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.

Popular WES Tests

WES – Proband Only
WES – TRIO
STAT WES – Proband Only
STAT WES – TRIO

Test Resources

Sample Report
Test Requisition Form
TRIO Family Member Form

WGS Test Options

Test Code Test Name Turn Around Time
D1000 Whole Exome Sequencing Proband Only 4-6 weeks Learn More
D1000C Whole Exome Sequencing Proband Only, plus CNGnome® Test 4-6 weeks Learn More
D1005 Whole Exome Sequencing Proband Only, plus StepOne® Biochemical Profile

2 Genes

4-6 weeks Learn More
D1005C Whole Exome Sequencing Proband Only, plus StepOne® Biochemical Profile and CNGnome® Test 4-6 weeks Learn More
Test Code Test Name Turn Around Time
D1300 Whole Exome Sequencing TRIO 4-6 weeks Learn More
D1300C Whole Exome Sequencing TRIO, plus CNGnome ® Test 4-6 weeks Learn More
D1301 Whole Exome Sequencing TRIO with Parental Reports 4-6 weeks Learn More
D1301C Whole Exome Sequencing TRIO with Parental Reports, plus CNGnome® Test 4-6 weeks Learn More
D1305 Whole Exome Sequencing TRIO, plus StepOne® Biochemical Profile 4-6 weeks Learn More
D1305C Whole Exome Sequencing TRIO, plus StepOne® Biochemical Profile and CNGnome® Test 4 weeks Learn More
D1306 Whole Exome Sequencing TRIO with Parental Reports, plus StepOne® Biochemical Profile 4-6 weeks Learn More
D1306C Whole Exome Sequencing TRIO with Parental Reports, plus StepOne® Biochemical Profile and CNGnome® Test 4-6 weeks Learn More
Test Code Test Name Turn Around Time
D1010 STAT Whole Exome Sequencing Proband Only 7 -10 days Learn More
D1010C STAT Whole Exome Sequencing Proband Only, plus CNGnome® Test 7 -10 days Learn More
D1020 STAT Whole Exome Sequencing Proband Only, plus StepOne® Biochemical Profile 7 -10 days Learn More
D1020C STAT Whole Exome Sequencing Proband Only, plus StepOne® Biochemical Profile and CNGnome® Test 7 -10 days Learn More
Test Code Test Name Turn Around Time
D1310 STAT Whole Exome Sequencing TRIO 7 -10 days Learn More
D1311 STAT Whole Exome Sequencing TRIO with Parental Reports 7 -10 days Learn More
D1311C STAT Whole Exome Sequencing TRIO with Parental Reports, plus CNGnome® Test 7 -10 days Learn More
D1320 STAT Whole Exome Sequencing TRIO, plus StepOne® Biochemical Profile 7 -10 days Learn More
D1321 STAT Whole Exome Sequencing TRIO with Parental Reports, plus StepOne® Biochemical Profile 7 -10 days Learn More
D1321C STAT Whole Exome Sequencing TRIO with Parental Reports, plus StepOne® Biochemical Profile and CNGnome® Test 7 -10 days Learn More
Test Code Test Name Turn Around Time
D1999 Whole Exome Sequencing Family Member 4-6 weeks Learn More
D1600 Whole Exome Sequencing Additional Family Member (Add-On) 4-6 weeks Learn More
Test Code Test Name Turn Around Time
D0501 Reanalysis and Interpretation for Whole Exome Sequencing (Internal Data) 2-4 weeks Learn More
D0551 Reanalysis and Interpretation for Whole Exome Sequencing (External Data) 2-4 weeks Learn More
Test Code Test Name Turn Around Time
D9999 Reflex to Whole Exome Sequencing (from Panel Test) 3-5 weeks Learn More

How to Order

1. Choose Your Test

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2. Collect Sample

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3. Send Sample

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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.

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 information about our current billing policies please click here.

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.

Contact PerkinElmer Genomics for more information

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