Short Description

NGS genetic DNA test detecets for variant and mutation detection in SCN8A gene for Early infantile epileptic encephalopathy type 13

PreTest Information

Clinical History of Patient who is going for SCN8A Gene Early infantile epileptic encephalopathy type 13 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SCN8A Gene Early infantile epileptic encephalopathy type 13

Detail Description

SCN8A Gene Early Infantile Epileptic Encephalopathy Type 13 NGS Genetic DNA Test

Early infantile epileptic encephalopathy (EIEE) is a rare genetic disorder that affects infants within the first few months of their life. EIEE is characterized by seizures, developmental delay, and intellectual disability. SCN8A gene mutations have been identified as a cause of EIEE type 13.

SCN8A gene is responsible for encoding a sodium channel called Nav1.6. This channel is important for the proper functioning of neurons in the brain. Mutations in the SCN8A gene can affect the functioning of Nav1.6, leading to abnormal electrical activity in the brain and seizures.

Symptoms of SCN8A Gene Early Infantile Epileptic Encephalopathy Type 13

The symptoms of SCN8A Gene Early Infantile Epileptic Encephalopathy Type 13 can vary from person to person. Some common symptoms include:

• Seizures that start in the first few months of life
• Severe developmental delay
• Intellectual disability
• Abnormal muscle tone
• Difficulty feeding
• Difficulty sleeping
• Abnormal eye movements

Diagnosis of SCN8A Gene Early Infantile Epileptic Encephalopathy Type 13

Diagnosis of SCN8A Gene Early Infantile Epileptic Encephalopathy Type 13 can be done through genetic testing. Next-generation sequencing (NGS) is a powerful tool that can analyze multiple genes simultaneously. This makes it an efficient and effective tool for diagnosing genetic disorders.

The genetic test for SCN8A Gene Early Infantile Epileptic Encephalopathy Type 13 can be done using a blood or saliva sample. The sample is sent to a laboratory for analysis, and the results are usually available within a few weeks.

Cost of SCN8A Gene Early Infantile Epileptic Encephalopathy Type 13 NGS Genetic DNA Test

The cost of SCN8A Gene Early Infantile Epileptic Encephalopathy Type 13 NGS Genetic DNA Test in India is approximately INR 20,000. The cost may vary depending on the laboratory and location.

Conclusion

SCN8A Gene Early Infantile Epileptic Encephalopathy Type 13 is a rare genetic disorder that affects infants within the first few months of their life. The disorder is characterized by seizures, developmental delay, and intellectual disability. Genetic testing using Next-generation sequencing (NGS) can be used to diagnose the disorder. The cost of the test in India is approximately INR 20,000.

If you suspect that your child may have SCN8A Gene Early Infantile Epileptic Encephalopathy Type 13, it is important to consult with a genetic counselor or medical professional for proper diagnosis and treatment.

At DNA Labs India, we provide comprehensive genetic testing services for a variety of genetic disorders, including SCN8A Gene Early Infantile Epileptic Encephalopathy Type 13. Our team of experts can help you understand the results of your genetic test and provide guidance on the best course of action.

Contact us today to learn more about our genetic testing services and how we can help you.

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 SCN8A Gene Early infantile epileptic encephalopathy type 13 NGS Genetic DNA Test