Find Answers with Exome Sequencing

One test. Deeper insights. Brighter futures.

Exome sequencing offers a higher chance of identifying a genetic diagnosis compared to multigene panels or chromosomal microarray bringing clarity when it matters most.

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70%

Why Early Diagnosis Matters

70% of of genetic disorders begin in childhood.

Yet for many families, the path to a diagnosis is long and costly.

  • Up to 5 years for answers
  • Undergo 5 or more inconclusive tests
  • Spend over $10,000 on healthcare before getting a diagnosis

The Cost of Waiting

Every Day Without a Genetic Diagnosis Is a Missed Opportunity An earlier diagnosis can do more than provide answers—it can transform care. It helps to:

  • Change medical management with greater precision
  • Enable timely and targeted treatment options
  • Reduce unnecessary medical interventions
  • Connect families with vital resources and support

Recommended as a First-Line Test

Leading medical organizations now recognize the power of exome and genome sequencing in early diagnosis.

The American College of Medical Genetics and Genomics (ACMG) recommends exome or genome sequencing as a first-tier test for individuals with developmental delay, intellectual disability, and congenital anomalies.

The National Society of Genetic Counselors (NSGC) recommends exome or genome sequencing for all individuals with unexplained epilepsy—a guideline endorsed by the American Epilepsy Society.

Exome Finds Answers Other Tests Can Miss

Exome sequencing increases the likelihood of a diagnosis—saving time, guiding treatment, and lowering long-term costs.

2x

higher diagnostic rate than chromosomal microarray

23%

23% of patients diagnosed through exome would have been missed by a standard genetic panel

Diagnostic rate of exome sequencing vs other technologies

Developmental Delay
Intellectual Disability
Epilepsy
Autsim Spectrum
Disorder
Exome Sequencing
36% 6
24% 12
16% 6
Multigene Panels
20-30% 8-11
19% 12
3-10% 13
Chromosomal Microarray
15-20% 4
9% 12
3% 14
FMR1
0.45% 4
N/A
1%14

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Exome Sequencing Testing Options

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eXome®

Analyzes the protein-coding regions of ~20,000 genes to detect genetic changes that may explain a patient’s symptoms. Ideal for a broad range of conditions. Available as trio, duo, or proband. Turnaround time: 5 weeks*

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eXome® Plus

Our rapid exome solution for acutely or critically ill patients who need urgent answers. Available as trio, duo, or proband.Turnaround time:Provisional results in 7 days Full written report in 2 weeks*

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eXomeXpress®

A rapid version of our standard exome test for critically ill patients who need answers fast.
Provisional results in 7 days, full report in 2 weeks*