GABRB1 Gene Early Infantile Epileptic Encephalopathy Type 45 NGS Genetic DNA Test
Introduction
The GABRB1 Gene Early Infantile Epileptic Encephalopathy Type 45 NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify genetic mutations associated with early infantile epileptic encephalopathy. This test utilizes Next Generation Sequencing (NGS) technology to analyze the GABRB1 gene, which plays a critical role in brain function and the regulation of neuronal excitability.
What the Test Measures
This test specifically measures variations or mutations in the GABRB1 gene that may lead to severe neurological disorders, particularly those manifesting as early-onset epilepsy. By detecting these mutations, healthcare providers can better understand the underlying causes of seizures and related symptoms in infants.
Who Should Consider This Test?
Parents or guardians of infants exhibiting symptoms such as:
- Recurrent seizures
- Developmental delays
- Abnormal brain activity as seen in EEG tests
- Family history of epilepsy or neurological disorders
are encouraged to consider this test. Additionally, it is recommended for patients with a clinical history suggestive of genetic epilepsy syndromes.
Benefits of Taking the Test
- Provides a definitive diagnosis, aiding in appropriate treatment planning.
- Helps in understanding the genetic basis of the disorder, which can guide family planning.
- Offers insights into prognosis and potential outcomes for affected individuals.
- Facilitates access to specialized care and support services.
Understanding Your Results
Results will be interpreted by a qualified healthcare provider, typically a neurologist or geneticist, who will explain the implications of any identified mutations. It is essential to understand that not all genetic variations lead to disease, and further counseling may be necessary to discuss the findings in the context of family health.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| GABRB1 Gene Early Infantile Epileptic Encephalopathy Type 45 NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book Your Test Today!
To book the GABRB1 Gene Early Infantile Epileptic Encephalopathy Type 45 NGS Genetic DNA Test, please contact us at +2348077798758 or visit our website for more information. Ensure your child receives the best possible care by understanding their genetic health.
Turnaround time for results is approximately 3 to 4 weeks, and the test can be conducted using a blood sample or extracted DNA. A genetic counseling session is recommended prior to testing to discuss family history and draw a pedigree chart of affected members.
