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 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!

Testing Options

Standard Whole Exome Sequencing Testing Options

Choose from standard Proband Only and Trio testing options. Parents also have the option of receiving full result reports, if desired.

STAT Whole Exome Sequencing Testing Options

All of our Whole Exome Sequencing tests as STAT options with a TAT of 7-10 days.

Whole Exome Sequencing Combined with Biochemical Testing Options

This unique testing option allows providers to combine whole exome sequencing with our StepOne® comprehensive biochemical profile to aid clinical correlation.

Whole Exome Sequencing Combined with the CNGnome™ test

This testing option combines whole exome sequencing with CNGnome™ test to provide more comprehensive coverage and detection of clinically relevant variants.

Data ONLY Whole Exome Sequencing Testing Options

Data generation (only) is also available for those physicians and institutions that prefer to do their own exome analysis and report writing.

Other Testing Options

Supplemental testing options available to complement our full Whole Exome Sequencing test offerings.

Why PerkinElmer Genomics

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 gene 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.

Benefits

  • 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.

FAQs

What is the exome?

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).

What is exome sequencing?

Whole Exome Sequencing is a genetic test that analyzes all of the genes (~22,000) that make up an individual’s exome.

When should whole exome sequencing be considered?

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.
What is the diagnostic yield of whole exome sequencing?

Reported diagnostic rates range from 20-40% among commercial and academic laboratories, with higher rates being associated with TRIO analysis. Diagnostic rates can vary depending on the indication for testing as well as how patients are ascertained for testing.

Who can order whole exome sequencing?

Whole exome sequencing must be ordered by a qualified healthcare provider.

How long does it take to receive a whole exome sequencing Report?

PerkinElmer Genomics’ standard WES testing options have an average turn-around-time of 4 weeks. STAT testing options are also available to accelerate the delivery of results to patient, and have an average TAT of 7-10 days.

What are the prices of your whole exome sequencing testing options?

For pricing, please email PerkinElmer Genomics or call us at 1800-419-1400.

What sample types do you accept?

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.

Do you confirm all of your findings?

All reported variants are confirmed using an orthogonal method.

What is your variant classification process?

PerkinElmer Genomics 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 small fee of $150. 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. If selected, each parent must also “Opt In” to which findings they would like to receive in their report.

Additional Resources

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