Whole Genome Sequencing

Whole genome sequencing (WGS) provides the most comprehensive review of an individual’s genetic variation by determining the complete chromosomal DNA sequence, as well as the full mitochondrial DNA sequence. Whereas most genetic tests focus on a single gene or on a set number of predetermined genes, WGS tests examine the complete genetic code, including the most technically challenging regions, at once. WGS testing may expose carrier status for recessive gene disorders, susceptibility for adult-onset diseases, and other predictive health-related information.

WGS produces a comprehensive dataset for known human mutations in exons, introns, and regulatory regions (5’ untranslated regions/promoter regions). WGS detects copy number variations (CNVs), translocations, splice site variants, regulatory region variants, and insertions/deletions (including their position on the genome) to help interpret their downstream effects in coding regions. This level of analysis may be particularly useful in cancer cases, severe and complex mental retardation, especially rare genetic diseases, and cases that have been undiagnosable or misdiagnosed.

Often considered as a point of escalation beyond whole exome sequencing (WES), the WGS test outperforms WES in terms of overall sequencing coverage for both the WES-targeted exonic and the non-coding regions.

Existing research and diagnosis of especially rare genetic diseases have been heavily biased towards mutations in coding regions of the gene, but this covers only 1% of a patient’s entire genome. Numerous clinical studies revealed the critical role of non-coding sequence variants in diseases. WGS opens the door to greater research and diagnostic power for all genetic diseases because it gives complete coverage of the genome sequence.

For additional detail, please visit the CENTOGENE website.

• Unclear or atypical phenotype with a missing clinical diagnosis
• Phenotype with significant genetic heterogeneity, where mutations in several genes may lead to the same clinical presentation (e.g., neuropathies, ataxias, intellectual disability, and muscular disorders)
• Causative cancer mutation in tumours at every stage of treatment
• Whole exome sequencing recipients without conclusive results
• Parents and/or family members who are willing to participate in the testing process (facilitates more reliable result interpretation and increases diagnostic yield from 20% to over 40%)

• Results available made available to the physician within 6 weeks, depending on the package and options selected
• There are no age or health restrictions on this test; it can be taken at any time, by anyone
• Timing estimates do not include time required for physician appointments, requisitions, consent signatures, sample collection, or courier/shipping times (samples are analyzed in Germany)

• May yield a diagnosis when no other genetic test has
• Offers many of the same benefits of whole exome sequencing and more
• Delivers more reliable, uniform coverage and analysis of DNA compared to WES, while doing so on a deeper level of analysis
• Allows examination of coded, structural, and non-coded regions of the genome and identifies noncoding pathogenic variation
• Provides complete exome coverage and other clinically relevant genomic sequences, while also flagging disease-causing exome variants
• May assist in determining mutation prevalence or frequency across generations or populations in larger studies across many patients
• Facilitates tailored treatments; provides actionable information to prevent disease and improve outcomes
• Powers a shift from reactive to preventative medicine

Reports are sent to physicians only. LifeLabs Genetics will not share results directly with patients. The ordering physician will receive an email when results become available. Results are never shared via email; results will be made available on the CENTOGENE portal for viewing and downloading.

Results documentation includes the following.

Sample Report:  [PDF; 248 KB]

Information sheet:  [PDF; 632 KB]

Requisition and Consent Forms: [PDF; 508 KB]

Incidental Findings

LifeLabs Genetics and CENTOGENE adhere to the “ACMG Recommendations for Reporting of Incidental Findings” and will not report on findings not directly related to the cause of a disease and not listed in the ACMG guidelines. However, it does mean that we will report variants detected in certain genes that are outlined in these recommendations as being medically actionable. If you would prefer not to receive this information in your report, it is possible to opt out of this service.