What are WES and WGS? WES (Whole Exome Sequencing) and WGS (Whole Genome Sequencing) are modern sequencing technologies that analyze genetic material (DNA) to identify changes that may be associated with diseases.
WES focuses on exons – the parts of genes that produce proteins and where approximately 85% of disease-causing mutations are located.
WGS analyzes the entire genome, including non-coding regions, providing a complete view of DNA.
What can the test detect? WES/WGS can identify: • Mutations that cause inherited diseases • Rare genetic diseases • Predisposition to certain conditions • Genetic variants of unknown significance (VUS)
Who should take this test? This test is recommended for: • Children with developmental delays or neurological disorders • Patients with clinically unexplained symptoms • Individuals suspected of having rare genetic diseases • Patients who have undergone other tests without a definitive result • Families with a history of genetic diseases
Results Results are usually available within 40 working days.
WES analyzes only the active parts of genes, whereas WGS analyzes the entire DNA.
It is one of the most accurate tests in modern genetics.
No, no specific preparation is required.
Not always, but it can detect a very wide range of genetic conditions.
Follow-up or additional testing may be required.
Yes, it is very useful for early diagnosis.
Yes, it is very important for interpreting the results.
