NR2E1 Gene Polymicrogyria Bilateral Occipital NGS Genetic DNA Test
Comprehensive Genetic Testing for Brain Malformation Disorders
The NR2E1 Gene Polymicrogyria Bilateral Occipital NGS Genetic DNA Test represents a breakthrough in pediatric neurology and genetic diagnostics. This advanced testing method specifically targets the NR2E1 gene, which plays a critical role in brain development and cortical organization. Polymicrogyria is a complex brain malformation characterized by excessive folding of the cerebral cortex with abnormal small gyri, particularly affecting the occipital lobes responsible for visual processing.
What This Test Measures and Detects
Our specialized NGS genetic test precisely identifies:
- Mutations in the NR2E1 gene associated with bilateral occipital polymicrogyria
- Specific genetic variants affecting brain cortical development
- Inheritance patterns of polymicrogyria-related genetic conditions
- Risk assessment for family members through comprehensive genetic analysis
Who Should Consider This Test
This genetic test is recommended for individuals presenting with:
- Developmental delays in infancy or early childhood
- Seizures or epilepsy of unknown origin
- Visual processing difficulties or cortical visual impairment
- Abnormal brain MRI findings showing polymicrogyria
- Family history of brain malformations or neurological disorders
- Unexplained intellectual disability in children
- Motor coordination challenges and movement disorders
Key Benefits of NR2E1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Definitive Diagnosis: Confirms or rules out NR2E1-related polymicrogyria
- Personalized Treatment Planning: Enables targeted therapeutic interventions
- Family Genetic Counseling: Provides crucial information for reproductive planning
- Early Intervention: Facilitates timely developmental support services
- Prognostic Information: Helps understand potential developmental outcomes
- Research Contribution: Advances understanding of rare neurological conditions
Understanding Your Test Results
Our genetic counseling team provides comprehensive result interpretation:
- Positive Result: Indicates presence of NR2E1 gene mutation associated with polymicrogyria
- Negative Result: Suggests absence of tested NR2E1 mutations
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important for family planning and genetic counseling
All results are accompanied by detailed explanations from our certified genetic counselors, ensuring you fully understand the implications for your child’s health and development.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | NR2E1 Gene Polymicrogyria Bilateral Occipital NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
To ensure accurate testing and comprehensive care:
- Complete clinical history of the patient
- Genetic counseling session to create detailed family pedigree
- Documentation of affected family members with similar conditions
- Previous neurological evaluations and brain imaging reports
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and pediatric neurologists ensures you receive expert care regardless of your location.
Take the Next Step Toward Answers
If your child is experiencing symptoms suggestive of polymicrogyria or has unexplained neurological challenges, don’t wait to get answers. Our NR2E1 genetic test provides the clarity needed for proper diagnosis and treatment planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book the NR2E1 Gene Polymicrogyria Bilateral Occipital NGS Genetic DNA Test. Our compassionate team is ready to guide you through every step of the testing process and help you understand what the results mean for your child’s future.
Early genetic diagnosis can make a significant difference in managing neurological conditions and optimizing developmental outcomes. Trust the experts at General Genetics Corporation for accurate, reliable genetic testing you can depend on.
