Symptoms and Testing information for SCN1A Gene Generalized Epilepsy with Febrile Seizures Plus Type 2 Genetic Test

Symptoms and Testing information for SCN1A Gene Generalized Epilepsy with Febrile Seizures Plus Type 2 Genetic Test

Epilepsy is a complex neurological condition characterized by recurrent seizures. Among its various types, Generalized Epilepsy with Febrile Seizures Plus (GEFS+) stands out due to its genetic links, particularly to mutations in the SCN1A gene. Understanding this condition is crucial for affected families, and DNA Labs UAE offers a comprehensive genetic test specifically designed to identify mutations in the SCN1A gene associated with GEFS+ Type 2. This article delves into the symptoms of this condition and provides essential information about the genetic test available at DNA Labs UAE, including its cost.

Symptoms of SCN1A Gene Generalized Epilepsy with Febrile Seizures Plus Type 2

GEFS+ Type 2, associated with mutations in the SCN1A gene, presents a spectrum of epilepsy phenotypes. Initially, affected individuals may experience febrile seizures, which are seizures associated with fever, typically occurring in early childhood between the ages of 3 months and 6 years. However, as individuals with GEFS+ Type 2 age, they may develop a variety of seizure types beyond those triggered by fever, including:

  • Absence seizures, which are brief lapses in consciousness with minimal or no physical movement.
  • Myoclonic seizures, characterized by sudden, brief muscle jerks.
  • Atonic seizures, which lead to a sudden loss of muscle tone and can cause falls.
  • Tonic-clonic seizures, which involve a combination of muscle stiffness and rhythmic jerking.

Additionally, individuals with this condition may experience varying degrees of seizure severity, and in some cases, seizures may be resistant to traditional epilepsy treatments. It is also important to note that the manifestation of symptoms can vary widely even among members of the same family, making personalized medical guidance essential.

SCN1A Gene Generalized Epilepsy with Febrile Seizures Plus Type 2 Genetic Test at DNA Labs UAE

Recognizing the symptoms of GEFS+ Type 2 is the first step towards a definitive diagnosis, which can be achieved through genetic testing. DNA Labs UAE offers a specialized genetic test that analyzes the SCN1A gene for mutations known to be associated with GEFS+ Type 2. This test is crucial for confirming the diagnosis, understanding the risk of seizure recurrence, and guiding treatment decisions.

The test is conducted with a simple blood sample, making it a minimally invasive procedure. Once the sample is collected, it is analyzed using advanced genetic sequencing techniques to identify any mutations in the SCN1A gene. The results of this test can provide invaluable information for affected individuals and their families, including:

  • Confirmation of the GEFS+ Type 2 diagnosis.
  • Information on the risk of passing the condition on to future generations.
  • Guidance on personalized treatment and management strategies.

The cost of the SCN1A Gene Generalized Epilepsy with Febrile Seizures Plus Type 2 Genetic Test at DNA Labs UAE is 4400 AED. This cost includes the test itself, as well as pre-test and post-test counseling to ensure that individuals understand their results and the implications for their health and family.

For more information about this test and to schedule an appointment, please visit DNA Labs UAE.

In conclusion, GEFS+ Type 2 is a complex condition with a genetic basis. The symptoms can vary widely, making genetic testing a crucial step in achieving a definitive diagnosis and guiding treatment. DNA Labs UAE offers a comprehensive genetic test for individuals suspected of having this condition, providing them with the clarity and direction needed to manage their health effectively.

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