About WGS

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.

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 (complete coverage of >99% of the exome) with an average 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.

Features of WGS

Mean coverage of 40x throughout the entire Genome

Complete coverage of >99% of the exome, including over 5,400 disease-associated genes

Reliable detection of intragenic deletions and duplications (≥ 3 exons) in clinically relevant genes that are related to phenotype, as well as large scale CNV events, such as microdeletions and other gene- and chromosomal-level events

    • While smaller intragenic CNVs (1-2 exons) may be detected and reported, follow-up testing is recommended if a deletion of smaller than 3 exons is suspected

Includes analysis of mitochondrial DNA

Short Tandem Repeat (STR) screening of more than 35 genes, including genes associated with intellectual disability and movement disorders.

    • If allele expansion cannot be reliably ruled out, further confirmatory diagnostic testing is recommended to provide a definitive diagnosis

SMN1 and SMN2 copy number characterization for Spinal Muscular Atrophy (SMA)

Benefits of WGS

Rapid Turn-Around-Times
Genome TATs that beat most competitors Exome TATs: Average TAT of 6-8 weeks for our standard WGS offering. STAT testing is also available with a TAT of just 10-12 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.

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 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

Popular WGS Tests

WGS – Proband Only WGS
WGS TRIO
STAT WGS – Proband Only
STAT WGS – TRIO

Test Resources

Sample Report
Test Requisition Form
TRIO Family Member Form

WGS Test Options

Test Code Test Name Turn Around Time
D2000 Whole Genome Sequencing Proband Only 6-8 weeks Learn More
D2005 Whole Genome Sequencing, Proband ONLY – With StepOne® Biochemical Profile 6-8 weeks Learn More
Test Code Test Name Turn Around Time
D2300 Whole Genome Sequencing, TRIO 6-8 weeks Learn More
D2301 Whole Genome Sequencing, TRIO with Parental Reports 6-8 weeks Learn More
D2305 Whole Genome Sequencing, TRIO – With StepOne® Biochemical Profile 6-8 weeks Learn More
D2306 Whole Genome Sequencing, TRIO – With StepOne® Biochemical Profile with Parental Reports 6-8 weeks Learn More
Test Code Test Name Turn Around Time
D2010 STAT Whole Genome Sequencing, Proband ONLY 10 -12 days Learn More
D2020 STAT Whole Genome Sequencing, Proband ONLY – With StepOne® Biochemical Profile 10 -12 days Learn More
Test Code Test Name Turn Around Time
D2310 STAT Whole Genome Sequencing TRIO 10 -12 days Learn More
D2311 STAT Whole Genome Sequencing TRIO with Parental Reports 10 -12 days Learn More
D2320 STAT Whole Genome Sequencing TRIO, plus StepOne® Biochemical Profile 10 -12 days Learn More
D2321 STAT Whole Genome Sequencing TRIO with Parental Reports, plus StepOne® Biochemical Profile 10 -12 days Learn More
Test Code Test Name Turn Around Time
D0502 Reanalysis and Interpretation for Whole Genome Sequencing (Internal Data) 2-4 weeks Learn More
D0552 Reanalysis and Interpretation for Whole Genome Sequencing (External Data) 2-4 weeks Learn More
Test Code Test Name Turn Around Time
D2999 Whole Genome Sequencing Family Member 6-8 weeks Learn More
D2600 Whole Genome Sequencing Additional Family Member (Add-On) 6-8 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 Genome Sequencing FAQs

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).

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

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.

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.

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

For pricing, please email PerkinElmer Genomics or call us at 1-866-354-2910.

PerkinElmer Genomics does accept commercial insurance for standard WGS testing options (D2000 and D2300). For more information about our current billing policies please click here.

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’ standard WGS testing options have an average turn-around-time of 6-8 weeks. STAT testing options are also available to accelerate the delivery of results to patient, and have an average TAT of 10-12 days.

PerkinElmer Genomics follows the published ACMG guidelines when classifying identified variants.

All reported sequencing variants are confirmed using an orthogonal method.

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.

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 Informed Consent form to which findings they would like to receive in their report.

Contact PerkinElmer Genomics for more information

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