Whole Exome Sequencing (WES)
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 business days||Less than 30 business days|
|Coverage depth||Coverage of 100x, with approx. 97% of the |
targeted bases covered >10x
|Medical reporting using CentoMD®||✓||✓|
|Additional testing |
|CPT codes|| |
CentoXome® Solo: 81415
CentoXome® Solo with array: 81415, 81228
CentoXome® with mitochondrial: 81415, 81460
CentoXome® Trio: 81415, 81416(2x)
CentoXome® Trio with array: 81415, 81416(2x), 81228
CentoXome® Trio with mitochondrial: 81415, 81416(2x), 81460(2x)
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
A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia
Based on the ambition to provide maximum diagnostic yield, CENTOGENE offers follow up of negative WES/WGS reports in a research setting. Recently, this approach resulted in the association of a special form of congenital hydrocephalus with bi-allelic inactivation of the DLG5 gene. The finding, which…
Although the genetic load is high in early-onset Parkinson’s disease, thorough investigation of the genetic diagnostic yield has yet to be established. The objectives of this study were to assess variants in known genes for PD and other movement disorders and to find new candidates in 50 patients…
Development of an Evidence-Based Algorithm that Optimizes Sensitivity and Specificity in ES-Based Diagnostics of a Clinically Heterogeneous Patient Population
Next-generation sequencing (NGS) is rapidly replacing Sanger sequencing in genetic diagnostics. Sensitivity and specificity of NGS approaches are not well-defined, but can be estimated from applying NGS and Sanger sequencing in parallel. Utilizing this strategy, we aimed at optimizing exome…
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.