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Whole Exome Sequencing


A comprehensive testing solution with enhanced gene coverage

whole exome sequencing

The whole exome sequencing (WES) test is designed to provide an enhanced coverage of the protein coding regions of the genes (exons), including the known disease-causing regions. We also include curated deep-intronic and promoter pathogenic variants in our test, which allows for a better understanding of the genetic basis of diseases.

We use advanced technology to provide exon-level copy number variant (CNV) calling and detect the CNVs, as well as the use of custom breakpoint capture baits to ensure the inclusion of additional common deletion events.

At Revvity Omics, we are committed to delivering high-quality and reliable results to our clients with unparalleled efficiency.

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Enhanced coverage of genes and clinically relevant regions

  • Greater than 97% of the Exome covered at >20x coverage.
  • Average read depth of 100x
  • Known disease associated genes and regions, non-coding clinical variants as well as other clinically relevant regions included.

Mini-genomes for select rare disorders

Full coverage of DMD and 40 additional genes associated with rare diseases.

Includes analysis of mitochondrial DNA

Sequence variants with ≥5% heteroplasmy related to the clinical presentation are reported.

Reliable detection of exon-level copy number events

Additional breakpoints included to enhance the detection of CNVs related to the patient’s phenotype.

Opt-in: secondary findings

  • ACMG recommended incidental findings: changes in a specific subset of highly penetrant and medically actionable genes*
  • Pharmacogenomic variants: changes in DNA that do not cause a disease but may be related to how certain medications are metabolized by the patient
  • Carrier status: changes in over 300 genes associated with autosomal recessive conditions that are not related to the clinical phenotype*
  • Diagnostic findings in all other disease-causing genes not related to the clinical phenotype: changes in other genes beyond the ACMG suggested list that are unrelated to the clinical indications at the time of testing*

*Only pathogenic and likely pathogenic variants are reported.

Testing options

Prenatal Analysis (4)
STAT Prenatal Whole Exome Sequencing, DUO
Test Code D1330E
Turn Around Time 7 - 10 days
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STAT Prenatal Whole Exome Sequencing, Proband ONLY
Test Code D1000E
Turn Around Time 7 - 10 days
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STAT Prenatal Whole Exome Sequencing, QUAD
Test Code D1340E
Turn Around Time 7 - 10 days
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STAT Prenatal Whole Exome Sequencing, TRIO
Test Code D1310E
Turn Around Time 7 - 10 days
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Standard Analysis (4)
Whole Exome Sequencing Proband Only
Test Code D1000
Turn Around Time 4 weeks
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Whole Exome Sequencing QUAD
Test Code D1340
Turn Around Time 4 - 6 weeks
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Whole Exome Sequencing TRIO
Test Code D1300
Turn Around Time 4 - 6 weeks
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Whole Exome Sequencing, DUO
Test Code D1330
Turn Around Time 4 - 6 weeks
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Family Member Testing (1)
Add Familial Report to Previous Whole Exome Sequencing TRIO Test
Test Code D0598
Turn Around Time 6 - 8 weeks
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Rapid Analysis (4)
Rapid Whole Exome Sequencing DUO
Test Code D1330F
Turn Around Time 12 - 14 days
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Rapid Whole Exome Sequencing Proband Only
Test Code D1010
Turn Around Time 12 - 14 days
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Rapid Whole Exome Sequencing QUAD
Test Code D1340F
Turn Around Time 12 - 14 days
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Rapid Whole Exome Sequencing TRIO
Test Code D1310
Turn Around Time 12 - 14 days
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Reanalysis and Interpretation of Data (5)
Analysis and Interpretation for Whole Exome Sequencing External Data
Test Code D0051
Turn Around Time 2 - 4 weeks
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Reanalysis and Interpretation of Previous RVTY Whole Exome DUO Sequencing Test
Test Code D0512
Turn Around Time 2 - 4 weeks
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Reanalysis and Interpretation of Previous RVTY Whole Exome Proband Sequencing Test
Test Code D0510
Turn Around Time 2 - 4 weeks
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Reanalysis and Interpretation of Previous RVTY Whole Exome QUAD Sequencing Test
Test Code D0514
Turn Around Time 2 - 4 weeks
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Reanalysis and Interpretation of Previous RVTY Whole Exome TRIO Sequencing Test
Test Code D0513
Turn Around Time 2 - 4 weeks
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How to order

Step 1

Test selection and place order

Step 2

Specimen collection

Step 3

Sample shipment
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How to order

1. Choose your test

Select the correct test for your patient and download and fill out the Clinical Genomics test requisition form.

  • Please make sure that all sections are completed, and that the patient has signed an informed consent form.
  • If a TRIO is ordered, please feel out the “Familial Information” section for tracking purposes.
2. Collect a sample

Obtain a sample for testing from the patient using one of the provided Revvity Omics test packs. If you do not have a kit available in your office, please contact us here and we can have one sent out to your office.

  • Ensure that all samples are labeled with the patient’s name and date of birth.
  • For Trio tests, parental and/or family member samples can be submitted separately from the patient/proband, if needed. Additional samples must be received by the laboratory within three weeks of the original patient/proband submission.
  • All parental/family member samples must be submitted with a fully completed requisition and informed consent form, complete with both physician and patient signatures.
3. Send a sample

Package the patient sample, informed consent form, and test requisition form back into the test kit, and utilize the included pre-paid shipping label to return the kit to Revvity Omics for processing.

  • As a patient’s clinical presentation is an essential part of fully interpreting genetic test results, we ask that you kindly include any applicable medical records or clinical notes with the sample at the time of test submission.
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    Whole exome sequencing FAQs
  • What is the exome?
  • What is whole exome sequencing?
  • When should whole exome sequencing be considered?
  • Who can order WES?
  • What are the prices of your WES testing options?
  • Does Revvity Omics accept insurance for WES?
  • What sample types do you accept?
  • What is your variant classification process?
  • Can a copy of the raw data be requested?
  • Will parents get a separate report when a TRIO test is ordered?

This testing service has not been cleared or approved by the U.S. Food and Drug Administration. Testing services may not be licensed in accordance with the laws in all countries. The availability of specific test offerings is dependent upon laboratory location. The content on this page is provided for informational purposes only, not as medical advice. It is not intended to substitute the consultation, diagnosis, and/or treatment provided by a qualified licensed physician or other medical professionals.