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AARS1 Gene Early infantile epileptic encephalopathy type 29 Genetic Test

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The AARS1 gene plays a crucial role in the proper functioning of the human body by coding for alanyl-tRNA synthetase, an enzyme involved in protein synthesis. Mutations in this gene have been linked to early infantile epileptic encephalopathy type 29 (EIEE29), a severe form of epilepsy that manifests in the first few months of life. This condition is characterized by frequent seizures, developmental delays, and, in many cases, other neurological impairments.

To diagnose this condition accurately and early, genetic testing targeting the AARS1 gene can be performed. DNA Labs UAE offers a specialized genetic test for EIEE29, providing a crucial diagnostic tool for affected families. The test involves analyzing the patient’s DNA to identify mutations in the AARS1 gene that are known to cause the disorder. This information can aid in the development of a tailored treatment plan, potentially improving outcomes for the affected individual.

The cost of the AARS1 Gene Early Infantile Epileptic Encephalopathy Type 29 Genetic Test at DNA Labs UAE is 4400 AED. This investment covers the comprehensive analysis required to detect the specific genetic alterations associated with this condition, offering invaluable insights for affected families and their healthcare providers.

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  • This test is not intended for medical diagnosis or treatment
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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.