Genetic Testing WES at Neurosphera: What It Is and How It Supports the Diagnosis and Treatment of Epilepsy?

Modern medicine is increasingly effective at diagnosing genetically-based diseases. This is thanks to the improvement of DNA tests, which involve analyzing genetic material, that is, reading the information encoded within it – including information about mutations and other changes.

Epilepsy – Is the Cause in the Genes?

We know more and more about the genetic basis of epilepsy. Examining human genes provides neurologists with valuable, expanded knowledge about the heterogeneous origins of this disease, and based on DNA test results, a doctor can detect a genetic disorder and plan an effective and safe therapy for the patient. The result of a genetic test often shortens the diagnostic odyssey, reducing the number of necessary visits, specialist tests, and even hospitalizations.

However, the results of individual gene tests don’t always provide answers to the specialists’ questions – they are too selective. They are also labor-intensive and costly. The answer to the needs of patients and doctors is the WES test: the most innovative and comprehensive genetic test, also available for Neurosphera patients.

What is the WES Test?

The name of the WES genetic test is an acronym for Whole Exome Sequencing, which literally translates to: sequencing the entire exome.

What is the exome? It is a part of the human genome, i.e., the complete DNA of a person, where full genetic information about the human body is encoded.

This happens within a single analysis. This is a significant difference between WES testing and a standard genetic test, which checks only one or a few genes for a specific disease.

Exome sequencing, an innovative analysis that involves reading the sequence of proteins in genetic material, allows for extremely accurate identification of the causes of some diseases encoded in the protein-coding genes. This also applies to epilepsy. The WES test is therefore the ideal solution for patients suspected of having a genetic background to the disease.

WES Testing in Epilepsy − Benefits for Diagnosis and Treatment

The first benefit provided by WES testing is the aforementioned precise and one-time analysis. This eliminates the need for further DNA tests, saving time and money for the patient and their family or caregivers.

But this is not the only advantage of WES testing. A very important aspect is the ability to detect harmful (so-called pathogenic) mutations that lead to genetic diseases before clinical symptoms appear. This allows for accelerated medical intervention and the initiation of treatment at an early or very early stage. This is a crucial step in the development of genetic research. Thanks to the WES test, the practical significance of genetic testing for the patient and their family changes.

The WES test also allows for the estimation of the risk of genetic abnormalities in other family members, particularly predispositions to adult-onset diseases. This is also useful when planning offspring.

How Does the WES Test Work?

Another advantage of WES testing is its simplicity. It is undoubtedly one of the most innovative genetic tests available in modern medicine, while the procedure itself is very easy and, most importantly, safe for the patient.

The sample for WES testing can be either blood or a swab from the inside of the cheek. The next step is to complete a test form and send the sample to the laboratory. The waiting time for results is a few weeks (usually up to 10-15 weeks).

It may also happen that the sample taken from the patient is insufficient. While this is rare, it can occur. In such a case, the material is collected again.

Once the WES test results are received, the patient will discuss them with a geneticist. The cost of such a test depends on many factors, so it is worth inquiring about it individually at the place where the test will be conducted.

How to Register for the WES Test at Neurosphera?

Registering for the WES test at Neurosphera is also very simple and does not pose any significant problems for patients. To register for the test, simply contact the Neurosphera team, which is available to patients at +48 609 463 191 or via email at biuro@neurosphera.pl.

Author: Dr. hab. n. med. Krzysztof Szczałuba