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Exome sequencing for pediatric neurodevelopmental disorders

Recommended by leading medical societies

44% of patients with neurological disorders have received a delayed or incorrect diagnosis.1

It doesn’t have to be this way for your patients. Exome sequencing offers a comprehensive assessment that can reduce the time to diagnosis.2

Leading medical societies recommend exome sequencing as a first-tier test.3,4

The National Society of Genetic Counselors (NSGC), American College of Medical Genetics and Genomics (ACMG), and the American Epilepsy Society (AES) recommend exome for patients with conditions such as:3,4

  • unexplained epilepsy
  • intellectual disability
  • congenital anomalies
  • global developmental delays
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Meet James*

A 6-year-old male with autistic features, mild intellectual disability, ADHD, and short stature. He has an 18-month-old brother who has delayed developmental milestones.

See James’s journey

Meet Claire*

A 6-month-old female presenting with developmental delay and seizures. Claire initially began experiencing frequent seizures at the age of 5 months and her parents also noticed a delay in her development overtime. She was referred to a pediatric neurologist.

See Claire’s journey Right arrow

With comprehensive care from start to finish, GeneDx offers more than a test result. Experience the GeneDx difference and help your patients find answers.

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COMMON QUESTIONS

Narrower tests leave patients behind:

  • Exome offers more than twice the diagnostic yield of chromosomal microarray (CMA): ~40% compared to 10-20%.5-7
  • Exome sequencing reports 30% fewer inconclusive results than multi-gene panels.8
  • Research shows that 23% of patients diagnosed with exome sequencing would not have received a diagnosis with a panel.9

Of parents of children with autism spectrum disorder whose child has not been tested, 50-70% said they would want testing.10,11 For patients with complex or rare diseases, a precise diagnosis can mean more than changes in medical management.12 Identifying a unifying genetic cause of your patient’s symptoms can open the door to clinical trial eligibility, connections to advocacy and community groups, and more informative prognostic information.

GeneDx’s exome sequencing is among the best in the industry. We offer greater diagnostic accuracy by leveraging our curated dataset of over 500,000 clinical exomes, which enables us to deliver more definitive diagnoses and clinically actionable reports. That can help inform diagnoses, direct treatments, and deliver hope.

*Fictionalized case study for illustrative purposes only

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. 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
  4. 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 
  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. Internal data.
  7. Clark, MM, et al. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases. NPJ Genom Med. 2018 Jul 9;3:16.  
  8. Rehm H, Alaimo JT, Aradhya S, et al. The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change. Genet Med, 25(12), 100947.  https://doi.org/10.1016/j.gim.2023.100947.
  9. 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.
  10. Harrington JW, Emuren L, Restaino K, et al. Parental Perception and Participation in Genetic Testing Among Children With Autism Spectrum Disorders. Clin Pediatr (Phila). 2018 Dec;57(14):1642-1655. doi: 10.1177/0009922818803398. Epub 2018 Sep 28.
  11. Zhao S, Chen WJ, Dhar SU, et al. Pursuing genetic testing for children with autism spectrum disorders: What do parents think? J Genet Couns. 2021 Apr;30(2):370-382. doi: 10.1002/jgc4.1320. Epub 2020 Sep 28
  12. 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