To ensure that a patient’s test is billed to their 2024 health benefits, testing must be started before the end of the year. For exome, genome, or Xpanded testing, if you do not expect parental samples to be received before the end of the year, please contact us at support@genedx.com to determine how to proceed.

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Find answers with exome

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:

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waits up to 5 years2

Uninformed test icon

undergoes 5 uninformative
medical tests3

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incurs $10,000 in healthcare
costs before reaching a diagnosis3

Exome sequencing

An earlier genetic diagnosis is proven to:4,5

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

Recommended as a first-line test

The 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

The 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 pediatric developmental disorders

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.

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

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

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

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

Diagnostic rate of exome sequencing vs. Multigene panels, Chromosomal microarray, and FMR1

This flyer can help you decide if exome sequencing is right for your patients right arrow

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: 5 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: 5 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 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 Oliver†

Oliver didn’t meet normal toddler milestones, including speaking and walking. He was identified to have autism spectrum disorder and expressive language delay.

See Oliver’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. 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. Genome Med. 2022 Feb 28;14(1):23. doi: 10.1186/s13073-022-01026-w.  3. Soden SE, Saunders CJ, Willig LK, et al. Sci Transl Med. 2014 Dec 3;6(265):265ra168. doi: 10.1126/scitranslmed.3010076.  4. Savatt JM, Myers SM. Front Pediatr. 2021 Feb 19;9:526779. doi: 10.3389/fped.2021.52679.  5. Malinowski, J., Miller, D.T., Demmer, L. et al. 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. 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. 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. 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. Epilepsia. 2021 Jan;62(1):143-151. doi: 10.1111/epi.16755.  10. Mellone S, Puricelli C, Vurchio D, et al. Front Genet. 2022 Aug 11;13:875182. doi: 10.3389/fgene.2022.875182.  11. Spataro N, Trujillo-Quintero JP, Manso C, et al. Genes (Basel). 2023 Mar 13;14(3):708. doi: 10.3390/genes14030708.  12. Sheidley BR, Malinowski J, Bergner AL, et al. Epilepsia. 2022 Feb;63(2):375-387. doi: 10.1111/epi.17141.  13. Ní Ghrálaigh F, McCarthy E, Murphy DN, et al. 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. Genes. 2021(12):560. https://doi.org/10.3390/genes12040560.  15. Manickam K, McClain MR, Demmer LA, et al. Genet Med. 2021;23(11):2029-2037. doi: 10.1038/s41436-021-01242.  16. Smith L, Malinowski J, Ceulemans S, et al. J Genet Couns. 2022 Oct 24. Doi.org/10.1002/jgc4.1646.