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?
- Approximately 22,000 genes are analyzed
- Provides reliable results with a high accuracy rate
- Evaluated by a team of experts in the field
| WHAT IS THE SEQUENCING COVERAGE? | |||
| Number of Genes | Genomic Region Examined | 30x Coverage | Call rate |
| 22.000 | 37.5 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 clinician | Provision of raw data via a secure interface: fastQ, VCF, BAM and quality report | Detailed 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
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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:
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What Does It Offer You?
- Speeds up the diagnostic process
- Helps create personalized treatment plans
- Enables understanding of genetic disease risks
Why Eurofins Biomnis?
- An advanced medical laboratory with international accreditation (ISO 15189)
- High expertise and experience in genetic testing
- Detailed data analysis and interpretation by clinical pathologists
- Access to raw data (FASTQ, VCF, etc.)
- 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.
