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Find answers with exome

One test. Big picture. Brighter futures.

Whole exome sequencing is more likely to deliver a genetic diagnosis than multigene panels or chromosomal microarray.

70% of genetic disorders start in childhood.1 Yet, on average, a pediatric patient searching for a diagnosis:

  • waits up to 5 years2
  • undergoes 5 uninformative medical tests3 
  • incurs $10,000 in healthcare costs before reaching a diagnosis3

Every day without a genetic diagnosis is a missed opportunity

An earlier genetic diagnosis is proven to:4,5

  • change medical management
  • result in more timely treatment options
  • reduce medical interventions
  • identify resources and support for parents and family members

Recommended as a first‑line test

American College of Medical Genetics and Genomics recommends exome or genome as a first-tier test for developmental delay, intellectual disability, and congenital anomalies.15

Explore exome for pediatric developmental disorders Right arrow

National Society of Genetic Counselors recommends exome or genome sequencing for all individuals with unexplained epilepsy. This guideline is endorsed by the American Epilepsy Society.16 

Explore exome for neonatal & pediatric critical care patients Right arrow

Exome finds answers that other tests can miss

Choosing exome sequencing can shorten the journey to a diagnosis, resulting in updated medical management and reduced healthcare expenses.

2x

The diagnostic rate of exome testing is 2x greater than chromosomal microarray.4,6

23%

23% of patients diagnosed via exome testing would not have received a diagnosis with a genetic panel.7

Exome sequencing test options

XomeDx®, the GeneDx exome test, analyzes the protein-coding regions of approximately 20,000 genes to identify genetic changes that may be the underlying cause of a patient’s symptoms or condition. Select trio, duo or proband.
Turnaround time: 6 weeks* 

XomeDx® Plus consists of concurrent evaluation of the exome and mitochondrial genome using two separate assays. Separate result reports will be issued for the exome analysis and the mitochondrial genome analysis. XomeDx® Plus is best suited for individuals with clinical features suggesting a mitochondrial disorder. Select trio, duo, or proband.
Turnaround time: 6 weeks* 

XomeDxXpress®, the GeneDx exome test with rapid turnaround, is ideal for acutely or critically ill patients who need answers fast. Select trio, duo, or proband.
Turnaround time: provisional results within 7 days, full written report within 2 weeks* 

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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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 Right arrow

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

Meet Anne†

A newborn presenting with colonic atresia. Anne received surgery to repair the colonic atresia on day two of life and was transferred to the NICU following the procedure for post-operative monitoring and management. There, she experienced some concerns.
See Anne’s journey Right arrow

Meet Billy†

An infant presenting with hypotonia at birth. His brother died on day 1 of life with similar presentation.
See Billy’s journey Right arrow

*Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.

†Fictionalized case study for illustrative purposes only

References

  1. Nguengang Wakap S, Lambert DM, Olry A, et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020 Feb;28(2):165-173. doi: 10.1038/s41431-019-0508-0.  
  2. Marwaha S, Knowles JW, and Ashley EA. A guide for the diagnosis of rare and undiagnosed disease: beyond the exome. Genome Med. 2022 Feb 28;14(1):23. doi: 10.1186/s13073-022-01026-w.  
  3. 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. 
  4. Savatt JM, Myers SM. Genetic testing in neurodevelopmental disorders. Front Pediatr. 2021 Feb 19;9:526779. doi: 10.3389/fped.2021.52679.  
  5. Malinowski, J., Miller, D.T., Demmer, L. et al. Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability. Genet Med. 22, 986–1004 (2020). https://doi.org/10.1038/s41436-020-0771-z.  
  6. 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.  
  7. 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.  
  8. Pekeles H, Accogli A, Boudrahem-Addour N, Russell L, Parente F, Srour M. Diagnostic yield of intellectual disability gene panels. Pediatr Neurol. 2019 Mar;92:32-36. doi: 10.1016/j.pediatrneurol.2018.11.005.  
  9. Stefanski A, Calle-López Y, Leu C, et al. Clinical sequencing yield in epilepsy, autism spectrumdisorder, and intellectual disability: A systematic review and meta-analysis. Epilepsia. 2021 Jan;62(1):143-151. doi: 10.1111/epi.16755.  
  10. Mellone S, Puricelli C, Vurchio D, et al. The usefulness of a targeted next generation sequencing gene panel in providing molecular diagnosis to patients with a broad spectrum of neurodevelopmental disorders. Front Genet. 2022 Aug 11;13:875182. doi: 10.3389/fgene.2022.875182.  
  11. Spataro N, Trujillo-Quintero JP, Manso C, et al. High performance of a dominant/X-linked gene panel in patients with neurodevelopmental disorders. Genes (Basel). 2023 Mar 13;14(3):708. doi: 10.3390/genes14030708.  
  12. Sheidley BR, Malinowski J, Bergner AL, et al. Genetic testing for the epilepsies: A systematic review. Epilepsia. 2022 Feb;63(2):375-387. doi: 10.1111/epi.17141.  
  13. Ní Ghrálaigh F, McCarthy E, Murphy DN, et al. Brief report: Evaluating the diagnostic yield of commercial gene panels in autism. J Autism Dev Disord. 2023 Jan;53(1):484-488. doi: 10.1007/s10803-021-05417-7. 
  14. Arteche-López A, Gómez Rodríguez MJ, Sánchez Calvin MT, et al. Towards a change in the diagnostic algorithm of autism spectrum disorders: Evidence supporting whole exome sequencing as a first-tier test. Genes. 2021(12):560. https://doi.org/10.3390/genes12040560.  
  15. 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.  
  16. 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.