What is the autism genetic panel WES (Whole Exome Sequencing)?
The autism genetic panel is actually a genetic diagnostic test called WES (Whole Exome Sequencing). It is a test that is not only used in Autism, but also helps diagnose rare genetic diseases of neurology that cannot be diagnosed.
WES test (Whole Exome Sequencing):
It is used to diagnose rare genetic diseases. It is a very useful genetic test to fully understand the structure of heredity and to choose the right genetic test, especially for diseases such as Autism, whose related gene has not yet been identified or categorized in detail. By applying Whole Exome Sequencing (WES) testing, the coding regions of thousands of genes can be tested simultaneously, without having to select a specific gene or group of genes to examine.
With WES, changes in DNA can be identified by focusing on functional regions of the genome. The exome is the set of DNA sequences of genes that produce proteins essential for the function of our bodies. Most of the disease-causing mutations that science has been able to identify so far have been detected in exon regions. While most genetic tests used in the diagnosis of diseases screen only a single gene or a few genes thought to be involved in the disease, WES tests screen thousands of genes simultaneously. Therefore, it is highly effective in revealing the genetic causes of complex clinical pictures. WES is also an ideal method for finding new mutations in various diseases and identifying atypical findings in many diseases.
In the differential diagnosis of autism, WES can be used to differentiate autism-like clinical manifestations of other genetic diseases and to diagnose whether Autism candidate genes are present in the patient. It therefore sheds light on the genetic basis of Autism cases.
Can the autism genetic panel WES (Whole Exome Sequencing) be applied in every institution?
WES cannot be applied in every institution.
How is the autism genetic panel WES (Whole Exome Sequencing) applied?
It can be done by taking 1 or 2 tubes of blood. Detailed clinical findings should be shared with the laboratory by the patient's physician during sample collection. Family history, test results and clinical examination findings should be evaluated together when interpreting the test result. If deemed necessary, samples can be taken from the patient's parents and siblings and the test can be performed on them as well.
