GABRA1 Gene Early Infantile Epileptic Encephalopathy Type 19 Genetic Test
Test Name: GABRA1 Gene Early Infantile Epileptic Encephalopathy Type 19 Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
Price: 4400.0 AED
Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
Report Delivery: 3 to 4 Weeks
Method: NGS Technology
Test Type: Neurological Disorders
Doctor: Neurologist
Test Department: Genetics
Pre Test Information: Clinical History of Patient who is going for GABRA1 Gene Early Infantile Epileptic Encephalopathy Type 19 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GABRA1 Gene Early Infantile Epileptic Encephalopathy Type 19.
Test Details
The GABRA1 gene is associated with Early Infantile Epileptic Encephalopathy Type 19 (EIEE19), which is a rare genetic disorder characterized by seizures that start in the first few months of life. The disorder is caused by mutations in the GABRA1 gene, which provides instructions for making a protein that helps regulate the activity of certain brain cells.
NGS genetic testing can be used to identify mutations in the GABRA1 gene that may be causing EIEE19. This type of testing involves sequencing the entire gene to look for changes in the DNA sequence that may be affecting the function of the protein. Identification of mutations in the GABRA1 gene can help with diagnosis, prognosis, and treatment of EIEE19.
Treatment options may include anticonvulsant medications, ketogenic diet, and other therapies to manage seizures and improve quality of life. Genetic counseling may also be recommended for affected individuals and their families.
Test Name | GABRA1 Gene Early infantile epileptic encephalopathy type 19 Genetic Test |
---|---|
Components | |
Price | 4400.0 AED |
Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card o |
Report Delivery | 3 to 4 Weeks |
Method | NGS Technology |
Test type | Neurological Disorders |
Doctor | Neurologist |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for GABRA1 Gene Early infantile epileptic encephalopathy type 19 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with GABRA1 Gene Early infantile epileptic encephalopathy type 19 |
Test Details |
The GABRA1 gene is associated with Early Infantile Epileptic Encephalopathy Type 19 (EIEE19), which is a rare genetic disorder characterized by seizures that start in the first few months of life. The disorder is caused by mutations in the GABRA1 gene, which provides instructions for making a protein that helps regulate the activity of certain brain cells. NGS genetic testing can be used to identify mutations in the GABRA1 gene that may be causing EIEE19. This type of testing involves sequencing the entire gene to look for changes in the DNA sequence that may be affecting the function of the protein. Identification of mutations in the GABRA1 gene can help with diagnosis, prognosis, and treatment of EIEE19. Treatment options may include anticonvulsant medications, ketogenic diet, and other therapies to manage seizures and improve quality of life. Genetic counseling may also be recommended for affected individuals and their families. |