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 four 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 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
Includes analysis of mitochondrial DNA
Short Tandem Repeat (STR) screening of more than 30 genes, including genes associated with intellectual disability and movement disorders.
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- If allele expansion cannot be reliably ruled out, further confirmatory diagnostic testing is recommended to provide a definitive diagnosis
SMN1 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 4 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.
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.
WGS Test Options
| Test Code | Test Name | Turn Around Time | |
| D2000 | Whole Genome Sequencing Proband Only |
4-8 weeks |
 Order Test |
| Test Code | Test Name | Turn Around Time | |
| D2300 | Whole Genome Sequencing, TRIO | 4-8 weeks | Order Test |
| D2301 | Whole Genome Sequencing, TRIO with Parental Reports | 4-8 weeks | Order Test |
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.
PerkinElmer Genomics’ standard WGS testing options have an average turn-around-time of 4-8 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.