End the diagnostic odyssey with exome

For a child with epilepsy, every day without a genetic diagnosis is a missed opportunity.

For children with rare conditions, 23% of patients diagnosed with whole exome sequencing (WES) would not have received a diagnosis with a panel.1

Uncovering an individual’s genetic etiology with comprehensive genetic testing, such as whole exome sequencing (WES) or whole genome sequencing (WGS), offers a more complete understanding of patient health. A genetic diagnosis can provide patients and families greater access to resources and more effective treatment options.

Patients with a genetic diagnosis can experience up to 90% seizure reduction in some cases.2

 

On average, a child with neurodevelopmental disorders waits over 6 years, accrues over $10,000 in additional health costs, and undergoes more than 5 uninformative tests on their path to a genetic diagnosis.3

For clinicians: A genetic diagnosis helps providers tailor treatments and identify, treat and/or prevent co-occurring medical conditions for children with epilepsy. This can include avoiding, stopping, or initiating specific medication or diet recommendations.2

For families: Patients and families can access prognostic information, evaluate potential recurrence risks, discover resources and communities, and explore clinical trial eligibility for their children with a specific genetic diagnosis.2,4

Narrow testing can miss critical patient information.

The National Society of Genetic Counselors (NSGC) and the American Epilepsy Society (AES) now recognize exome as the best genetic test for unexplained epilepsy.4

Choosing exome testing first over chromosomal microarray or panels can provide important advantages.

  • Nearly 50% of unexplained epilepsy cases likely have a genetic cause2
  • Exome (and genome) tests report 30% fewer inconclusive results and a higher diagnostic yield compared to multi-gene panel tests5
  • Up to 80% of cases have implications for treatment and management 2

XomeDx – The GeneDx Exome Test

Phenotype-driven evaluation of ~20,000 genes, enabling a greater chance of diagnosis and fewer uncertain results than other test options. Captures information about both sequence and copy number variants (CNVs).

 

Choose exome first for your patients with unexplained epilepsy.

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Sponsored testing - the true cost of free testing

Targeted testing misses critical information. Exome finds the answers that panel tests miss.

With 30% fewer uncertain results and higher diagnostic yields, exome testing uncovers the answers hiding behind negative panel results.5

 

GeneDx trio exome testing offers ~3x the diagnostic yield compared to focused gene panels.5

 

Sponsored testing programs contribute to delayed diagnoses with narrow panels that exclude the genetic analyses needed to deliver answers to patients, their families, and their providers. With higher clinical utility, expert endorsements from AES and NSGC, and rapidly increasing accessibility, exome provides definitive answers to end the diagnostic odyssey.

GeneDx accepts all commercial insurance, Medicaid, and Medicare

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Over 70% of commercial health plans cover exome sequencing for children with neurodevelopmental disorders that meet clinical criteria.6
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For many patients, insurance may provide better coverage for exome than multi-gene panels.6

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

Our billing experts work with families to access testing so patients can get the care they need. We offer flexible payment plans and offer a Financial Assistance Program for eligible patients.

With comprehensive care from start to finish, we offer more than just a test result.

Our dedicated team of genetic counselors provides peer-to-peer support as well as pre- and post-test counseling to your patients at no extra charge. Our interpretation services focus on providing clinically actionable results, so you can quickly apply findings to your patients’ care plans.

Your patients are looking for answers. Find them with GeneDx.

Sources:

  1. 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.
  2. 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. Epub 2021 Dec 10.
  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. 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. 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.
  6. 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.
  7. Internal data.