The Whole Exome Sequencing (WES) test involves sequencing the coding regions of genes in the human body, i.e., whole exome sequencing, where mutations can impinge on the formation of defective proteins and result in genetic disorders. The test involves analyzing 20,000 genes for mutations in them. Detection of such mutations allows the implementation of appropriate therapy at an early stage of the disease or identification of a disease entity that often cannot be determined by other diagnostic tests.

The test material is DNA isolated from blood. The test is based on the Next Generation Sequencing ( NGS) technique, which makes it possible to precisely identify sequences of coding genes in which mutations can cause genetic diseases.

The WES TRIO test differs from the standard WES test in that it offers the possibility of including genetic material from the patient’s parents in the analysis as well. The DNA of all test subjects is first sequenced and then compared with each other for the presence of the same gene variations. Checking the genes of the parents makes it easier to make the right diagnosis. It also makes it possible to determine whether a disease is hereditary, and if so, from which parent the sick patient inherited the defective gene. The result of the WES TRIO test thus provides valuable information on the patient’s health status, as well as that of his immediate family members.

WES examination – indications

The WES examination is intended for both children and adults who present with various worrisome symptoms and health problems, including those of unknown cause, such as:

• intellectual disabilities
• autistic disorders
• epilepsy
• facial dysmorphia
• diseases of the skeletal system
• frequent infections, which may indicate congenital immune deficiencies
• muscular atrophy (muscular dystrophies)
• symptoms from the digestive system
• symptoms suggestive of metabolic disease

Whole-exome sequencing is also used in the diagnosis of:

• predisposition to cancer
• carriage of genetic diseases

Why perform WES and WES TRIO testing?

• The WES test is the most extensive testing of the coding parts of the genome available on the market
• The patient does not have to repeatedly donate blood, as would be the case if each gene had to be tested separately.
• The test offers a chance to shorten the entire diagnostic process.
• The test offers a chance to reduce diagnostic costs.
• With the WES test, the patient can start effective treatment sooner.
• The result of the test is valid for life and can also be used in the future.

The WES test does not require any special preparations. The patient does not need to come for it on an empty stomach. He should only remember to hydrate his body properly so that the blood is not too thick during the collection.