COASY Gene Neurodegeneration with Brain Iron Accumulation Type 6 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Neurological Health
The COASY Gene Neurodegeneration with Brain Iron Accumulation Type 6 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the COASY gene, which plays a critical role in cellular energy production and iron metabolism within the brain. Neurodegeneration with Brain Iron Accumulation (NBIA) type 6 is a rare, progressive neurological disorder that affects both children and adults, characterized by abnormal iron deposition in specific brain regions leading to significant neurological symptoms.
What This Test Measures and Detects
Our comprehensive NGS genetic test precisely identifies:
- Pathogenic variants in the COASY gene responsible for NBIA type 6
- Single nucleotide polymorphisms (SNPs) affecting enzyme function
- Copy number variations impacting gene expression
- Deletion and duplication events within the COASY gene region
- Compound heterozygous mutations contributing to disease manifestation
Who Should Consider This Genetic Test
This test is particularly recommended for individuals experiencing:
- Progressive movement disorders including dystonia and parkinsonism
- Developmental regression in childhood
- Cognitive decline and intellectual disability
- Spasticity and muscle rigidity
- Visual impairment or optic atrophy
- Family history of neurodegenerative disorders
- Unexplained neurological symptoms with iron accumulation on brain MRI
- Children with delayed motor milestones and progressive neurological deterioration
Key Benefits of COASY Gene Testing
- Early and Accurate Diagnosis: Provides definitive diagnosis for complex neurological presentations
- Personalized Treatment Planning: Enables targeted therapeutic interventions
- Family Planning Guidance: Offers crucial information for genetic counseling and reproductive decisions
- Proactive Health Management: Facilitates early intervention strategies
- Comprehensive Risk Assessment: Identifies carrier status in family members
- Research Contribution: Helps advance understanding of rare neurological disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and neurologists:
- Positive Result: Indicates the presence of pathogenic COASY gene mutations, confirming NBIA type 6 diagnosis
- Negative Result: Suggests absence of known COASY mutations, though other genetic causes may need investigation
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals who may pass the condition to offspring
All results include comprehensive genetic counseling to ensure complete understanding and appropriate next steps.
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have conveniently located branches across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Take Control of Your Neurological Health Today
Don’t let uncertainty about neurological symptoms affect your quality of life. Our COASY Gene Neurodegeneration with Brain Iron Accumulation Type 6 NGS Genetic DNA Test provides the clarity and answers you need for informed healthcare decisions. Our experienced genetic counselors are available to discuss your specific situation and guide you through the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward understanding your neurological health.
