Whole Genome Sequencing

Is it time to move beyond the exome?

Studies have suggested that up to 15% of disease-causing variants may be found in the non-coding regions of the genome, which are not covered by exome sequencing tests. The PCR-free sequencing methods used in Whole Genome Sequencing (WGS) provide for more uniform coverage across both coding and non-coding regions of DNA. The more uniform coverage offered through WGS can in fact provide better coverage of some regions of the exome than traditional exome sequencing, increasing the possibility of finding a disease causing mutation.

Testing Options

Standard Whole Genome 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 Genome Sequencing tests as STAT options with a TAT of 10-12 days.

Whole Genome Sequencing Combined with Biochemical Testing Options

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

Data ONLY Whole Genome Sequencing Testing Options

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

Other Testing Options

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

Why PerkinElmer Genomics

PerkinElmer Genomics is one of the first laboratories to offer Whole Genome Sequencing on a clinical basis in effort to maximize clinical diagnostic yield for our clients and patients. Combining superior coverage of the exome (over 98% covered > 20x) with a six week turn-around time, our whole genome sequencing test is designed to maintain the same quality and TAT that clients deserve from an exome sequencing test, while  providing access to additional valuable information throughout the genome.

  • Mean coverage of 30x throughout the entire Genome
  • >98% of the exome is covered at >20x
  • Complete coverage of over 5,300 disease-associated genes
  • Exon-level deletion duplication coverage included throughout the genome
    • Reliable detection of copy number variants (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: Genome TATs that beat most competitors Exome TATs: Average TAT of 6 weeks or less for our standard WGS offering. STAT testing is also available with a TAT of just 12-14 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 WGS 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 Genomics’ 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 WGS. In addition to WGS prices that approach or beat the cost of most Whole Exome Sequencing (WES) tests in the market, we also offer an interest-free payment option to patients choosing the self-pay option.

FAQs

What is the genome?

The genome comprises all of a person’s the DNA. The exome, the protein-coding portion of the genome, only accounts for about 1-2% of the genome.

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 Whole Genome Sequencing?

Whole Genome Sequencing is a genetic test that analyzes all of the DNA in a person’s Genome.

When should whole genome sequencing be considered?

Whole Genome 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, including exome sequencing.
What is the diagnostic yield of WGS?

The literature and research defining the full diagnostic yield of Whole Genome Sequencing is still evolving. However, given that it is estimated that approximately 15% of disease-causing mutations are found in non-coding regions, the yield is expected to be significantly larger than standard Whole Exome Sequencing.

Who can order WGS?

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

How long does it take to receive a WGS Report?

PerkinElmer Genomics’ standard WGS testing options have an average turn-around-time of 6 weeks. STAT testing options are also available to accelerate the delivery of results to patient, and have an average TAT of 10-12 days.

What are the prices of your WGS 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.

Resources

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