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 reliable detection of CNVs > 3 exons 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 our ability to offer such an excellent product to our clients at unmatched prices, all while delivering results faster than ever before!
PerkinElmer Genomics’ Whole Exome Sequencing comes with the following features:
- 98% of the Exome covered at > 20x coverage
- Average read depth of 100x
- Enhanced coverage of known disease genes and regions
- Exon-level deletion duplication coverage included on all tests
- Reliable detection of CNVs > 3 exons in size. Single exon CNVs can also be predicted, but follow-up confirmation is strongly recommended for any events reported less than 3 exons.
- Rapid Turn-Around-Times (TAT): Average TAT of 4 weeks or less for our standard WES offering. STAT testing is also available with a TAT of just 7-10 days.
- Unique and Flexible Test Menu: Choose the options that make sense for your patients, including the integration of biochemical results from PerkinElmer’s StepOne® comprehensive biochemical profile in WES results to aid in clinical correlation.
- 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.