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 majority 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 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
- Detection of the majority of CNVs greater than or equal to 3 exons in size in clinically relevant genes that are related to the patient’s phenotype
- Although smaller CNV events may also be detected and reported, additional follow-up testing is recommended if a smaller CNV is suspected
Benefits of WES
Rapid Turn-Around-Times (TAT)
Average TAT of 4-6 weeks 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.
Enhanced variant analysis and interpretation efficiencies
PerkinElmer Genomics is the first global laboratory to fully integrate FDNA’s Next-Generation Phenotyping technologies into our variant analysis and interpretation workflows. Adding enriched phenotypic data and the power of artificial intelligence to our process allows us to achieve more efficient and accurate diagnoses.
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.