Whole exome sequencing
For certain patients the combination of symptoms does not allow the clinician to pinpoint a potential diagnosis. In such cases ordering genetic testing becomes complex and a stepwise diagnostic strategy often substantially increases costs. Furthermore, a delayed diagnosis may have a significant impact on the patient’s quality of life.
Most of the disease-causing mutations that have been identified so far (about 85%) are located within the exons. Whereas most genetic tests focus on a single gene or on a subset of predetermined genes, whole exome sequencing test examines thousands of genes simultaneously.
CentoXome®, CENTOGENE’s whole exome sequencing service, offers a fast and cost-effective one-step solution which involves sequencing all exons across the genome.
Why choose CentoXome®?
all exons >
End-to-end bioinformatics analysis of raw data >
Validation of the sequencing results >
World-class clinical reports
When is WES 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:
- Intellectual disability / developmental delay
- Muscular dystrophy
- Retinitis pigmentosa
- Bone and connective tissue disorders
- Undiagnosed metabolic disorder
- Short stature
- Complex dysmorphic features
Fully unclear phenotypes:
- Physician cannot provide any plausible diagnosis for the cause of the symptoms; the interpretation of the genetic data is more complex
CentoXome® case studies
Detailed insights can be found in our cases studies and scientific publications.
My positive diagnostic rate has gone up from 15% using just CGH microarray to 80% using targeted sequencing and whole exome sequencing. I am now able to do proper, informed genetic counseling.
Tailored services to your patient's needs
|Features||CentoXome® Platinum||CentoXome® Gold|
|TAT||Less than 15 days||Less than 30 days|
|Coverage depth||Coverage of 100x, with approx. 97-98% of the |
targeted bases covered >10x
|Medical reporting using CentoMD®||✓||✓|
|Additional testing |
|Order CentoXome® Platinum||Order CentoXome® Gold|
Reporting your results
High-quality reporting is a key essential for building a partnership of trust. Our philosophy is more than just producing technical data. The extensive interpretation of clinical data delivered with our comprehensive medical reports includes differential diagnostic approaches as well as a detailed interpretation of key findings.
What does our reporting involve?
- Clinical information evaluation
- Detailed method description
- Clear results of identified variants following international best-practice guidelines (Council of Medical Specialty Societies, American College of Medical Genetics)
- Comprehensive medical interpretation with differential diagnostic approaches, if applicable
- References to publications supporting the medical and scientific results
- Recommendations for follow-up analyses for specific diseases
- Coverage report of genes
Clinical anamnesis and reporting
One consequence of whole exome sequencing is the increased amount, complexity, and variety of results that need to be interpreted. It is therefore of utmost importance to obtain specific and detailed clinical information from the index patient and the parents (TRIO) when performing exome sequencing.
Withholding any clinical or medical information – including your patient’s family history – may impact test results and their interpretation. Missing clinical information could lead to exclusion of genetic variants which might be relevant for the patient.
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.
Latest articles about whole exome sequencing
Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction
Clinical and laboratory data were collected from three Finnish patients including a sibling pair and another unrelated child with unexplained childhood hypoglycemia. Transient elevation of alanine transaminase, lactate and tricarboxylic acid cycle intermediates, especially fumarate, were noticed in urine organic acid analysis. Exome sequencing was performed for the patients and their parents. A novel homozygous PCK1 c.925GNA (p.G309R) mutation was detected in all affected individuals.
Solving the diagnostic riddle - Diagnosing heterogeneous genetic disorders with 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.
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.