests generate less uncertainty and higher diagnostic yield compared to multi-gene panel-based tests: Results of over 1.5 million tests. MedRxiv. Preprint. September 22, 2022. Accessed December 30, 2022. doi: 10.1101/2022.09.21.22279949.
  12. Dillon OJ, Lunke S, Stark Z, et al. Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders. Eur J Hum Genet. 2018 May;26(5):644-651. doi: 10.1038/s41431-018-0099-1. Epub 2018 Feb 16.
  13. McWalter K, Torti E, Morrow M, et al. Discovery of over 200 new and expanded genetic conditions using GeneMatcher. Hum Mutat. 2022;1-5. doi: 10.1002/humu.24351.