Whole Genome Sequencing

• Atypical phenotype without a 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)
• A suspected genetic disorder where previous testing has been uninformative

This test does not identify your ancestry. It is not recommended as a wellness screen, nor as a test to determine conditions for which you or your offspring may be susceptible to.

• Results available made available to the physician within 6 weeks; expedited expedited testing for prenatal cases is also available
• 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)

• 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
• >99% of targeted bases covered at >10x
• Deletion/duplication and mitochondrial analyses are included, when applicable
• Raw data (.fastq, .bam, or .vcf file formats) and research report available
• Prenatal testing also available
  Neither VUSes nor incidental findings are reported in prenatal samples
• Opt-out option available for incidental findings
  Incidental findings are only reported in the proband

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:

• Test type, date, methodology, result, and interpretation
• Positive result: Indicates a genetic variant was identified in a specific gene and that variant is pathogenic of likely pathogenic (highly likely to be causal of the disease-related condition).
• Uncertain result: Sometimes, gene variants are proven but their significance is not clear. This is stated in the results and discussed with you by your physician. This category of variant is not reported for fetal samples or samples from deceased persons.
• Negative result: If no disease-causing variant is found, genetic changes responsible for the disease or a tendency to have a disease may still exist and cannot usually be fully excluded.

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.

• Opt-out option available for incidental findings
  Incidental findings are only reported in the proband

Sample WGS reports

Sample Report WGS Solo Positive

Sample Report WGS Solo Negative

Sample Report WGS trio Positive index

Sample Report WGS trio Positive parent1

Sample Report WGS trio Positive parent2