ATP1A3 Gene CAPOS Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The ATP1A3 Gene CAPOS Syndrome NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise identification of mutations associated with CAPOS syndrome. This comprehensive genetic analysis utilizes cutting-edge Next-Generation Sequencing technology to examine the ATP1A3 gene, which plays a critical role in neurological function and development.
What is CAPOS Syndrome?
CAPOS syndrome is a rare neurological disorder characterized by Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss. This condition results from mutations in the ATP1A3 gene, which encodes a sodium-potassium ATPase pump essential for maintaining proper neurological function and cellular homeostasis.
What the Test Measures and Detects
Our advanced NGS genetic testing specifically targets the ATP1A3 gene to identify pathogenic variants responsible for CAPOS syndrome. The test examines:
- Complete sequencing of the ATP1A3 gene coding regions
- Detection of point mutations, insertions, and deletions
- Identification of known pathogenic variants associated with neurological symptoms
- Comprehensive analysis of gene structure and function
Who Should Consider This Test
This genetic test is recommended for individuals experiencing:
- Progressive cerebellar ataxia affecting balance and coordination
- Absent or diminished deep tendon reflexes (areflexia)
- High-arched feet (pes cavus) development
- Gradual vision loss due to optic nerve damage
- Progressive hearing impairment
- Family history of similar neurological symptoms
- Unexplained neurological deterioration in childhood or adulthood
Benefits of Taking the ATP1A3 Genetic Test
Early genetic diagnosis through our comprehensive testing provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out CAPOS syndrome with high precision
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and family planning decisions
- Proactive Management: Allows early intervention and symptom management strategies
- Peace of Mind: Reduces diagnostic uncertainty and provides clear answers
- Research Contribution: Helps advance understanding of neurological genetic disorders
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information:
- Positive Result: Indicates the presence of a pathogenic ATP1A3 gene mutation associated with CAPOS syndrome. Our genetic counselors will provide detailed guidance on next steps and management strategies.
- Negative Result: Suggests that no known pathogenic mutations were detected in the ATP1A3 gene. However, clinical correlation with symptoms remains important.
- Variant of Uncertain Significance: Some genetic changes may require additional clinical correlation and family studies for proper interpretation.
Test Pricing and Information
| Test Component | Price (USD) |
|---|---|
| ATP1A3 Gene CAPOS Syndrome NGS Genetic DNA Test – Discount Price | $500 |
| ATP1A3 Gene CAPOS Syndrome NGS Genetic DNA Test – Regular Price | $700 |
Test Details
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Methodology: Next-Generation Sequencing (NGS) Technology
- Specialty: Neurology and Genetics
Pre-Test Requirements
To ensure optimal testing accuracy, we require:
- Complete clinical history of the patient
- Genetic counseling session to create a detailed family pedigree
- Documentation of neurological symptoms and progression
- Informed consent for genetic testing
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, and many other cities. Our network of certified genetic counselors and neurological specialists ensures comprehensive care throughout your testing journey.
Take Control of Your Neurological Health Today
Don’t let uncertainty about neurological symptoms affect your quality of life. Our ATP1A3 Gene CAPOS Syndrome NGS Genetic DNA Test provides the clarity you need for informed healthcare decisions. With our discounted price of $500 USD and comprehensive genetic analysis, you can take the first step toward understanding your neurological health.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our dedicated team is ready to assist you with compassionate, professional care and support throughout your diagnostic journey.
