AARS1 Gene Early Infantile Epileptic Encephalopathy Type 29 Genetic Test
Welcome to DNA Labs UAE, where we offer the AARS1 Gene Early Infantile Epileptic Encephalopathy Type 29 Genetic Test. This test is designed to diagnose Early Infantile Epileptic Encephalopathy type 29 (EIEE29), a rare genetic disorder characterized by seizures and developmental delays that begin in infancy.
Test Details
The AARS1 gene is associated with EIEE29. This gene provides instructions for making an enzyme called alanyl-tRNA synthetase, which is essential for protein synthesis in the body. Mutations in the AARS1 gene can disrupt the normal function of the enzyme, leading to the development of EIEE29.
Our AARS1 Gene Early Infantile Epileptic Encephalopathy Type 29 Genetic Test utilizes NGS (Next Generation Sequencing) Technology. This method allows us to analyze multiple genes at once, enabling us to identify mutations in the AARS1 gene that may be responsible for EIEE29. By diagnosing the condition early on, we can provide early intervention and management strategies.
In addition to diagnosing EIEE29, our test can also identify carriers of the gene mutation. This information is crucial for genetic counseling and family planning.
Test Components
- Price: 4400.0 AED
- Sample Condition: Blood
- Report Delivery: 3 to 4 Weeks
- Method: NGS Technology
- Test Type: Neurological Disorders
- Doctor: Neurologist
- Test Department: Genetics
Pre Test Information
Prior to undergoing the AARS1 Gene Early Infantile Epileptic Encephalopathy Type 29 Genetic Test, it is important to provide the clinical history of the patient. This information helps our team better understand the individual’s symptoms and medical background.
We also recommend a Genetic Counseling session to draw a pedigree chart of family members affected by AARS1 Gene Early Infantile Epileptic Encephalopathy Type 29. This chart helps us assess the genetic inheritance pattern and provide personalized recommendations.
Conclusion
The AARS1 Gene Early Infantile Epileptic Encephalopathy Type 29 Genetic Test offered by DNA Labs UAE is a valuable tool for diagnosing and managing EIEE29. With our NGS Technology, we can identify mutations in the AARS1 gene and provide early intervention strategies. Additionally, we offer genetic counseling services to support families affected by this rare genetic disorder.
For more information or to schedule a test, please contact our Genetics Test Department or consult with a Neurologist.
Test Name | AARS1 Gene Early infantile epileptic encephalopathy type 29 Genetic Test |
---|---|
Components | |
Price | 4400.0 AED |
Sample Condition | Blood |
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 AARS1 Gene Early infantile epileptic encephalopathy type 29 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with AARS1 Gene Early infantile epileptic encephalopathy type 29 |
Test Details |
The AARS1 gene is associated with Early Infantile Epileptic Encephalopathy type 29 (EIEE29), a rare genetic disorder characterized by seizures that begin in infancy and developmental delays. The AARS1 gene provides instructions for making an enzyme called alanyl-tRNA synthetase, which plays a critical role in the process of making proteins in the body. Mutations in the AARS1 gene can disrupt the normal function of the enzyme, leading to the development of EIEE29. NGS (Next Generation Sequencing) Genetic Testing is a method used to analyze multiple genes at once, allowing for the identification of mutations in the AARS1 gene that may be responsible for EIEE29. This type of testing can help diagnose the condition early on, allowing for early intervention and management. It can also help identify carriers of the gene mutation and provide genetic counseling for families. |