The power of exome and genome sequencing

When patients present with complex issues, a genetic diagnosis is likely, but a traditional genetic test may be too narrow to identify the cause. The genome is composed of 3 billion “letters”, or base pairs, of DNA. The exome is a portion of the genome that encodes for proteins, the molecular machines that allow cells to function. Changes in the genome and exome can cause many different diseases.
Exome and genome sequencing can find answers that more targeted genetic tests miss and are especially useful when the timing is critical and test results may direct or alter medical management.
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Line drawing of a DNA helix next to a genetic sequence of letters

Why it’s done

Some genetic disorders present with very specific symptoms, so tests that read the ‘letters’ of a single gene or a small panel of genes, may make sense. But for many other genetic diseases, patients can present with overlapping symptoms. Finding the correct diagnosis is not always straight-forward and may require multiple tests, costly evaluations, invasive procedures, and long hospital stays. Exome or whole genome sequencing may be the solution.


The GeneDx Difference

We designed our exome sequencing (ES/WES) and genome sequencing (GS/WGS) solutions with better outcomes in mind. ES and WGS test for many conditions simultaneously and often find answers that more traditional, targeted tests may miss.

Get the whole picture

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Generates an average savings of $3,547 when a genetic diagnosis is found[1] 

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Average savings of $6,838 when done at initial presentation vs. $4,140 savings if done at first genetics appointment[2]

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Prevents delays in diagnosis of around 4.8 years for rare diseases[3]

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The best answer for NICU/PICU patients, patients who are seeing multiple specialists with no clear diagnoses and/or rapidly deteriorating health

A history of expertise

Founded by NIH scientists in 2000, we have a proven track record of expertise in genetic testing. We have performed over a million genetic tests and worked tirelessly to achieve the following:

  • A curated database of disease-associated genomic variants
  • Proprietary bioinformatics and variant interpretation pipelines
  • Flexible test menu with rapid testing options

By providing accurate answers, we arm individuals, healthcare providers, and families with the tools they need to make better healthcare decisions.


  1. Monroe GR, Frederix GW, Savelberg SMC, et al. Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability. Genetics in Medicine: Official Journal of the American College of Medical Genetics. 2016;18(9):949-956. doi:10.1038/gim.2015.200
  2. Tan TY, Dillon OJ, Stark Z, et al. Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions. JAMA Pediatrics. 2017;171(9):855. doi:10.1001/jamapediatrics.2017.1755
  3. Engel PA, Bagal S, Broback M, Boice N. Physician and Patient Perceptions Regarding Physician Training in Rare Diseases: The Need for Stronger Educational Initiatives for Physicians. J Rare Disorders. 2013 1(2): 1-15.