Whole Exome Sequencing

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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 is our ability to offer such an excellent product to our clients at unmatched prices, all while delivering results faster than ever before!

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.

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.

TEST CODE
TEST NAME
NUMBER OF GENES
TURN AROUND TIME
D1000
Whole Exome Sequencing, Proband Only
WES
4 weeks
D1300
Whole Exome Sequencing, TRIO
WES
4 weeks
D1301
Whole Exome Sequencing, TRIO with Parental Reports
WES
4 weeks
TEST CODE
D1000
TEST NAME
Whole Exome Sequencing, Proband Only
NUMBER OF GENES
WES
TURN AROUND TIME
4 weeks
TEST CODE
D1300
TEST NAME
Whole Exome Sequencing, TRIO
NUMBER OF GENES
WES
TURN AROUND TIME
4 weeks
TEST CODE
D1301
TEST NAME
Whole Exome Sequencing, TRIO with Parental Reports
NUMBER OF GENES
WES
TURN AROUND TIME
4 weeks
STAT Whole Exome Sequencing Testing Options

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

TEST CODE
TEST NAME
NUMBER OF GENES
TURN AROUND TIME
D1010
STAT Whole Exome Sequencing, Proband Only
WES
7-10 days
D1310
STAT Whole Exome Sequencing, TRIO
WES
7-10 days
D1311
STAT Whole Exome Sequencing, TRIO with Parental Reports
WES
7-10 days
TEST CODE
D1010
TEST NAME
STAT Whole Exome Sequencing, Proband Only
NUMBER OF GENES
WES
TURN AROUND TIME
7-10 days
TEST CODE
D1310
TEST NAME
STAT Whole Exome Sequencing, TRIO
NUMBER OF GENES
WES
TURN AROUND TIME
7-10 days
TEST CODE
D1311
TEST NAME
STAT Whole Exome Sequencing, TRIO with Parental Reports
NUMBER OF GENES
WES
TURN AROUND TIME
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.

TEST CODE
TEST NAME
NUMBER OF GENES
TURN AROUND TIME
D1005
Whole Exome Sequencing, Proband ONLY - With StepOne® Biochemical Profile
WES
4 weeks
D1020
STAT Whole Exome Sequencing, Proband ONLY - With StepOne® Biochemical Profile
WES
7-10 days
D1305
Whole Exome Sequencing, TRIO - With StepOne® Biochemical Profile
WES
4 weeks
D1306
Whole Exome Sequencing, TRIO - With StepOne® Biochemical Profile with Parental Reports
WES
4 weeks
D1320
STAT Whole Exome Sequencing, TRIO - With StepOne® Biochemical Profile
WES
7-10 days
D1321
STAT Whole Exome Sequencing, TRIO - With StepOne® Biochemical Profile with Parental Reports
WES
7-10 days
TEST CODE
D1005
TEST NAME
Whole Exome Sequencing, Proband ONLY - With StepOne® Biochemical Profile
NUMBER OF GENES
WES
TURN AROUND TIME
4 weeks
TEST CODE
D1020
TEST NAME
STAT Whole Exome Sequencing, Proband ONLY - With StepOne® Biochemical Profile
NUMBER OF GENES
WES
TURN AROUND TIME
7-10 days
TEST CODE
D1305
TEST NAME
Whole Exome Sequencing, TRIO - With StepOne® Biochemical Profile
NUMBER OF GENES
WES
TURN AROUND TIME
4 weeks
TEST CODE
D1306
TEST NAME
Whole Exome Sequencing, TRIO - With StepOne® Biochemical Profile with Parental Reports
NUMBER OF GENES
WES
TURN AROUND TIME
4 weeks
TEST CODE
D1320
TEST NAME
STAT Whole Exome Sequencing, TRIO - With StepOne® Biochemical Profile
NUMBER OF GENES
WES
TURN AROUND TIME
7-10 days
TEST CODE
D1321
TEST NAME
STAT Whole Exome Sequencing, TRIO - With StepOne® Biochemical Profile with Parental Reports
NUMBER OF GENES
WES
TURN AROUND TIME
7-10 days
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.

