Unlock Answers with Exome Sequencing

One test. A complete view. A brighter path forward.

Exome sequencing offers a higher likelihood of identifying a genetic diagnosis than traditional multigene panels or chromosomal microarray testing.

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70% of genetic conditions appear in childhood. Still, many families face a long and costly road to answers:
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An average diagnostic delay of up to 5 years
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At least 5 inconclusive medical tests
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Around $10,000 in healthcare expenses before finding a cause

Every day without a genetic diagnosis is a missed opportunity

An earlier genetic diagnosis is proven to:

Improve and personalize medical care
Enable quicker, more effective treatment decisions
Decrease unnecessary procedures
Connect families to helpful resources and support
Genetic Testing

Exome Sequencing: A Recommended First Step

The American College of Medical Genetics and Genomics (ACMG) recommends exome or genome sequencing as a first-line test for individuals with developmental delays, intellectual disability, or congenital anomalies.
The National Society of Genetic Counselors, with endorsement from the American Epilepsy Society, advises exome or genome sequencing for all individuals with unexplained epilepsy.

Why Exome Testing Outperforms Other Approaches

Choosing exome sequencing can speed up diagnosis, optimize care strategies, and lower overall costs.

Twice the diagnostic yield compared to chromosomal microarray.
23% of exome-positive patients would have remained undiagnosed with a multigene panel alone.

Exome Sequencing Test Options

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eXome®

Covers approximately 20,000 protein-coding genes to detect mutations linked to a patient's condition. Available in proband, duo, or trio formats.
Turnaround: 5 weeks*

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eXome® Plus

Combines exome analysis with mitochondrial genome sequencing—ideal for suspected mitochondrial disorders. Reports provided separately for each assay. Available in proband, duo, or trio formats.
Turnaround: 5 weeks*

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eXomeXpress®

A rapid version of the eXome® test designed for critically or acutely ill patients requiring urgent answers. Available in proband, duo, or trio formats.
Provisional results in 7 days, full report in 2 weeks*

Additional Questions?

Please reach out to our team with any other inquiries at support@presciencedx.com, or +1 (773) 754-8203, we're available any time.

Ready to Get Started?

Contact us today to learn more about our genomic testing solutions and how we can help your patients.

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