WES Test

What Is Whole Exome Sequencing (WES)?
Whole exome sequencing (WES) is an advanced genetic test that examines the protein-coding regions of our genes in detail. With this test, the cause of many genetic diseases can be identified more accurately and quickly.

How Is It Done?

  1. Approximately 22,000 genes are analyzed
  2. Provides reliable results with a high accuracy rate
  3. Evaluated by a team of experts in the field
WHAT IS THE SEQUENCING COVERAGE?
Number of GenesGenomic Region Examined30x CoverageCall rate
22.00037.5 Mb>98%*>99%**

* Target CDS RefSeq ± 3 base pairs
** Calculated using SNV data from NIST002 reference samples for 40 million read pairs. Coverage reflects technical performance and does not mean that a diagnosis will be made in every patient. Trio analysis with the mother and father is recommended.

HOW IS THE ANALYTICAL PROCESS?
Interpretation of an average of 30,000 variants together with the clinicianProvision of raw data via a secure interface: fastQ, VCF, BAM and quality reportDetailed result report within 4 weeks with an optimized process

 

CLINICIAN–GENETICS SPECIALIST COLLABORATION

A more accurate diagnosis for the patient through clinician–genetics specialist collaboration

  • One of the most important challenges of exome sequencing is the interpretation of variants.
  • Eurofins Biomnis provides access to SeqOne, a secure bioinformatics platform, so that clinicians and geneticists can take an active part in the data interpretation process.

SeqOne access allows the clinician not only to see the final report but also to participate more actively and knowingly in the interpretation of the patient's genetic data.

Main benefits for the clinician:

  1. Evaluating the genetic result together with clinical findings
    The detected variants can be correlated more accurately with the patient's phenotype, family history and clinical suspicion.
  2. More targeted interpretation
    Because the clinician knows which findings are prominent in the patient, they contribute to determining the clinical significance of the variants.
  3. Stronger diagnostic decision support
    The relationship of the detected variants with the disease, the inheritance pattern and possible clinical effects can be evaluated more clearly.
  4. Transparent and collaborative process
    Clinicians, the laboratory and geneticists can work in a more coordinated way by performing the evaluation on the same secure platform.
  5. Possibility of re-evaluation when needed
    If the patient's clinical picture changes or new scientific information emerges, the data can be reviewed again.


What Does It Offer You?

  1. Speeds up the diagnostic process
  2. Helps create personalized treatment plans
  3. Enables understanding of genetic disease risks

Why Eurofins Biomnis?

  1. An advanced medical laboratory with international accreditation (ISO 15189)
  2. High expertise and experience in genetic testing
  3. Detailed data analysis and interpretation by clinical pathologists
  4. Access to raw data (FASTQ, VCF, etc.)
  5. Sharing of results via a secure digital platform

Turnaround Time:
A detailed report is provided within an average of 4 weeks.

 

During working hours, you can visit our Nicosia or Kyrenia laboratory branches and quickly get your test done with a simple blood test.