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GRIN2D Gene Early infantile epileptic encephalopathy type 46 Genetic Test

4,400 د.إ

-21%

The GRIN2D gene plays a crucial role in the functioning of the nervous system, encoding a subunit of NMDA receptors that are involved in synaptic transmission and plasticity in the brain. Mutations in the GRIN2D gene have been associated with early infantile epileptic encephalopathy type 46 (EIEE46), a severe form of epilepsy that manifests in infancy. This condition is characterized by frequent seizures that are resistant to treatment, developmental delays, and other neurological issues.

To diagnose this genetic condition, DNA Labs UAE offers a specialized genetic test targeting the GRIN2D gene. The test is designed to identify mutations in the GRIN2D gene that are linked to EIEE46, providing crucial information for the diagnosis and management of the condition. Early diagnosis through genetic testing can help in managing the symptoms more effectively and can guide treatment decisions.

The cost of the GRIN2D gene test at DNA Labs UAE is 4400 AED. The test involves collecting a DNA sample, typically through a blood draw or a cheek swab, which is then analyzed in the laboratory for the presence of mutations in the GRIN2D gene. Results from this test can provide valuable insights into the genetic basis of the patient’s condition, aiding in the development of a personalized treatment plan.

Families with a history of EIEE46 or who have a child showing symptoms consistent with early infantile epileptic encephalopathy may consider this genetic test as part of their diagnostic journey. DNA Labs UAE ensures a comprehensive analysis, providing families and healthcare providers with critical information to support those affected by this challenging condition.

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GRIN2D Gene Early Infantile Epileptic Encephalopathy Type 46 Genetic Test

Test Name: GRIN2D Gene Early Infantile Epileptic Encephalopathy Type 46 Genetic Test

Components: Blood or Extracted DNA or One drop Blood on FTA Card

Price: 4400.0 AED

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 GRIN2D Gene Early Infantile Epileptic Encephalopathy Type 46 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GRIN2D Gene Early Infantile Epileptic Encephalopathy Type 46.

Test Details: The GRIN2D gene is associated with Early Infantile Epileptic Encephalopathy Type 46 (EIEE46), which is a rare genetic disorder characterized by seizures that begin in the first few months of life. NGS genetic testing can detect mutations in the GRIN2D gene that may be responsible for this disorder. This test can help diagnose EIEE46 and provide information about the risk of passing the condition on to offspring. Treatment for EIEE46 is focused on managing seizures and may include medications, dietary changes, and other therapies.

Test Name GRIN2D Gene Early infantile epileptic encephalopathy type 46 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 GRIN2D Gene Early infantile epileptic encephalopathy type 46 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with GRIN2D Gene Early infantile epileptic encephalopathy type 46
Test Details

The GRIN2D gene is associated with Early Infantile Epileptic Encephalopathy type 46 (EIEE46), which is a rare genetic disorder characterized by seizures that begin in the first few months of life. NGS genetic testing can detect mutations in the GRIN2D gene that may be responsible for this disorder. This test can help diagnose EIEE46 and provide information about the risk of passing the condition on to offspring. Treatment for EIEE46 is focused on managing seizures and may include medications, dietary changes, and other therapies.