Whole Exome Sequencing

Most of the more than 20,000 DNA-related diseases and all cancers arise from damage to DNA. Most DNA damage or mutations occur in the region called “Exon,” which is responsible for protein coding in DNA. An exon is a name given to all of the meaningful and functional areas of DNA. We use the word exon if we are talking about only one of these regions. Although exons make up only 2% of DNA, they are responsible for 85% of diseases.


What is Whole Exome Sequencing?

Whole Exome Sequencing is a genetic diagnostic test used to identify the inherited cause of a disease.

With Whole Exome Sequencing, which makes the results tried to be achieved by gene analysis more specific, Gene mutations called “Exons” are detected from the structures in our genes. In other words, it is ensured that the regions that are the source of 85% of the deteriorations that cause genetic diseases can be examined with high accuracy.

Scientific studies have proven that certain changes in the exon cause diseases. Whole exome sequencing reveals these differences, helping to identify the source of the disease.


The Time Spent On Diagnosis Is Very Important

Instead of the time, effort and energy spent examining a whole gene structure, scanning the regions of “exome and exome-intron junctions” that cause disease formation enables the disease’s source to be determined faster and more qualified way. To apply this state-of-the-art sequencing method, a genetic disease must be suspected, or a preliminary diagnosis must be made.

The diagnostic yield of Whole Exome Sequencing is higher than some conventional gene diagnostic methods. A definitive diagnosis is typically achieved in 20-60% of cases, depending on medical expertise, with severe, early-onset disorders with the highest diagnosis rates.

Diagnoses with Whole Exome Sequencing

Exome sequencing enables the efficient study of coding variants in a wide range of applications, including population genetics, genetic disease, and cancer studies. Whole exome sequencing is increasingly used in clinical diagnosis, within a variety of indications, to identify the underlying genetic cause of the disease. Although single gene testing and gene panels are often used when a specific disorder associated with a small number of genes is suspected, Whole Exome Sequencing plays a significant role in diagnostic evaluation, particularly for genetically heterogeneous conditions such as neurological diagnoses. Whole Exome Sequencing was used as a diagnostic method in patients with multiple congenital anomalies, autism, epilepsy, brain malformations, congenital heart disease, and neurodevelopmental disability, and new gene and mutation relationships for these diseases were defined. Whole Exome Sequencing is advantageous because it comprehensively and unbiasedly analyzes all known disease-causing genes.


Who benefits most from Whole Exome Sequencing?

  • A complex, nonspecific genetic disorder with multiple differential diagnoses
  • A genetically heterogeneous disorder
  • A suspected genetic disorder for which a specific genetic test is not available
  • Previous genetic tests with no results.