Short Description

NGS genetic DNA test detecets for variant and mutation detection in SCN9A gene for Generalized epilepsy with febrile seizures plus type 7

PreTest Information

Clinical History of Patient who is going for SCN9A Gene Generalized epilepsy with febrile seizures plus type 7 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SCN9A Gene Generalized epilepsy with febrile seizures plus type 7

Detail Description

SCN9A Gene Generalized Epilepsy with Febrile Seizures Plus Type 7 NGS Genetic DNA Test

SCN9A gene is responsible for encoding the alpha subunit of the voltage-gated sodium channel Nav1.7. Mutations in this gene can lead to a variety of disorders, including Generalized Epilepsy with Febrile Seizures Plus (GEFS+).

GEFS+ is a type of epilepsy that is characterized by seizures that occur with fever. The seizures can range from mild to severe and can occur in both children and adults. Other symptoms of GEFS+ can include developmental delays, cognitive impairment, and behavioral problems.

Symptoms

The symptoms of GEFS+ can vary from person to person. Some people may experience only mild seizures, while others may have more severe seizures that can last for several minutes. In addition to seizures, other symptoms of GEFS+ can include:

• Developmental delays
• Cognitive impairment
• Behavioral problems
• Learning disabilities
• Speech difficulties
• Muscle weakness
• Ataxia (lack of coordination)

Diagnosis

Diagnosing GEFS+ can be difficult, as the symptoms can be similar to those of other types of epilepsy. A doctor may perform a physical exam and order various tests to help diagnose the condition. These tests may include:

• Electroencephalogram (EEG)
• Magnetic resonance imaging (MRI)
• Computed tomography (CT) scan
• Blood tests
• Genetic testing

NGS Genetic DNA Test

NGS Genetic DNA Test is a type of genetic testing that can be used to diagnose GEFS+. This test involves sequencing the SCN9A gene to identify any mutations that may be present. The test is highly accurate and can provide a definitive diagnosis of GEFS+.

Cost

The cost of the NGS Genetic DNA Test for GEFS+ in India is INR 20,000.

Conclusion

If you or a loved one is experiencing symptoms of GEFS+, it is important to seek medical attention. A doctor can perform various tests to help diagnose the condition, including the NGS Genetic DNA Test. Early diagnosis and treatment can help improve outcomes and quality of life for those with GEFS+.

At DNA Labs India, we offer a variety of genetic testing services, including the NGS Genetic DNA Test for GEFS+. Contact us today to learn more about our services and how we can help.