Whole exome sequencing
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 whole exome sequencing test examines thousands of genes simultaneously.
For certain patients the combination of symptoms does not allow the clinician to pinpoint a potential diagnosis. Therefore ordering genetic testing becomes complex and a stepwise diagnostic strategy which often significantly increases costs. Furthermore, a delayed diagnosis may have a dramatic impact on the patient’s quality of life. CentoXome®, CENTOGENE’s whole exome sequencing service, offers a fast and cost-effective one-step solution which involves sequencing the entire coding region.
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 variations, such as SNP arrays or single locus resequencing studies.
Why choose CENTOGENE?
Whole exome sequencing at CENTOGENE – CentoXome®
Satisfying the highest requirements
Some cases require urgent attention (e.g. prenatal testing) and a superior coverage depth. The CentoXome® Platinum service includes additionally to the CentoXome® Gold features these unique quality characteristics:
- Approx. 95% target bp covered >20x at 100–130x average coverage
- Express turnaround time of less than 15 days
Highest medical quality at the most attractive price
Making genetic testing of the highest quality universally available is a top priority.
CentoXome® Gold – whole exome TRIO testing:
- Validation of the sequencing results
- In-depth medical report
- Extended clinical report
Tailored services to your patient's needs
|Features||CentoXome® Platinum||CentoXome® Gold|
|Turnaround time||Less than 15 days||Less than 25 days|
|Coverage depth||100–130x average coverage (~95% targeted bases covered >20X)||70–100x average coverage (~95% targeted bases covered >10X)|
When is whole exome sequencing required?
For several patients the combination of symptoms does not allow suspecting specific single genetic causes with a high certainty. Therefore medical answers are likely to be obtained only through 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 dysmorphism
- Immunological disorders
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.).
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 for the transfer of 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.
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).
CentoXome® case studies
Detailed insights can be found in our cases studies and scientific publications.
Latest articles about whole exome sequencing
Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans
Global developmental delay (GDD), often accompanied by intellectual disability, seizures and other features is a severe, clinically and genetically highly heterogeneous childhood-onset disorder. In cases where genetic causes have been identified, de-novo mutations in neuronally expressed genes are a common scenario. These mutations can be best identified by exome sequencing of parent-offspring trios. De novo mutations in the guanine nucleotide-binding protein, beta 1 (GNB1) gene, encoding the Gβ1 subunit of heterotrimeric G proteins, have recently been identified as a novel genetic cause of GDD.
Gaining deep insights into whole exome sequencing (WES) workflow from lab to report and benefit from experiences via intensive Hands-on courses supervised by our experts.
A study was conducted using whole exome sequencing (WES) to identify underlying pathogenic variants, or likely pathogenic variants, in 1,000 diagnostic cases from 54 different countries. Patients selected displayed a wide variety in the number, nature and severity of symptoms. Clinical information given by the requesting physicians was translated to HPO terms and WES was performed on patient samples according to standardized settings.