TEST CODE
TEST NAME
NUMBER OF GENES
TURN AROUND TIME
D1000C
Whole Exome Sequencing, Proband ONLY, Plus CNGnome
WES
4 weeks
D1010C
STAT Whole Exome Sequencing, Proband ONLY, Plus CNGnome
WES
7-10 days
D1005C
Whole Exome Sequencing, Proband ONLY - With StepOne® Biochemical Profile, Plus CNGnome
WES
4 weeks
D1020C
STAT Whole Exome Sequencing, Proband ONLY - With StepOne® Biochemical Profile, Plus CNGnome
WES
7-10 days
D1300C
Whole Exome Sequencing, TRIO, Plus CNGnome
WES
4 weeks
D1310C
STAT Whole Exome Sequencing, TRIO, Plus CNGnome
WES
7-10 days
D1301C
Whole Exome Sequencing, TRIO with Parental Reports, Plus CNGnome
WES
4 weeks
D1311C
STAT Whole Exome Sequencing, TRIO with Parental Reports, Plus CNGnome
WES
7-10 days
D1305C
Whole Exome Sequencing, TRIO - With StepOne® Biochemical Profile, Plus CNGnome
WES
4 weeks
D1320C
STAT Whole Exome Sequencing, TRIO - With StepOne® Biochemical Profile, Plus CNGnome
WES
7-10 days
D1306C
Whole Exome Sequencing, TRIO - With StepOne® Biochemical Profile with Parental Reports, Plus CNGnome
WES
4 weeks
D1321C
STAT Whole Exome Sequencing, TRIO - With StepOne® Biochemical Profile with Parental Reports, Plus CNGnome
WES
7-10 days
TEST CODE
D1000C
TEST NAME
Whole Exome Sequencing, Proband ONLY, Plus CNGnome
NUMBER OF GENES
WES
TURN AROUND TIME
4 weeks
TEST CODE
D1010C
TEST NAME
STAT Whole Exome Sequencing, Proband ONLY, Plus CNGnome
NUMBER OF GENES
WES
TURN AROUND TIME
7-10 days
TEST CODE
D1005C
TEST NAME
Whole Exome Sequencing, Proband ONLY - With StepOne® Biochemical Profile, Plus CNGnome
NUMBER OF GENES
WES
TURN AROUND TIME
4 weeks
TEST CODE
D1020C
TEST NAME
STAT Whole Exome Sequencing, Proband ONLY - With StepOne® Biochemical Profile, Plus CNGnome
NUMBER OF GENES
WES
TURN AROUND TIME
7-10 days
TEST CODE
D1300C
TEST NAME
Whole Exome Sequencing, TRIO, Plus CNGnome
NUMBER OF GENES
WES
TURN AROUND TIME
4 weeks
TEST CODE
D1310C
TEST NAME
STAT Whole Exome Sequencing, TRIO, Plus CNGnome
NUMBER OF GENES
WES
TURN AROUND TIME
7-10 days
TEST CODE
D1301C
TEST NAME
Whole Exome Sequencing, TRIO with Parental Reports, Plus CNGnome
NUMBER OF GENES
WES
TURN AROUND TIME
4 weeks
TEST CODE
D1311C
TEST NAME
STAT Whole Exome Sequencing, TRIO with Parental Reports, Plus CNGnome
NUMBER OF GENES
WES
TURN AROUND TIME
7-10 days
TEST CODE
D1305C
TEST NAME
Whole Exome Sequencing, TRIO - With StepOne® Biochemical Profile, Plus CNGnome
NUMBER OF GENES
WES
TURN AROUND TIME
4 weeks
TEST CODE
D1320C
TEST NAME
STAT Whole Exome Sequencing, TRIO - With StepOne® Biochemical Profile, Plus CNGnome
NUMBER OF GENES
WES
TURN AROUND TIME
7-10 days
TEST CODE
D1306C
TEST NAME
Whole Exome Sequencing, TRIO - With StepOne® Biochemical Profile with Parental Reports, Plus CNGnome
NUMBER OF GENES
WES
TURN AROUND TIME
4 weeks
TEST CODE
D1321C
TEST NAME
STAT Whole Exome Sequencing, TRIO - With StepOne® Biochemical Profile with Parental Reports, Plus CNGnome
NUMBER OF GENES
WES
TURN AROUND TIME
7-10 days
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.

