OCLN Gene Band-like Calcification with Simplified Gyration and Polymicrogyria NGS Genetic DNA Test
Understanding OCLN Gene Disorders
The OCLN Gene Band-like Calcification with Simplified Gyration and Polymicrogyria NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This specialized test focuses on identifying mutations in the OCLN (occludin) gene, which plays a critical role in brain development and the formation of the blood-brain barrier. When mutations occur in this gene, they can lead to severe neurological conditions characterized by abnormal brain structure and function.
What Does This Test Measure?
Our advanced NGS Genetic DNA Test specifically targets and analyzes the OCLN gene to detect:
- Pathogenic variants associated with band-like brain calcifications
- Genetic mutations causing simplified gyration patterns
- Variants linked to polymicrogyria development
- Specific nucleotide changes affecting brain barrier formation
- Inheritance patterns of OCLN-related disorders
Who Should Consider This Test?
This comprehensive genetic test is recommended for individuals presenting with:
- Unexplained developmental delays in infancy or childhood
- Recurrent seizures or epilepsy of unknown origin
- Intellectual disability with neurological symptoms
- Abnormal brain imaging findings showing calcifications
- Family history of similar neurological conditions
- Microcephaly or other cranial abnormalities
- Motor function impairments with suspected genetic causes
Clinical Indications and Symptoms
Patients exhibiting the following symptoms may benefit from OCLN gene testing:
- Progressive neurological deterioration
- Vision problems related to cortical visual impairment
- Spasticity and movement disorders
- Feeding difficulties in infancy
- Abnormal muscle tone and reflexes
- Cognitive impairment with structural brain abnormalities
Benefits of OCLN Genetic Testing
Choosing our OCLN Gene NGS Test provides numerous advantages:
- Accurate Diagnosis: Precise identification of OCLN gene mutations enables targeted treatment approaches
- Family Planning: Understanding inheritance patterns helps families make informed reproductive decisions
- Personalized Care: Genetic results guide specialized neurological management and interventions
- Early Intervention: Early detection allows for timely therapeutic interventions and support services
- Research Contribution: Participation helps advance understanding of rare neurological disorders
Advanced NGS Technology
Our test utilizes state-of-the-art Next-Generation Sequencing technology, offering:
- High-resolution genetic analysis with exceptional accuracy
- Comprehensive coverage of the entire OCLN gene
- Detection of both common and rare genetic variants
- Rapid turnaround time of 3-4 weeks
- Multiple sample options for patient convenience
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your OCLN gene test results:
- Positive Result: Indicates the presence of pathogenic OCLN gene mutations, confirming the diagnosis and guiding treatment strategies
- Negative Result: Suggests that OCLN gene mutations were not detected, though other genetic causes may need investigation
- Variant of Uncertain Significance: Some genetic changes may require additional family studies for proper interpretation
- Carrier Status: Identifies individuals who carry the mutation but may not show symptoms
Pre-Test Requirements
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree
- Documentation of affected family members
- Relevant medical imaging and neurological assessments
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major cities including:
- New York City and surrounding areas
- Los Angeles and Southern California
- Chicago and the Midwest region
- Houston and Texas metropolitan areas
- Phoenix and Arizona communities
- Philadelphia and the Northeast corridor
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological symptoms delay proper diagnosis and treatment. Our OCLN Gene NGS Test provides the genetic answers you need to make informed healthcare decisions. With our specialized expertise in pediatric genetics and advanced NGS technology, we deliver reliable results that can transform patient care.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our compassionate team is here to guide you through every step of the testing process and provide the support your family deserves.
