Genetic testing can play a crucial role in identifying the underlying cause of epilepsy. A more precise diagnosis helps doctors select the most appropriate treatment strategy and choose the most effective medication for each individual patient.
In some cases, a confirmed genetic diagnosis may also provide insights into the long-term outlook of the condition. For example, in certain genetic epilepsies of childhood, seizures may naturally improve or even resolve with age, potentially allowing for a safe withdrawal of anti-seizure medications under medical supervision.
Additionally, genetic testing can:
- Identify individuals at increased risk for developing epilepsy
- Assess the likelihood of passing epilepsy to future generations
- Provide valuable information to family members regarding their own risk, supporting informed decision-making about family planning.
Types of Genetic Testing
Several different genetic tests may be used, depending on the clinical situation. You may undergo one or more types of testing, especially if initial results are inconclusive.
Common types of genetic tests include:
- NGS panel (Next-Generation Sequencing panel):
Targets the most common epilepsy-associated genes. - Chromosomal Microarray (CMA) and Array-Comparative Genomic Hybridization (Array-CGH):
Analyzes chromosomes for extra or missing segments or abnormalities. - Whole Exome Sequencing (WES):
A comprehensive analysis of the coding regions of DNA, searching for genetic variants linked to epilepsy. - Whole Genome Sequencing (WGS):
The most complete form of genetic testing, analyzing the entire DNA sequence
How Is Genetic Testing Performed?
Genetic testing starts with a consultation with a clinical geneticist, during which you will discuss:
- Your health history
- Circumstances of your birth and early development
- Health information about your family members
Following the consultation, a blood sample is collected for analysis according to the specific recommendations of your treating epileptologist.
Note: You do not need to fast before the blood draw.
Once the analysis is complete, results will be sent to both your referring doctor and to you personally.
Possible Test Results
- Positive: A specific genetic cause for epilepsy is identified.
- Negative: No genetic cause is detected with the current testing. Important: A negative result does not completely rule out a genetic cause; further or more detailed testing may be recommended.
- Uncertain (VUS – Variant of Uncertain Significance): A genetic variation is found, but its relevance to the disease is unclear. These findings may be reclassified over time as more information becomes available.
Depending on the outcome, testing of family members may also be recommended to provide additional information for diagnosis and genetic counseling.
