Short Description

NGS genetic DNA test detecets for variant and mutation detection in SCN2A gene for Early infantile epileptic encephalopathy type 11

PreTest Information

Clinical History of Patient who is going for SCN2A Gene Early infantile epileptic encephalopathy type 11 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SCN2A Gene Early infantile epileptic encephalopathy type 11

Detail Description

SCN2A Gene Early Infantile Epileptic Encephalopathy Type 11 NGS Genetic DNA Test - Cost, Symptoms, Diagnosis

Early Infantile Epileptic Encephalopathy Type 11 (EIEE11) is a rare genetic disorder that affects the central nervous system and results in seizures and developmental delay in infants. It is caused by mutations in the SCN2A gene that codes for a protein called sodium channel Nav1.2. This protein is essential for the proper functioning of neurons in the brain. Mutations in the SCN2A gene disrupt the normal activity of Nav1.2 protein, leading to abnormal electrical activity in the brain and the onset of seizures.

The symptoms of EIEE11 usually appear within the first few months of life. Infants with EIEE11 may experience frequent seizures that are difficult to control with medication. They may also have developmental delay, intellectual disability, and problems with movement and coordination. Other symptoms may include breathing difficulties, feeding difficulties, and sleep disturbances.

Diagnosis of EIEE11

The diagnosis of EIEE11 is based on a combination of clinical features and genetic testing. Doctors may perform electroencephalography (EEG) to detect abnormal electrical activity in the brain. Magnetic resonance imaging (MRI) may also be used to rule out other conditions that can cause seizures and developmental delay.

Genetic testing is the most reliable method for diagnosing EIEE11. Next-generation sequencing (NGS) is a powerful tool that can sequence multiple genes simultaneously and detect mutations in the SCN2A gene. NGS can be performed on a blood sample or a cheek swab.

Cost of SCN2A Gene Early Infantile Epileptic Encephalopathy Type 11 NGS Genetic DNA Test

The cost of the SCN2A Gene Early Infantile Epileptic Encephalopathy Type 11 NGS Genetic DNA Test in India is around INR 20,000. The cost may vary depending on the laboratory and the location.

Conclusion

EIEE11 is a rare genetic disorder that can cause seizures and developmental delay in infants. Early diagnosis is essential for effective management of the condition. Genetic testing using NGS is a reliable method for diagnosing EIEE11. The cost of the SCN2A Gene Early Infantile Epileptic Encephalopathy Type 11 NGS Genetic DNA Test is around INR 20,000.

At DNA Labs India, we offer a wide range of genetic tests, including the SCN2A Gene Early Infantile Epileptic Encephalopathy Type 11 NGS Genetic DNA Test. Our tests are performed using state-of-the-art technology and are interpreted by experienced geneticists. We are committed to providing accurate and reliable genetic testing services at an affordable cost. Contact us today to learn more.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for SCN2A Gene Early infantile epileptic encephalopathy type 11 NGS Genetic DNA Test