COL6A3 Gene DYT27 NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Movement Disorders
The COL6A3 Gene DYT27 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, specifically designed to identify mutations associated with DYT27 dystonia. This advanced testing methodology utilizes Next Generation Sequencing (NGS) technology to provide comprehensive analysis of the COL6A3 gene, which plays a crucial role in collagen VI formation and neurological function.
What Does This Test Measure and Detect?
This specialized genetic test focuses on identifying specific mutations in the COL6A3 gene that are directly linked to DYT27 dystonia, a rare form of inherited movement disorder. The test examines:
- Point mutations and single nucleotide variants in the COL6A3 gene
- Small insertions and deletions affecting gene function
- Genetic variations that disrupt collagen VI assembly
- Pathogenic variants associated with autosomal recessive dystonia
Who Should Consider This Test?
This genetic test is particularly recommended for individuals experiencing:
- Unexplained involuntary muscle contractions and spasms
- Progressive movement disorders beginning in childhood or adolescence
- Family history of dystonia or similar neurological conditions
- Abnormal posturing or twisting movements affecting daily activities
- Diagnostic uncertainty regarding movement disorder symptoms
- Planning for family genetic counseling and reproductive decisions
Key Benefits of COL6A3 Genetic Testing
- Accurate Diagnosis: Provides definitive identification of DYT27 dystonia genetic causes
- Early Intervention: Enables timely treatment planning and management strategies
- Family Planning: Offers valuable information for genetic counseling and reproductive decisions
- Personalized Treatment: Guides targeted therapeutic approaches based on genetic findings
- Prognostic Information: Helps predict disease progression and potential complications
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and neurologists. Results typically fall into three categories:
- Positive Result: Indicates the presence of known pathogenic mutations in the COL6A3 gene, confirming DYT27 dystonia diagnosis
- Negative Result: Suggests absence of known disease-causing mutations, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps for medical management.
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly offer the COL6A3 Gene DYT27 NGS Genetic DNA Test across our extensive network of testing facilities throughout the United States. Our state-of-the-art laboratories are conveniently located in major metropolitan areas including:
- New York City and surrounding regions
- Los Angeles and Southern California
- Chicago and the Midwest
- Houston and Texas metropolitan areas
- Phoenix and Arizona regions
- And many additional locations nationwide
Pre-Test Requirements and Instructions
To ensure optimal testing accuracy and comprehensive care, we require:
- Complete clinical history documentation
- Genetic counseling session prior to testing
- Development of detailed family pedigree chart
- Appropriate sample collection (blood, extracted DNA, or FTA card blood spot)
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about neurological symptoms affect your quality of life. Our COL6A3 Gene DYT27 NGS Genetic DNA Test provides the answers you need for proper diagnosis and treatment planning. With results available in just 3-4 weeks and our discounted price of only $500 USD, there’s never been a better time to take control of your neurological health.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic testing appointment or to speak with our genetic counseling team. Our specialists are ready to guide you through every step of the testing process and help you understand your genetic health.
