New! GeneDx now accepts cheek swab (buccal) sample collection for all patients receiving genome sequencing. Learn more.

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Find answers with genome sequencing

The most comprehensive genomic insights, in one test

Genome sequencing analyzes the entirety of an individual’s DNA, which is known as the genome, including the protein-coding and non-coding regions across ~20,000 genes. This comprehensive view can enable the greatest chance of uncovering a genetic diagnosis.

To learn more about which plans cover outpatient genome testing, please visit our genome outpatient coverage page.

1 in 4 infants in the intensive care unit likely have a genetic disorder 1

Infants with genetic disorders often experience a higher risk of mortality, increased resource utilization, and prolonged hospital stays.2,3 For critically ill infants, rapid genome sequencing can enable an early and precise diagnosis, transforming patient care and improving outcomes.

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Genome is recommended as a first-line test

  • The National Society of Genetic Counselors (NSGC) recommends genome or exome as a first-line test for all individuals with unexplained epilepsy and this guideline is endorsed by the American Epilepsy Society (AES).4
  • The American College of Medical Genetics and Genomics (ACMG) recommends genome or exome as a first-line test for developmental delay, intellectual disability, and congenital anomalies.5
  • The International Precision Child Health Partnership (IPCHiP) recommends genome or exome as a first-line test for NICU patients with explained hypotonia.6

Genome sequencing test options

GenomeSeqDx, the GeneDx genome test, sequences an individual’s nuclear genome, assessing both the protein-coding and non-coding regions. Additionally, this test includes mitochondrial genome sequencing and deletion analysis, as well as testing for congenital myotonic dystrophy (DMPK) and fragile X syndrome (FMR1) due to repeat expansions. Select from trio, duo, or proband test options.
Turnaround time*: 4 weeks.

GenomeXpress®, includes all the benefits of GenomeSeqDx, but with a rapid turnaround time. This test is ideal for acutely and critically ill patients who need answers fast. Select from trio, duo, or proband test options.
Turnaround time*: Provisional results within 5-7 days, and written report within 14 days. Mitochondrial genome test written report within 3-4 weeks.

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Meet Luca†

Luca was experiencing respiratory distress and hypoglycemia at birth. He was immediately transferred to the NICU for monitoring and ongoing care. His outcome would have been vastly different without early rapid genome sequencing.

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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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*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.
GeneDx offers a one-time reanalysis with our genome sequencing, included at no additional charge. We generally recommend ordering reanalysis when new clinical indications develop or at least 18-24 months after the return of the original results.

†Fictionalized case studies for illustrative purposes only.

Sources

  1. Kingsmore SF, Cakici JA, Clark MM, et al. Am J Hum Genet. 2019 Oct 3;105(4):719-733. doi:10.1016/j.ajhg.2019.08.009.
  2. Farnaes L, Hildreth A, Sweeney NM, et al. NPJ Genom Med. 2018 Apr 4;3:10. doi: 10.1038/s41525-018-0049-4.
  3. NICUSeq Study Group et al. JAMA Pediatr. 2021;175(12):1218-1226. doi:10.1001/jamapediatrics.2021.3496.
  4. Smith L, Malinowski J, Ceulemans S, et al. J Genet Couns. 2022 Oct 24; 32:266–280. Doi.org/10.1002/jgc4.1646.
  5. Manickam K, McClain MR, Demmer LA, et al. Genet Med. 2021;23(11):2029-2037. doi: 10.1038/s41436-021-01242.
  6. Morton SU, Christodoulou J, Costain G, et al. JAMA Neurol. 2022 Apr 1;79(4):405-412. doi:10.1001/jamaneurol.2022.0067.