Short Description

NGS genetic DNA test detecets for variant and mutation detection in ARHGEF9 gene for Early infantile epileptic encephalopathy type 8

PreTest Information

Clinical History of Patient who is going for ARHGEF9 Gene Early infantile epileptic encephalopathy type 8 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ARHGEF9 Gene Early infantile epileptic encephalopathy type 8

Detail Description

ARHGEF9 Gene Early Infantile Epileptic Encephalopathy Type 8 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Early Infantile Epileptic Encephalopathy (EIEE) is a rare disorder that affects infants and young children. It is a type of epilepsy that causes seizures and developmental delays. EIEE is caused by mutations in several genes, including the ARHGEF9 gene. The ARHGEF9 gene provides instructions for making a protein that is important for the development and function of the brain. Mutations in this gene can cause EIEE type 8, which is a severe form of the disorder.

NGS Genetic DNA testing is a powerful tool for diagnosing EIEE. This test can detect mutations in the ARHGEF9 gene and other genes that cause EIEE. The test is performed using a small sample of blood or saliva, and results are usually available within a few weeks. The cost of this test in India is around INR 20,000.

Symptoms of EIEE type 8

The symptoms of EIEE type 8 usually appear within the first few months of life. Infants with this disorder may experience:

• Frequent seizures that are difficult to control with medication
• Developmental delays, including delays in motor skills and speech
• Intellectual disability
• Muscle weakness and stiffness
• Poor feeding and weight gain

It is important to note that the symptoms of EIEE type 8 can vary widely from person to person. Some individuals may have mild symptoms, while others may have more severe symptoms.

Diagnosis of EIEE type 8

Diagnosing EIEE type 8 can be challenging because the symptoms are similar to other types of epilepsy. However, genetic testing can help confirm the diagnosis. NGS Genetic DNA testing is the most accurate way to diagnose EIEE type 8. This test can detect mutations in the ARHGEF9 gene and other genes that cause EIEE. The test is performed using a small sample of blood or saliva, and results are usually available within a few weeks.

Conclusion

EIEE type 8 is a rare disorder that can cause seizures and developmental delays in infants and young children. Genetic testing, such as NGS Genetic DNA testing, is the most accurate way to diagnose this disorder. The cost of this test in India is around INR 20,000. If you suspect that your child may have EIEE type 8, it is important to seek medical attention and talk to your doctor about genetic testing.

At DNA Labs India, we offer NGS Genetic DNA testing for EIEE type 8 and other genetic disorders. Our testing is accurate, reliable, and affordable. Contact us today to learn more about our services.