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SCN1A Gene Generalized epilepsy with febrile seizures plus type 2 NGS Genetic DNA Test Cost 20000 Rs
SCN1A Gene Generalized epilepsy with febrile seizures plus type 2 NGS Genetic DNA Test Details
Understanding SCN1A Gene and Generalized Epilepsy with Febrile Seizures Plus Type 2
Epilepsy is a neurological disorder that affects millions of people worldwide. It is characterized by seizures, which are sudden and uncontrolled bursts of electrical activity in the brain. There are many types of epilepsy, and each has its own unique set of symptoms and causes. One type of epilepsy is known as generalized epilepsy with febrile seizures plus type 2, which is caused by a mutation in the SCN1A gene.
What is the SCN1A Gene?
The SCN1A gene is responsible for producing a protein called sodium channel Nav1.1. This protein is essential for the normal functioning of nerve cells in the brain. The Nav1.1 protein helps to regulate the flow of sodium ions into and out of nerve cells, which is necessary for the transmission of electrical signals between neurons. A mutation in the SCN1A gene can disrupt the normal functioning of Nav1.1 protein, leading to the development of generalized epilepsy with febrile seizures plus type 2.
What is Generalized Epilepsy with Febrile Seizures Plus Type 2?
Generalized epilepsy with febrile seizures plus type 2 is a rare form of epilepsy that typically begins in childhood. It is characterized by seizures that occur in response to fever and can last for several minutes. The seizures are typically generalized, meaning that they involve the entire brain. Other symptoms of this condition may include developmental delays, cognitive impairment, and behavioral problems.
How is Generalized Epilepsy with Febrile Seizures Plus Type 2 Diagnosed?
Diagnosing generalized epilepsy with febrile seizures plus type 2 typically involves a combination of clinical evaluation and genetic testing. A neurologist will typically conduct a thorough physical and neurological exam to assess the patient's symptoms and overall health. They may also order an electroencephalogram (EEG) to measure the electrical activity in the brain.
In addition to these tests, genetic testing can be used to identify mutations in the SCN1A gene that are associated with generalized epilepsy with febrile seizures plus type 2. Next-generation sequencing (NGS) genetic DNA testing is a highly accurate and reliable method for detecting genetic mutations. This type of testing involves sequencing the entire genome of an individual to identify any genetic abnormalities that may be contributing to their symptoms.
What is the Cost of NGS Genetic DNA Test for SCN1A Gene Generalized Epilepsy with Febrile Seizures Plus Type 2?
The cost of NGS genetic DNA testing for SCN1A gene generalized epilepsy with febrile seizures plus type 2 can vary depending on the testing facility and the specific tests that are ordered. However, on average, the cost of this type of testing is around INR 20,000.
Conclusion
Generalized epilepsy with febrile seizures plus type 2 is a rare form of epilepsy that is caused by a mutation in the SCN1A gene. This condition typically begins in childhood and is characterized by seizures that occur in response to fever. Diagnosing this condition typically involves a combination of clinical evaluation and genetic testing, including NGS genetic DNA testing. The cost of NGS genetic DNA testing for SCN1A gene generalized epilepsy with febrile seizures plus type 2 is around INR 20,000.
If you or someone you know is experiencing symptoms of generalized epilepsy with febrile seizures plus type 2, it is important to seek medical attention and discuss the possibility of genetic testing with a healthcare provider.
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