NR2E1 Gene Polymicrogyria Bilateral Occipital NGS Genetic DNA Test
Introduction to the Test
The NR2E1 Gene Polymicrogyria Bilateral Occipital NGS Genetic DNA Test is a specialized genetic test designed to identify mutations in the NR2E1 gene, which is associated with polymicrogyria, a condition characterized by abnormal brain development. This test is essential for pediatric patients exhibiting symptoms related to dysmorphology, allowing for early diagnosis and management.
What the Test Measures
This genetic test utilizes Next-Generation Sequencing (NGS) technology to detect variations in the NR2E1 gene. By analyzing the genetic material from a blood sample or extracted DNA, healthcare providers can determine the presence of mutations that may contribute to neurological conditions.
Who Should Consider This Test?
Families with a history of neurological disorders or developmental delays in children should consider this test. Symptoms that may indicate the need for testing include:
- Developmental delays
- Seizures
- Abnormalities in brain structure
- Intellectual disabilities
If any of these symptoms are present, consulting with a genetic counselor is recommended to discuss the benefits of testing.
Benefits of Taking the Test
- Early diagnosis of potential genetic disorders
- Informed family planning and management strategies
- Access to tailored treatment options and therapies
- Understanding the genetic risks for other family members
- Peace of mind through genetic insights
Understanding Your Results
Results from the NR2E1 Gene Polymicrogyria Bilateral Occipital NGS Genetic DNA Test will be interpreted by genetic specialists. A positive result may indicate the presence of a mutation, while a negative result suggests no detectable mutation. It is important to discuss results with a healthcare provider to understand their implications fully.
Test Pricing
| Price Type | Amount (NGN) |
|---|---|
| Discount Price | 400,000 |
| Regular Price | 560,000 |
Book Your Test Today!
To schedule the NR2E1 Gene Polymicrogyria Bilateral Occipital NGS Genetic DNA Test, please contact us at +2348077798758 or visit our website. Our team is ready to assist you in understanding your genetic health.
Test Details
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
- Pre-Test Instructions: Clinical history of the patient and a genetic counseling session to draw a pedigree chart of affected family members.
