ATN1 Gene Dentatorubral-Pallidoluysian Atrophy NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The ATN1 Gene Dentatorubral-Pallidoluysian Atrophy (DRPLA) NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced testing methodology provides crucial insights into one of the rarest inherited neurodegenerative disorders affecting the central nervous system. Dentatorubral-pallidoluysian atrophy is characterized by progressive degeneration of specific brain regions, including the dentate nucleus, red nucleus, globus pallidus, and subthalamic nucleus, leading to complex neurological symptoms that typically manifest in adulthood.
What This Test Measures and Detects
Our state-of-the-art NGS genetic testing specifically targets the ATN1 (Atrophin-1) gene located on chromosome 12p13.31. The test identifies:
- CAG trinucleotide repeat expansions in the ATN1 gene
- Pathogenic mutations associated with DRPLA development
- Genetic variations that correlate with disease severity and progression
- Inheritance patterns for family genetic counseling
- Specific mutation types that influence clinical presentation
Advanced NGS Technology for Precision Diagnosis
Utilizing cutting-edge Next-Generation Sequencing technology, this test provides comprehensive analysis of the ATN1 gene with exceptional accuracy and sensitivity. Our NGS approach enables simultaneous detection of multiple genetic variants, ensuring thorough assessment of potential disease-causing mutations that traditional methods might miss.
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals experiencing:
- Progressive ataxia and coordination difficulties
- Involuntary movements including chorea and myoclonus
- Cognitive decline or dementia symptoms
- Epileptic seizures or movement disorders
- Family history of neurological degenerative conditions
- Unexplained progressive neurological symptoms
- Patients with suspected inherited ataxias
Family History Considerations
Individuals with known family members diagnosed with DRPLA or similar neurodegenerative disorders should strongly consider genetic testing. Early identification of ATN1 gene mutations can facilitate proactive management and inform reproductive decisions.
Significant Benefits of ATN1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out DRPLA with high precision
- Early Intervention: Enables timely treatment strategies before significant neurological damage
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Care: Guides neurologists in developing targeted treatment approaches
- Prognostic Insights: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare neurological disorders
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your ATN1 gene analysis:
Normal Results
Normal CAG repeat lengths (typically 6-35 repeats) indicate no increased risk for developing DRPLA. However, clinical correlation with symptoms remains essential, as other neurological conditions may present similarly.
Abnormal Results
Expanded CAG repeats (usually 49-88 repeats) confirm DRPLA diagnosis. The specific repeat number may correlate with:
- Age of symptom onset
- Disease progression rate
- Clinical symptom severity
- Anticipation patterns in family inheritance
Genetic Counseling Recommendations
All positive results warrant comprehensive genetic counseling to discuss:
- Implications for family members
- Reproductive options and risk assessment
- Long-term management strategies
- Support resources and specialized care
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- 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 Preparation Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation
- Genetic counseling session prior to testing
- Detailed pedigree chart of affected family members
- Neurological evaluation and symptom assessment
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and numerous other cities. Our network of certified collection facilities ensures accessible testing regardless of your location.
Take Control of Your Neurological Health Today
Early genetic testing for ATN1 gene mutations can provide life-changing insights into neurological health and family planning. Our specialized team of genetic counselors and neurologists are ready to support you through every step of the testing process.
Book your ATN1 Gene Dentatorubral-Pallidoluysian Atrophy NGS Genetic DNA Test today by calling our dedicated genetic testing line at +1(267) 388-9828 or schedule your appointment online. Take the first step toward understanding your genetic health and securing your neurological future.