TEST CODE
TEST NAME
NUMBER OF GENES
TURN AROUND TIME
D1500
Whole Exome Sequencing, Proband ONLY - Data ONLY
WES
4 weeks
D1520
STAT Whole Exome Sequencing, Proband ONLY - Data ONLY
WES
7-10 days
D1510
Whole Exome Sequencing, TRIO - Data ONLY
WES
4 weeks
D1530
STAT Whole Exome Sequencing, TRIO - Data ONLY
WES
7-10 days
TEST CODE
D1500
TEST NAME
Whole Exome Sequencing, Proband ONLY - Data ONLY
NUMBER OF GENES
WES
TURN AROUND TIME
4 weeks
TEST CODE
D1520
TEST NAME
STAT Whole Exome Sequencing, Proband ONLY - Data ONLY
NUMBER OF GENES
WES
TURN AROUND TIME
7-10 days
TEST CODE
D1510
TEST NAME
Whole Exome Sequencing, TRIO - Data ONLY
NUMBER OF GENES
WES
TURN AROUND TIME
4 weeks
TEST CODE
D1530
TEST NAME
STAT Whole Exome Sequencing, TRIO - Data ONLY
NUMBER OF GENES
WES
TURN AROUND TIME
7-10 days
Other Testing Options

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

TEST CODE
TEST NAME
NUMBER OF GENES
TURN AROUND TIME
D0600
Single-site, known familial variant, testing
N/A
3 weeks
D0601
Single-site, known familial variant, testing - Data ONLY
N/A
3 weeks
D0500
Reanalysis and Interpretation for Internal Data
N/A
7-10 days
D0550
Reanalysis and Interpretation for External Data
N/A
2 weeks
TEST CODE
D0600
TEST NAME
Single-site, known familial variant, testing
NUMBER OF GENES
N/A
TURN AROUND TIME
3 weeks
TEST CODE
D0601
TEST NAME
Single-site, known familial variant, testing - Data ONLY
NUMBER OF GENES
N/A
TURN AROUND TIME
3 weeks
TEST CODE
D0500
TEST NAME
Reanalysis and Interpretation for Internal Data
NUMBER OF GENES
N/A
TURN AROUND TIME
7-10 days
TEST CODE
D0550
TEST NAME
Reanalysis and Interpretation for External Data
NUMBER OF GENES
N/A
TURN AROUND TIME
2 weeks

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 1-866-354-2910.

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.

Does PerkinElmer Genomics accept insurance for WES?

At this time, we do not accept commercial insurance for testing. Please contact us to learn more about our industry-leading institutional and patient-pay prices.

Additional Resources

How to Order

  1. Select the correct test for your patient, then download and fill out the Clinical Genomics test requisition form.
    • Please make sure that all sections are completed and that the patient has signed an informed consent form.
    • If a TRIO is ordered, please fill out the “Familial Information” section for tracking purposes.
  2. Obtain a sample for testing from the patient using one of the provided PerkinElmer Genomics test packs. If you do not have a kit available in your office, please contact us here, and we can have one sent out to your office.
    • Ensure that all samples are labeled with the patient name and date of birth.
    • For WES Trio tests, parental and/or family member samples can be submitted separately from the patient/proband, if needed. Additional samples must be received by the laboratory within three weeks of the original patient/proband submission.
      • All parental/family member samples must be submitted with a fully completed Family Member Requisition and Informed Consent form, complete with both physician and patient signatures.
  3. Package sample(s), informed consent form(s) and test requisition form(s) back into the test kit, and utilize the included pre-paid shipping label to return the kit to PerkinElmer Genomics for processing.
    • As a patient’s clinical presentation is an essential part of fully interpreting genetic test results, we ask that you kindly include any applicable medical records or clinical notes with the sample at the time of test submission.

Where are you located?