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 copy number characterization for Spinal Muscular Atrophy (SMA)
Benefits of WGS
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