Short Description

NGS genetic DNA test detecets for variant and mutation detection in SCN1A gene for Early infantile epileptic encephalopathy type 6

PreTest Information

Clinical History of Patient who is going for SCN1A Gene Early infantile epileptic encephalopathy type 6 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SCN1A Gene Early infantile epileptic encephalopathy type 6

Detail Description

SCN1A Gene Early Infantile Epileptic Encephalopathy Type 6 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

SCN1A gene early infantile epileptic encephalopathy type 6 (EIEE6) is a rare genetic disorder that affects the brain and causes seizures. It is caused by mutations in the SCN1A gene, which provides instructions for making a protein that helps regulate the flow of sodium ions in brain cells. Mutations in this gene can disrupt the normal function of these cells, leading to seizures and other neurological symptoms.

Symptoms of SCN1A Gene Early Infantile Epileptic Encephalopathy Type 6

The symptoms of SCN1A gene EIEE6 typically begin in the first few months of life and include:

• Frequent seizures
• Developmental delay
• Intellectual disability
• Difficulty with movement and coordination
• Abnormal muscle tone
• Behavioral problems

Diagnosis of SCN1A Gene Early Infantile Epileptic Encephalopathy Type 6

The diagnosis of SCN1A gene EIEE6 is typically made through genetic testing. This involves analyzing a blood or saliva sample to look for mutations in the SCN1A gene. Other tests, such as electroencephalography (EEG) and magnetic resonance imaging (MRI), may also be used to help diagnose the condition and determine the extent of brain damage.

NGS Genetic DNA Test for SCN1A Gene Early Infantile Epileptic Encephalopathy Type 6

Next-generation sequencing (NGS) is a type of genetic testing that can be used to analyze multiple genes at once. This can be particularly useful for rare genetic disorders like SCN1A gene EIEE6, as it allows for a more comprehensive analysis of a patient's DNA. The cost of an NGS genetic DNA test for SCN1A gene EIEE6 in India is typically around INR 20,000.

Conclusion

SCN1A gene early infantile epileptic encephalopathy type 6 is a rare genetic disorder that can cause seizures and other neurological symptoms. Genetic testing, including NGS, can be used to diagnose the condition and determine the best course of treatment. If you suspect that you or your child may have SCN1A gene EIEE6, talk to your doctor about genetic testing and other diagnostic options.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS genetic DNA testing for SCN1A gene EIEE6. Contact us today to learn more about our services and how we can help you get the answers you need.

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 SCN1A Gene Early infantile epileptic encephalopathy type 6 NGS Genetic DNA Test