• Features

  • Benefits

Nearly Whole Exome Sequencing

PerkinElmer Genomics is proud to offering one of the almost 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 re-create number variant (CNV) calling with detection of the majority CNVs> 3 exons equally well as the employ of custom breakpoint capture baits to ensure inclusion of additional common deletion events.

Although our test is 1 of the most comprehensive on the market, what we are truly proud of is our ability to offering such an excellent product to our clients at unmatched prices, all while delivering results faster than ever earlier!

  • Features

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 assay of mitochondrial Dna

Exon-level deletion duplication coverage included on all tests

    • Detection of the bulk of CNVs greater than or equal to 3 exons in size in clinically relevant genes that are related to the patient'due south phenotype
    • Although smaller CNV events may likewise exist detected and reported, additional follow-up testing is recommended if a smaller CNV is suspected

  • Benefits

Benefits of WES

Rapid Turn-Around-Times (TAT)
Average TAT of4-6 weeks for our standard WES offering. STAT testing is too bachelor with a TAT of just7-10 days.

Unique and Flexible Test Bill of fare
 Choose the options that make sense for your patients, including the integration of biochemical results from PerkinElmer'south StepOne® comprehensive biochemical contour in WES results to aid in clinical correlation.

Enhanced variant analysis and estimation efficiencies
 PerkinElmer Genomics is the outset global laboratory to fully integrate FDNA's Next-Generation Phenotyping technologies into our variant assay and interpretation workflows. Calculation enriched phenotypic data and the power of artificial intelligence to our process allows us to accomplish more than efficient and accurate diagnoses.

Multiple Sample Types
 Acceptance of multiple sample types including Saliva Swabs, Stale Blood Spots, Whole Blood, and Genomic Dna.

Increased Accessibility to Testing
 PerkinElmer'due south position every bit an industry leader in Side by side-Generation Sequencing (NGS) testing solutions permit us to introduce unmatched automation and efficiencies in our clinical laboratory, and nosotros are happy to pass on those cost savings to our patients in the course of industry-leading pricing for Whole Exome Sequencing. In addition to WES prices that arroyo or beat out the cost of virtually panel tests in the market, we also offer an interest-free payment selection to patients choosing the self-pay option.

Popular WES Tests

Test Resources

WGS Test Options

Whole Exome Sequencing FAQs

The exome is the part of our Dna that contains protein-coding genes, and accounts for approximately ane-2% of our total amount of DNA (genome).

Whole Exome Sequencing is a genetic test that analyzes all of the genes (~22,000) that brand up an private'south exome.

Whole Exome Sequencing could be used in a diverseness of situations, including:

  • The patient has a genetically heterogeneous disease meaning that the illness could exist 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 wearied
PerkinElmer Genomics 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.
PerkinElmer Genomics does accept commercial insurance for standard WGS testing options (D1000 and D1300). For more than information about our current billing policies delight clickhere.

Whole exome sequencing must exist 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 likewise available to accelerate the commitment 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 "boosted testing choice" 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.

Aye, a copy of the raw sequencing information 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 ourData Release Form.

Contact PerkinElmer Genomics for more information