Short Description

Early Infantile Epileptic Encephalopathy Gene Panel is performed using NGS methodology. Sample that have to be given is Amniotic fluid/ Chorionic villi/ Peripheral blood in Sterile container/ Sterile Normal Saline Container/ EDTA Vacutainer for this test. You can expect results in 4-6 weeks

PreTest Information

Early Infantile Epileptic Encephalopathy Gene Panel can be done with a Doctor’s prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad.

Detail Description

Early Infantile Epileptic Encephalopathy Gene Panel: Cost, Symptoms and Diagnosis

Early Infantile Epileptic Encephalopathy (EIEE) is a rare neurological disorder that affects infants and young children. It is characterized by seizures and developmental delay, and can be caused by mutations in various genes. The EIEE Gene Panel is a diagnostic test that can help identify the underlying genetic cause of the disorder.

Cost of EIEE Gene Panel

The cost of the EIEE Gene Panel in India is INR 36,000. This includes the cost of genetic testing and interpretation of the results by a team of experts. The test is available at DNA Labs India, a leading provider of genetic testing services in the country.

Symptoms of EIEE

The symptoms of EIEE typically appear within the first few months of life. Infants with the disorder may experience frequent seizures that are difficult to control with medication. They may also have developmental delays, including problems with motor skills, language, and cognitive function. Other symptoms may include:

• Abnormal muscle tone
• Difficulty feeding
• Abnormal eye movements
• Enlarged head size
• Repetitive movements

Diagnosis of EIEE

Diagnosing EIEE can be challenging, as the symptoms can be similar to those of other neurological disorders. A diagnosis is typically made based on a combination of clinical symptoms, medical history, and genetic testing.

The EIEE Gene Panel is a diagnostic test that can help identify the underlying genetic cause of the disorder. The test analyzes multiple genes that have been associated with EIEE, including SCN1A, STXBP1, and CDKL5. By identifying mutations in these genes, doctors can confirm a diagnosis of EIEE and provide more targeted treatment options.

Conclusion

The EIEE Gene Panel is a valuable diagnostic tool for infants and young children with early infantile epileptic encephalopathy. The test can help identify the underlying genetic cause of the disorder, which can lead to more targeted treatment options and improved outcomes. The cost of the test at DNA Labs India is INR 36,000, and the results are interpreted by a team of experts in the field of genetics.

If you suspect that your child may have EIEE, it is important to speak with a healthcare professional for an accurate diagnosis and appropriate treatment plan.