RELN Gene Lissencephaly Type 2 Norman-Roberts Type NGS Genetic DNA Test
Comprehensive Genetic Testing for Brain Development Disorders
The RELN Gene Lissencephaly Type 2 Norman-Roberts Type NGS Genetic DNA Test represents a breakthrough in pediatric neurology diagnostics. This advanced genetic analysis specifically targets mutations in the RELN gene, which plays a critical role in proper brain development and neuronal migration during fetal growth. Lissencephaly type 2, also known as Norman-Roberts syndrome, is a rare congenital brain malformation characterized by an abnormally smooth cerebral surface lacking the normal convolutions and folds.
What This Test Measures and Detects
Our comprehensive NGS-based genetic test examines the entire RELN gene sequence to identify pathogenic variants responsible for lissencephaly type 2. The test specifically detects:
- Point mutations, deletions, and insertions in the RELN gene
- Pathogenic variants affecting reelin protein production
- Genetic abnormalities disrupting neuronal migration patterns
- Inherited or de novo mutations causing brain malformations
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with symptoms suggestive of lissencephaly type 2 or related neurological disorders:
Clinical Indications and Symptoms
- Infants and children with developmental delays and intellectual disability
- Patients experiencing recurrent seizures or epilepsy
- Individuals with abnormal muscle tone (hypotonia or hypertonia)
- Children showing feeding difficulties and failure to thrive
- Patients with microcephaly or other cranial abnormalities
- Individuals with family history of neurological disorders
- Children exhibiting motor function impairment and coordination issues
Significant Benefits of Early Genetic Testing
Undergoing the RELN Gene Lissencephaly Type 2 test provides numerous advantages for patients and families:
Diagnostic and Management Benefits
- Definitive Diagnosis: Provides conclusive genetic confirmation of lissencephaly type 2
- Early Intervention: Enables timely implementation of therapeutic strategies
- Genetic Counseling: Facilitates informed family planning decisions
- Treatment Guidance: Helps optimize seizure management and developmental support
- Prognostic Information: Provides insights into disease progression and outcomes
- Research Contribution: Advances understanding of rare neurological conditions
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret and understand your test results:
Result Interpretation Guidance
- Positive Result: Indicates presence of pathogenic RELN gene mutation confirming lissencephaly type 2 diagnosis
- Negative Result: Suggests absence of detectable RELN mutations, though other genetic causes may be considered
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines inheritance patterns and recurrence risks
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | RELN Gene Lissencephaly Type 2 Norman-Roberts Type 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 and Preparation
To ensure accurate testing and comprehensive care, we require:
- Complete clinical history of the patient
- Genetic counseling session to create detailed family pedigree
- Documentation of neurological symptoms and developmental milestones
- Previous imaging studies (MRI/CT scans) if available
Nationwide Accessibility and Support
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, and San Jose. Our comprehensive network ensures accessible genetic testing and counseling services for families nationwide.
Take Action Today for Better Neurological Health
Don’t wait to get answers about complex neurological conditions. Our specialized genetic testing provides the clarity needed for proper diagnosis and management of lissencephaly type 2. Early genetic identification can significantly impact treatment outcomes and quality of life.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book the RELN Gene Lissencephaly Type 2 Norman-Roberts Type NGS Genetic DNA Test. Our expert genetic counselors are ready to guide you through the testing process and help you understand your results.
Take the first step toward definitive diagnosis and comprehensive care for neurological development disorders. Contact us now to schedule your appointment and begin your journey to better understanding and management of complex genetic conditions affecting brain development.
