Easy and painless gene testing for Epilepsy and related disorders
Epilepsy is a neurological condition that presents with the occurrence of seizures. The SCN1A gene test assists in making an accurate, early and definitive diagnosis for individuals experiencing seizures and provides information on optimal treatment management.
SCN1A gene test assists in diagnosing Severe Myoclonic Epilepsy of Infancy (SMEI) or Dravet Syndrome and other syndromes within the Generalised Epilepsy with Febrile Seizures Plus (GEFS+) spectrum.
Many SCN1A variations cause a loss of function of the sodium channel. Sodium channel blocking drugs are not suitable to SCN1A variation carriers as they further decrease the amount of inhibitory neurotransmitters in the brain, thus increasing seizure activity which can result in permanent damage. Results from the SCN1A testing help guide appropriate pharmacotherapy treatment.
SCN1A is also the cause of familial hemiplegic migraine 3 (FHM3), a form of migraine headaches that run in the family.
Knowing the genetic basis of a patient’s epilepsy is valuable for obtaining a definitive diagnosis, estimating prognosis, determining seizures recurrence risks, and guiding treatment choices. In many cases, the precise genetic diagnosis can be important in therapy selection, particularly when there are known contraindications or recommended treatment options based on genetic results.
Our Epilepsy tests are easy, painless, and less stressful for you and your child. Our tests are validated on saliva and cheek swab samples; mail us your sample using our postage paid kit provided.