TOR1A Gene DYT1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Early-Onset Dystonia
The TOR1A Gene DYT1 NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of mutations responsible for DYT1 dystonia. This advanced testing methodology utilizes Next-Generation Sequencing technology to analyze the TOR1A gene with exceptional accuracy and reliability, providing crucial insights for patients and healthcare providers managing movement disorders.
What Does the TOR1A Gene DYT1 Test Measure?
This specialized genetic test specifically targets the TOR1A gene, which encodes the torsinA protein essential for normal neurological function. The test identifies:
- Pathogenic mutations in the TOR1A gene associated with DYT1 dystonia
- Specific genetic variants including the common GAG deletion
- Rare mutations that may cause atypical presentations
- Genetic markers that help predict disease progression and severity
Who Should Consider TOR1A Genetic Testing?
This test is particularly recommended for individuals experiencing:
- Early-onset involuntary muscle contractions (typically before age 26)
- Abnormal posturing of limbs, neck, or trunk
- Family history of dystonia or movement disorders
- Unexplained muscle spasms that worsen with movement
- Symptoms beginning in childhood or adolescence
- Progressive movement difficulties affecting daily activities
Key Benefits of TOR1A Genetic Testing
- Accurate Diagnosis: Provides definitive genetic confirmation of DYT1 dystonia
- Early Intervention: Enables timely treatment planning and management strategies
- Family Planning: Offers genetic counseling information for reproductive decisions
- Treatment Guidance: Helps neurologists develop targeted therapeutic approaches
- Prognostic Insights: Assists in predicting disease course and potential complications
- Genetic Counseling: Supports comprehensive family risk assessment
Understanding Your Test Results
Your TOR1A genetic test results will be carefully interpreted by our expert genetic counselors and neurologists:
- Positive Result: Indicates the presence of a TOR1A mutation associated with DYT1 dystonia, confirming the diagnosis and enabling appropriate management
- Negative Result: Suggests that DYT1 dystonia is unlikely, though other forms of dystonia may still be considered
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation and possibly additional family testing
All results include comprehensive genetic counseling to ensure proper understanding and next steps.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | TOR1A Gene DYT1 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 |
| Methodology | Next-Generation Sequencing (NGS) Technology |
| Specialty | Neurology and Genetics |
Pre-Test Requirements
Before scheduling your TOR1A genetic test, we require:
- Complete clinical history of the patient
- Genetic counseling session to discuss testing implications
- Development of a pedigree chart documenting family members affected by movement disorders
- Informed consent process explaining test benefits and limitations
Nationwide Testing Availability
We have convenient testing locations across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic counselors and neurologists ensures you receive comprehensive care regardless of your location.
Take Control of Your Neurological Health Today
Don’t let uncertainty about movement symptoms affect your quality of life. The TOR1A Gene DYT1 NGS Genetic DNA Test provides the clarity needed for proper diagnosis and treatment planning. Our team of genetic specialists and neurologists is ready to guide you through the testing process with compassion and expertise.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your TOR1A genetic test. Take the first step toward understanding your neurological health and accessing appropriate care.
