When you need a medical answer

Tackling the diagnostic challenge with whole exome sequencing

With CentoXome®, CENTOGENE offers a cost-effective, one-step solution by sequencing an individual's entire genomic coding region.

  1. Whole Exome Sequencing

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®?


Cost-effective one-step solution

Needs only 1 μg of DNA

Highest quality sequencing (coverage, numbers of runs, etc.)

Validation of the sequencing results and extended clinical report

Our worklow - CentoXome® transfers complex data and findings into a comprehensive medical report


Sequencing of
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:


Heterogeneous phenotypes:

  • Intellectual disability / developmental delay
  • Cardiomyopathy
  • Epilepsy
  • Muscular dystrophy
  • Ataxia
  • Neuropathy
  • Deafness
  • Retinitis pigmentosa
  • Bone and connective tissue disorders
  • Undiagnosed metabolic disorder
  • Short stature
  • Complex dysmorphic features
  • Immunodeficiency

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.

Prof. Rose-Mary Boustany

Professor of Pediatrics and Adolescent Medicine, Beirut

Tailored services to your patient's needs

Features CentoXome® Platinum CentoXome® Gold
TAT Less than 15 days Less than 30 days
Prenatal testing
Coverage depth Coverage of 100x, with approx. 97-98% of the
targeted bases covered >10x
Medical reporting using CentoMD®
Additional testing
(e.g. aCGH)
  Order CentoXome® Platinum Order CentoXome® Gold

Downloads for whole exome sequencing

  • Whole exome sequencing - Patient information

    Download

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

Downloads for CentoXome® sample reports

  • CentoXome® Gold Solo diagnostic sample report

    Download
  • CentoXome® Gold Trio diagnostic sample report

    Download
  • CentoXome® Gold Trio plus diagnostic sample report

    Download

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

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