Whole Genome Sequencing with CentoGenome®
The Most Efficient Mean of Testing for a Cause of Complex Genetic Problems.
CENTOGENE revolutionizes genetic diagnostics with CentoGenome® – our premium whole genome analysis service for the diagnosis of complex diseases.
Whole genome sequencing (WGS) with CentoGenome® provides the most comprehensive genetic testing available for the detection of rare diseases. It identifies more different types of DNA sequence variation and offers greater sensitivity than any other technology available.
CentoGenome® is the superior way to diagnose genetically complex and undiagnosed diseases with the highest level of certainty.
CENTOGENE performs whole genome sequencing in the index patient as well as in two family members (TRIO); or in affected relatives to provide the most complete diagnostic solution. A comprehensive view on genetic information paired with conclusive medical interpretation The large amount of data generated by WGS requires filtering and verification to accurately identify high-quality candidate variants and pinpoint the correct one, a skill that few variant physicians or analysts possess. This is where CENTOGENE provides exceptional expertise, with its proprietary database (CentoMD®) and it‘s expert medical team who have performed thousands of patient WES/WGS assessments.
CentoGenome® key benefits
- Produces a more comprehensive dataset for known human mutations in exons, introns and regulatory regions (5’ untranslated regions/promoter regions).
- Detects 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.
- Outperforms WES in terms of overall sequencing coverage but also for the non-coding region as well as for the WES targeted exonic regions.
- Datasets show fewer artefacts and are more accurate than WES because there is no need for a PCR enrichment step.
Use CentoGenome® for diagnosis when the patient presents:
- Complex and heterogenous syndromes with an unclear or atypical phenotype
- A phenotype with significant genetic heterogeneity, where mutations in several genes may lead to the same clinical presentation (for example neuropathies, ataxias, intellectual disability, and muscular disorders)
- Causative cancer mutation in tumors at every stage of treatment
We put extraordinary emphasis on medical validation, interpretation and
variant classification based on available clinical evidence supported by our unique mutation database (CentoMD®) plus other relevant standard databases.
CentoGenome® request form:
- CentoGenome® sample report Hyperphosphatasia positive
- CentoGenome® sample report Gitelman syndrome positive
*Please note: Prenatal testing is currently not offered in the US. Please contact us directly.