ATXN2 Gene Spinocerebellar Ataxia Type 2 Autosomal Dominant NGS Genetic DNA Test
Understanding ATXN2 Gene Spinocerebellar Ataxia Type 2
Spinocerebellar ataxia type 2 (SCA2) is a progressive neurological disorder characterized by the degeneration of specific brain regions, particularly the cerebellum and brainstem. This autosomal dominant condition results from mutations in the ATXN2 gene located on chromosome 12q24. The ATXN2 Gene Spinocerebellar Ataxia Type 2 NGS Genetic DNA Test represents a breakthrough in neurological genetic testing, providing comprehensive analysis of this critical gene using advanced Next Generation Sequencing technology.
What Does This Test Measure?
This sophisticated genetic test specifically targets the ATXN2 gene to detect CAG trinucleotide repeat expansions, which are the primary genetic cause of SCA2. The test provides:
- Precise measurement of CAG repeat length in the ATXN2 gene
- Identification of expanded alleles beyond the normal range
- Detection of intermediate alleles that may indicate carrier status
- Comprehensive analysis of the entire ATXN2 gene coding region
- Accurate differentiation between normal, premutation, and pathogenic repeat lengths
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is recommended for individuals experiencing neurological symptoms or with family history suggestive of spinocerebellar ataxia:
- Progressive gait disturbances and balance problems
- Coordination difficulties affecting daily activities
- Speech abnormalities (dysarthria)
- Eye movement disorders including slow saccades
- Tremors and involuntary movements
- Muscle stiffness and spasticity
- Cognitive changes and executive function impairment
- Family history of ataxia or unexplained neurological disorders
Benefits of ATXN2 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and their families:
- Accurate Diagnosis: Confirms or rules out SCA2 with high precision
- Early Intervention: Enables timely management strategies
- Family Planning: Provides crucial information for reproductive decisions
- Prognostic Information: Helps predict disease progression and severity
- Treatment Guidance: Informs appropriate therapeutic approaches
- Genetic Counseling: Supports informed family discussions about inheritance patterns
Understanding Your Test Results
Interpretation Guidelines
Your genetic test results will be carefully analyzed and explained by our expert genetic counselors:
- Normal Range: CAG repeats typically range from 14-31, indicating no increased risk for SCA2
- Intermediate Alleles: Repeats between 32-33 may represent reduced penetrance or carrier status
- Pathogenic Expansion: CAG repeats of 34 or greater confirm diagnosis of SCA2
- Anticipation Phenomenon: Successive generations may show earlier onset due to repeat expansion
All results include comprehensive genetic counseling to ensure complete understanding and appropriate next steps.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | ATXN2 Gene Spinocerebellar Ataxia Type 2 Autosomal Dominant 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 |
| Testing Method | Next Generation Sequencing (NGS) Technology |
Pre-Test Requirements
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient
- Genetic counseling session to discuss implications and expectations
- Development of detailed pedigree chart documenting family members affected by neurological symptoms
- Informed consent understanding the potential impact of genetic results
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 many more. Our network of certified genetic testing facilities ensures consistent, high-quality results regardless of your location.
Take Control of Your Neurological Health
Don’t let uncertainty about neurological symptoms affect your quality of life. The ATXN2 Gene Spinocerebellar Ataxia Type 2 NGS Genetic DNA Test provides the clarity needed for informed healthcare decisions. Our team of neurologists and genetic specialists is ready to support you through every step of the testing process.
Ready to schedule your genetic test? Contact our genetic counseling team today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your neurological health with confidence and precision.
