EPILEPSY COMPREHENSIVE
Epilepsy, a neurological disorder characterized by recurring seizures, can result from various causes such as injuries, illnesses, genetic factors, or unknown origins. Diagnosis typically follows two or more unprovoked seizures, with symptoms varying but often including jerky movements, loss of consciousness, confusion, muscle stiffness, and unexplained feelings of fear or anxiety.
This panel encompasses a comprehensive range of genes associated with seizure activity, whether in syndromic or non-syndromic diseases. It incorporates all genes found in the Neonatal, Childhood, Adolescent/Adult, and PME Epilepsy Panels.
Who should consider this test?
This panel is advisable for individuals with a personal and/or family history of epilepsy and seizures. It may be considered following a diagnosis of epilepsy in a patient.
What are the potential advantages for my patient?
Genetic testing aids in establishing or confirming a diagnosis of inherited epilepsy and pinpointing the responsible pathogenetic variant. This information guides treatment to effectively manage and prevent further seizures or associated health issues.
Genetic testing for epilepsy can:
- Confirm or establish the correct diagnosis
- Inform family members about their own risk factors
- Identify risks for additional related symptoms
- Personalize treatment and symptom management
- Offer insights into the clinical progression of the disease
- Connect patients with pertinent resources and support
- Provide options for family planning