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GABRA1 Gene Early infantile epileptic encephalopathy type 19 Genetic Test

4,400 د.إ

-21%

The GABRA1 gene is associated with early infantile epileptic encephalopathy type 19 (EIEE19), a severe form of epilepsy that emerges in infancy. This condition is characterized by frequent seizures and significant developmental delays, affecting both cognitive and motor skills. The GABRA1 gene plays a crucial role in the functioning of GABA receptors, which are essential for inhibiting nerve transmission in the brain, thus preventing excessive neuronal activity that can lead to seizures.

Given the critical nature of accurately diagnosing EIEE19 for effective management and treatment, genetic testing for mutations in the GABRA1 gene is a valuable diagnostic tool. DNA Labs UAE offers a comprehensive genetic test specifically designed to identify mutations in the GABRA1 gene that are linked to early infantile epileptic encephalopathy type 19. The test is priced at 4400 AED and involves analyzing the patient’s DNA to detect any genetic alterations that may contribute to the condition.

Conducting this test can provide crucial information for families and healthcare providers, enabling them to understand the genetic underpinnings of the disorder, anticipate its progression, and tailor treatment plans accordingly. It is an essential step for those affected by or at risk of EIEE19, offering hope for better management of this challenging condition.

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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.