Whole Genome Sequencing
Moving beyond the exome
At Revvity Omics, we are proud to be among the first laboratories providing whole genome sequencing as a clinical service to benefit our clients and patients. Our whole genome sequencing test offers top-quality standards and quick turnaround times. It outperforms exome sequencing tests in terms of both service and data comprehensiveness, covering over 99% of the exome. Our test provides industry leading results while maintaining a competitive turnaround time.
Ultrarapid whole genome sequencing
Our comprehensive Ultrarapid Whole Genome Sequencing (urWGS) offers a range of features, including mitochondrial genome sequencing, biochemical testing, cCMV analysis, CNV detection, and more. With a turnaround time of 5-8 days and flexible sample types, our service is a convenient and efficient option for your needs.
Resources
Enhanced coverage of the genome
The Whole Genome sequencing assay is a PCR-free method with a mean coverage of ≥30x throughout the entire genome, including complete coverage of over 99% of the exome, which includes more than 5,400 disease-associated genes.
Reliable detection of gene and chromosomal level copy number events
Reliably detects intragenic deletions and duplications in clinically relevant genes that are related to phenotype, as well as large scale CNV events, such as microdeletions and other gene- and chromosomal-level events.
Includes analysis of mitochondrial DNA
Sequence variants with ≥5% heteroplasmy related to the clinical presentation are reported.
Short Tandem Repeat (STR) analysis
Short Tandem Repeat (STR) analysis of more than 30 genes, including genes associated with intellectual disability and movement disorders are included in this assay.
If allele expansion cannot be reliably ruled out, further confirmatory diagnostic testing is recommended to provide a definitive diagnosis.
Copy number characterization for Spinal Muscular Atrophy
SMN1 copy number characterization for Spinal Muscular Atrophy (SMA) is included.
Optional enhancements of ultrarapid WGS
- StepOne® Plus Comprehensive Biochemical Profile, a newborn screening test that detects more than 70 disorders in newborns, including congenital cytomegalovirus (cCMV).
- Includes metagenomics analysis on a research basis.
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)
Reanalysis and Interpretation of Data
(7)
Ultrarapid Analysis
(4)
How to order
Step 1
Test selection and place order
Step 2
Specimen collection and shipment
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 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 whole genome sequencing?
Whole genome sequencing is a genetic test that analyzes all of the DNA in a person’s genome.
- How does whole genome sequencing compare versus whole exome sequencing?
Studies have suggested that up to 15% of disease-causing variants may be found in the non-coding regions of the genome, which are not covered by exome sequencing tests. The PCR-free sequencing methods used in Whole Genome Sequencing (WGS) provide for more uniform coverage across both coding and non-coding regions of DNA. The more uniform coverage offered through WGS, provides better coverage of some regions of the exome than traditional exome sequencing, increasing the possibility of finding a disease-causing gene change.
- What is the diagnostic yield of WGS?
The literature and research defining the full diagnostic yield of Whole Genome Sequencing is still evolving. However, given that it is estimated that approximately 15% of disease-causing mutations are found in non-coding regions, the yield is expected to be significantly larger than standard Whole Exome Sequencing.
- When should whole genome sequencing be considered?
Whole Genome 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, including exome sequencing.
- Who can order WGS?
Whole genome sequencing must be ordered by a qualified healthcare provider.
- What are the prices of your WGS 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 WGS?
Revvity Omics does not accept insurance for its WGS 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.