Short Description

NGS genetic DNA test detecets for variant and mutation detection in EEF1A2 gene for Early infantile epileptic encephalopathy type 33

PreTest Information

Clinical History of Patient who is going for EEF1A2 Gene Early infantile epileptic encephalopathy type 33 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with EEF1A2 Gene Early infantile epileptic encephalopathy type 33

Detail Description

EEF1A2 Gene Early Infantile Epileptic Encephalopathy Type 33 NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

EEF1A2 gene early infantile epileptic encephalopathy type 33 is a rare genetic disorder that affects the brain and causes seizures. It is caused by mutations in the EEF1A2 gene, which is responsible for making a protein that is important for the proper functioning of nerve cells in the brain.

Symptoms of EEF1A2 Gene Early Infantile Epileptic Encephalopathy Type 33

The symptoms of EEF1A2 gene early infantile epileptic encephalopathy type 33 usually begin in the first year of life. Infants with this disorder often have seizures that are difficult to control with medication. They may also have developmental delays, intellectual disability, and movement problems. Other symptoms may include:

• Poor muscle tone
• Difficulty feeding
• Delayed speech development
• Abnormal eye movements
• Behavioral problems

Diagnosis of EEF1A2 Gene Early Infantile Epileptic Encephalopathy Type 33

EEF1A2 gene early infantile epileptic encephalopathy type 33 is diagnosed through genetic testing. This may include:

• Next-generation sequencing (NGS) genetic testing
• Sanger sequencing
• Other molecular genetic testing

NGS genetic testing is a type of genetic testing that allows for the analysis of multiple genes at once. It is a highly accurate and efficient way to diagnose genetic disorders like EEF1A2 gene early infantile epileptic encephalopathy type 33.

Cost of EEF1A2 Gene Early Infantile Epileptic Encephalopathy Type 33 NGS Genetic DNA Test

The cost of EEF1A2 gene early infantile epileptic encephalopathy type 33 NGS genetic DNA testing in India is around INR 20,000. This cost may vary depending on the laboratory and the specific testing method used.

Conclusion

EEF1A2 gene early infantile epileptic encephalopathy type 33 is a rare genetic disorder that affects the brain and causes seizures. It is diagnosed through genetic testing, which may include NGS genetic testing. The cost of this testing in India is around INR 20,000. If you suspect that your child may have EEF1A2 gene early infantile epileptic encephalopathy type 33, it is important to speak with a genetic counselor or healthcare provider to determine the best course of action for your child's care.