Whole-exome sequencing (WES)
An innovative genetic test covering all protein-coding gene sequences and mitochondrial DNA. It helps identify the causes of rare inherited diseases – even when symptoms are non-specific or clinical cases are complex.
Rare diseases: often a mystery that remains unsolved for a long time
Rare genetic disorders can affect anyone. They often present early in life, but symptoms may be non-specific, so an accurate diagnosis is frequently delayed for months or even years.
WES – whole-exome sequencing – examines the DNA regions where most known causes of rare diseases are found. It is one of the most informative genetic tests, helping clinicians understand the root cause of a patient’s condition faster and make targeted medical decisions.
What does whole-exome sequencing reveal?
Whole-exome sequencing (WES) analyses all coding DNA sequences, where the majority of known disease-causing variants for rare conditions are located. It is a highly informative test that helps determine the genetic cause of complex or unclear clinical cases. WES is often used as a first-line investigation when a genetic disorder is suspected but the phenotypic features are not clear.
Analyses the entire exome (i.e., all protein-coding gene sequences)
Includes mitochondrial DNA analysis
Evaluates single-nucleotide variants (SNVs), insertions and deletions (InDels), and copy number variants (CNVs)
Uses artificial intelligence technologies in data analysis
Trio option available: the patient’s data are compared with both biological parents to increase diagnostic accuracy
Faster diagnosis – more precise treatment selection
Whole-exome sequencing can uncover the genetic cause of rare diseases even when symptoms are unclear or non-specific. This is especially valuable when traditional testing does not lead to a clear clinical decision. The resulting information enables clinicians to diagnose more precisely, reduce unnecessary investigations, and design a personalised care plan.
Precise answers to complex questions
Helps identify the genetic cause of rare disease when other tests have not provided an answer.
Shortens the diagnostic journey
Reduces the time from first symptoms to a clear diagnosis and helps minimise the “diagnostic odyssey.”
Meaningful support for families and clinicians
Results can support next steps such as genetic counselling, testing of relatives, or family planning.
Personalised treatment plan
Once the genetic cause is identified, targeted treatment approaches, monitoring, or preventive measures can be applied.
When and for whom is the test recommended?
When a rare genetic disorder is suspected but symptoms are unclear
WES is especially useful when clinical signs are non-specific and do not point to a single diagnosis.
For children with developmental, cognitive, or intellectual disabilities
The ACMG recommends WES as a first-line test in such cases to support early diagnosis.
When other genetic tests have not revealed a diagnosis
If panel-based or single-gene tests were inconclusive, exome sequencing provides a broader view.
When a comprehensive single test is needed
Instead of multiple separate tests, one broad test can cover all known disease-associated genes.
WES reliability: accuracy and quality metrics
Whole-exome sequencing is performed using advanced next-generation sequencing (NGS) technology and covers both the exome and mitochondrial DNA. Artificial intelligence tools are used in interpretation, allowing ongoing updates as new scientific discoveries emerge.
95% high-accuracy exome coverage
10,000+ sequencing cases completed for clinical use
Ongoing data reanalysis in the event of a negative result
Genetics-based diagnostics for rare diseases
Take the whole-exome sequencing (WES) test to identify a possible genetic cause of rare or unexplained symptoms.
For Specialists
All key information in one place – from analysed regions to test accuracy and clinical value. This section is intended for specialists who want a detailed understanding of the test rationale, structure, and practical applications.
Whole-exome sequencing (WES) covers all protein-coding gene sequences, where most pathogenic variants linked to rare diseases are identified. The test is performed using next-generation sequencing (NGS), analysing:
- single-nucleotide variants (SNVs)
- insertions and deletions (InDels)
- copy number variants (CNVs)
- mitochondrial DNA is also analysed
Data analysis is additionally supported by artificial intelligence tools, enabling continuous updates to interpretations based on the latest scientific evidence.
Three analysis models may be used:
- Proband – the patient only
- Duo – the patient and one parent
- Trio – the patient and both biological parents (recommended to increase diagnostic accuracy)
Trio analysis helps more accurately identify de novo variants and differentiate inherited versus spontaneously occurring genetic changes.
WES is particularly useful when the patient’s phenotype is non-specific, when prior panel or single-gene testing has not established a diagnosis, or when a single comprehensive test is preferable to multiple narrower investigations. In addition, the American College of Medical Genetics and Genomics (ACMG) recommends WES as a first-line test for children with developmental, cognitive, or intellectual disabilities.