About Whole Exome Sequencing
PerkinElmer Genomics is proud to offer one of the most comprehensive Whole Exome Sequencing (WES) tests on the market through enhanced coverage of known disease causing genes and the inclusion of curated deep-intronic and promoter pathogenic variants. Additionally, all of our exome sequencing tests include exon-level copy number variant (CNV) calling with detection of the CNVs as well as the use of custom breakpoint capture baits to ensure inclusion of additional common deletion events.
Although our test is one of the most comprehensive on the market, what we are truly proud of is our ability to offer such an excellent product to our clients at unmatched prices, all while delivering results faster than ever before!
Features of WES
Greater than 97% of the Exome covered at >20x coverage
Average read depth of 100x
Enhanced coverage of known disease genes and regions
Includes analysis of mitochondrial DNA
Exon-level deletion duplication coverage included on all tests
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- Detection of the majority of CNVs in clinically relevant genes that are related to the patient’s phenotype
- Additional follow-up testing is recommended if a smaller CNV is suspected
Benefits of WES
Rapid Turn-Around-Times (TAT)
Average TAT of 4 weeks for our standard WES offering. Rapid testing is also available with a TAT of just 12-14 days.
Multiple Sample Types
Acceptance of multiple sample types including Saliva Swabs, Dried Blood Spots, Whole Blood, and Genomic DNA.
Increased Accessibility to Testing
PerkinElmer’s position as an industry leader in Next-Generation Sequencing (NGS) testing solutions allow us to introduce unmatched automation and efficiencies in our clinical laboratory, and we are happy to pass on those cost savings to our patients in the form of industry-leading pricing for Whole Exome Sequencing. In addition to WES prices that approach or beat the cost of most panel tests in the market, we also offer an interest-free payment option to patients choosing the self-pay option.
WGS Test Options
| Test Code | Test Name | Turn Around Time | |
| D1000 | Whole Exome Sequencing Proband Only | 4 weeks |  Order Test |
| Test Code | Test Name | Turn Around Time | |
| D1300 | Whole Exome Sequencing TRIO | 4-6 weeks | Order Test |
| D1301 | Whole Exome Sequencing TRIO with Parental Reports | 4-6 weeks | Order Test |
| Test Code | Test Name | Turn Around Time | |
| D1010 | Rapid Whole Exome Sequencing Proband Only | 12-14 days | Order Test |
| Test Code | Test Name | Turn Around Time | |
| D1310 | Rapid Whole Exome Sequencing TRIO | 12-14 days | Order Test |
| D1311 | Rapid Whole Exome Sequencing TRIO with Parental Reports | 12-14 days | Order Test |
| Test Code | Test Name | Turn Around Time | |
| D9999 | Reflex to Whole Exome Sequencing (from Panel Test) | 3-5 weeks | Order Test |
Whole Exome Sequencing FAQs
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).
Whole Exome Sequencing is a genetic test that analyzes all of the genes (~22,000) that make up an individual’s exome.
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
For pricing, please email PerkinElmer Genomics or call us at 1-866-354-2910.
Whole exome sequencing must be ordered by a qualified healthcare provider.
PerkinElmer Genomics’ standard WES testing options have an average turn-around-time of 4-6 weeks. STAT testing options are also available to accelerate the delivery of results to patient, and have an average TAT of 7-10 days.
PerkinElmer Genomics follows the published ACMG guidelines when classifying identified variants.
All reported sequencing variants are confirmed using an orthogonal method.
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.
Yes, a copy of the raw sequencing data can be requested. Individual data will be released on a secure hard drive for a small fee of $150. Requests can be submitted by utilizing our Data Release Form.