Whole Exome Sequencing with CentoXome®
The Next Generation of High Quality Genetic Testing
A new form of genetic testing called Whole Exome Sequencing (WES) identifies changes in DNA by
focusing on the most informative regions of the genome. The exome is the collection of those DNA
sequences of the genes that determine the production of proteins, which your body needs in order to
function properly. These regions are called exons.
Most of the disease-causing mutations that science has been able to identify so far are located within the exons. Whereas most genetic tests focus on a single gene or on a set number of predetermined genes, a WES test examines
thousands of genes simultaneously.
Around 1% of the human genome corresponds to protein-coding regions, representing ~30Mb split across ~180,000 exons of ~20,000 genes. The function of the rest of the genome remains largely unknown. Most of the human inherited disease-related mutations identified thus far are located in this small coding portion. Indeed about 85% of all disease-causing mutations in Mendelian disorders are most likely to be found within coding exons.
As a more cost-conscious alternative to the sequence analysis of the complete genome (WGS), focusing on the human exome allows the study of the complete set of protein-coding regions of the genome without having to choose a subset of genes for interrogation. Whole exome sequencing provides a comprehensive outlook on coding genetic variation to a degree that has never been possible before, surpassing traditional methods for the study of common, rare, and novel genetic variation, such as SNP arrays or single locus resequencing studies.
CentoXome® :: Centogene’s Whole Exome Sequencing
Highest medical quality at the most attractive price, Whole Exome TRIO testing
Making genetic testing of the highest quality universally available is a top priority for us. We are proud to announce the new release of CentoXome® Gold, whole exome TRIO testing with in-depth medical report and validation of the sequencing results including an extended clinical report
CentoXome® Gold - Key Features:
- Turnaround time of 30 working days at the most attractive price
- TRIO sequencing (index patient plus parents) and validation of the sequencing results including an extended clinical report
- approximately 95% target bp covered > 10x at 70-100x average coverage
- Reportable variants in > 60% of the cases
- Medical reporting by using Centogene’s proprietary variant database, CentoMD®
- CAP, CLIA and ISO certification and accreditation
CentoXome® Platinum: satisfying the highest requirements
Some cases require urgent attention (e.g. prenatal testing) and a superior coverage depth. The
CentoXome® Platinum service has the following additional unique quality characteristics:
- approximately 95% target bp covered > 20x at 100-130x average coverage
- Express turnaround time of less than 15 working days
The several thousand whole exome cases diagnosed at Centogene have demonstrated the true and proven clinical utility of CentoXome®. Most importantly, we have accumulated a huge body of medical experience which we utilize in every new patient testing. In the medical diagnostic process, informed decision-making can have a critical impact on the patient´s life; therefore we want to share this accumulated knowledge with you.
When is whole exome sequencing required?
For several patients the combination of symptoms does not allow to suspect certain single genetic causes with a high certainty. Therefore medical answers are likely to be obtained only through the sequencing the
complete coding region, i.e. the whole exome. We particularly recommend indicating whole exome
sequencing for patients with:
- neurodevelopmental disorders;
- bone diseases;
- metabolic disorders;
- short stature;
- complex dysmorphia;
- immunological disorders;
Detailed insights can be found in our cases studies and scientific publications.
Why is whole exome sequencing better than single gene or panel sequencing?
For complex and unclear symptoms exploring several single genes or gene panels is costly and time
consuming. Furthermore, delayed diagnosis has a dramatic impact on the patient’s quality of life. Whole exome sequencing provides information on all genes enabling a quicker and more cost-effective diagnostic solution.
Centogene is a world leader in the processing and clinical interpretation of genetic data for rare diseases and for oncology predisposition testing. We have more than 10 years of experience and have already
processed several thousand whole exome cases. Clearly structured, in-depth medical reports and solid
collaborations with our partners are also core components of our service. Centogene adheres to the highest medical quality standards as our processes and laboratory are CAP/CLIA accredited, and we promise to always walk the extra mile to provide truly clinically relevant test results.
Clinical anamnesis and reporting
For whole exome sequencing it is mandatory to obtain specific and detailed clinical information.
Withholding any clinical or medical information – including your patient’s family history – may impact test results and their interpretation.
In genetic testing, the interpretation of a given result typically depends on the inheritance mode (autosomal dominant, autosomal recessive, x-linked, etc.). Particularly for variations that have not yet been described, or for diseases that have not been categorized in detail, there may be problems in understanding the exact mode of inheritance.
Therefore we always need a detailed family history and pedigree to interpret the data correctly.
Our Mutation Database (CentoMD®) includes the systematic documentation of over 100,000 mutations and variants of unknown significance (VUS) coming from a worldwide cohort of patients. With CentoMD® we are offering a tool that addresses the necessity to transfer the findings into a comprehensive medical report, empowering clinical interpretation.
This improves significantly the quality and consistency of the diagnosis, impacting your patients' treatment options.
To find out more about reporting at CENTOGENE, please see some of our sample reports:
- Sample Report Canada
- Sample Report Israel
- Sample Report Kuwait
- Sample Report Lebanon
- Sample Report Libya
CENTOGENE adheres 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 (download here).
To download our CentoXome® brochure, please select:
To download our CentoXome® flyer, please select:
To download our CentoXome® request form, please click here.
For further questions, please call us at +49 381-203652-222 or Email us to benefit from our medical consultation service that we offer both before and after testing.
*Please note: Prenatal testing is currently not offered in the US. Please contact us directly.