Whole Exome Sequencing
A comprehensive testing solution with enhanced gene coverage
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.
Resources
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)
Standard Analysis
(4)
Family Member Testing
(1)
Rapid Analysis
(4)
Reanalysis and Interpretation of Data
(6)
How to Order
Step 1
Test selection and place order
Step 2
Specimen collection
Step 3
Sample shipment
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.
- What is the exome?
The exome is the part of our DNA that contains protein-coding genes, and accounts for approximately 1-2% of our total amount of DNA (genome).
- What is whole exome sequencing?
Whole exome sequencing is a genetic test that analyzes all of the genes (~22,000) that make up an individual’s exome.
- When should whole exome sequencing be considered?
Whole Exome Sequencing could be used in a variety of situations, including:
- The patient has a genetically heterogeneous disease meaning that the disease could be caused by a large number of different genes.
- The patient has a condition suggestive of a genetic disorder, but there is a long differential diagnosis list.
- The patient has an unclear or atypical presentation of a genetic disorder.
- The patient previously had genetic testing that did not yield a diagnosis and/or other available genetic testing options have been exhausted.
- Who can order WES?
Whole genome sequencing must be ordered by a qualified healthcare provider.
- What are the prices of your WES testing options?
For pricing, please email Revvity Omics at genomics@revvity.com or call us at
1-866-354-2910. - Does Revvity Omics accept insurance for WES?
Revvity Omics does not accept insurance for its WES testing options. For more information about our current billing policies please reach out to our representatives.
- What sample types do you accept?
Revvity Omics accepts multiple sample types including Saliva Swabs, Dried Blood Spots, Whole Blood, and Genomic DNA. Please note that DBS are required to perform the StepOne® Biochemical Profile.
- What is your variant classification process?
Revvity Omics follows the published ACMG guidelines when classifying identified variants.
- Can a copy of the raw data be requested?
Yes, a copy of the raw sequencing data can be requested. Individual data will be released on a secure hard drive for a fee. Requests can be submitted by utilizing our Data Release Form.
- Will parents get a separate report when a TRIO test is ordered?
Separate parental reports are not included for all TRIO samples. Separate parental reports are an “additional testing option” and must be selected separately on the test requisition form for an additional charge. If selected, each parent must also “Opt In” on the Informed Consent form to which findings they would like to receive in their report.
Please note that separate test requisition forms must be submitted for each parent for separate reports.
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.