Epilepsy genetic testing - see what you can do to find out what causes your seizures
It is estimated that up to 60% of patients experiencing seizures may be caused by genes.
What does it mean? More than half of the patients can have some information on where their health problems came from and what is the best way to treat them! Knowing the specific genetic cause of epilepsy allows you to adjust the individual choice of drugs and therapy. So that the treatment is as effective and safe as possible.
Make an appointment now - to the attending geneticist in our hospital
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What genetic tests for epilepsy can be performed?
Modern genetic tests are now available that will check hundreds of possible causes of epileptic seizures in one analysis. In many cases, this saves time and minimizes the time needed to introduce individual treatment.
- Study of "Epilepsy MAX"
- is the most extensive genetic test for epilepsy available on the market.
It includes checking the entire exome (WES), i.e. all known human genes for individual symptoms of epilepsy. The WES test checks hundreds of genetic causes of epilepsy with one analysis. After receiving the result, the patient has confidence that epilepsy is caused by changes in genes (and if so by what). The WES test analyzes each gene with the greatest possible accuracy - even very rare mutations in the genes are reported.
Thanks to the WES survey you will learn about, among others genetic causes of epilepsy such as:
Dravet syndrome (all genes and changes associated with this disease),
metabolic diseases (a group of about 600 diseases that can cause seizures),
tuberous sclerosis,
Rett syndrome.
What else is included in the package "EPILEPS MAX"?
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CNV changes (microdeletions and microduplications within the examined exome) towards the causes of epilepsy. This range is similar to the microarray test - not every WES test available on the market will show such changes, and they are particularly important in the diagnosis of the causes of intellectual disorders and epilepsy,
the study reports changes in genes of uncertain pathogenicity, the so-called 'VUS' - changes that are very rare,
on request, the patient can receive information about mutations posing a risk of diseases not related to the current symptoms (e.g. a tendency to elevated cholesterol levels, elevated iron or copper levels, and hundreds of others),
the patient has the option of updating the result in the future with the latest medical reports,
the test result is issued in a maximum of 10 weeks!
venous blood is the test sample - we organize a sample collection at the patient's home or at a nearby clinic,
price: PLN 5,870. -
Study "BASIC EPILEPS"
The "BASIC EPILEPS" study is a panel of 132 selected genes which, according to the latest scientific research, are responsible for the symptoms of epilepsy. The test is performed using the NGS (next generation sequencing) technology.
the test result is issued in a maximum of 10 weeks!
venous blood is the test sample - we organize a sample collection at the patient's home or at a nearby clinic,
price: 3 887 PLN.
- Testing for the selected genetic disease
In this test, performed with NGS technology, any genes (up to 9 genes) indicated by a specialist can be selected. The test can be performed when a specific genetic disorder is suspected (the patient's symptoms strongly suggest it) or when the rhodium disease is hereditary and is diagnosed in the patient's family.
the test result is issued in a maximum of 6 weeks!
the test sample is a cheek swab - we organize a sample collection at the patient's home or a nearby clinic, you can also take the swab yourself,
price: 2 750 PLN.
Source:
[1] Dorota Hoffman-Zacharska, Encefalopatie padaczkowe – diagnostyka następnej generacji, Zakład Genetyki Medycznej, Instytut Matki i Dziecka, Warszawa DOI:10.20966/chn.2017.52.396
