PPP2R2B Gene Spinocerebellar Ataxia Type 12 Autosomal Dominant NGS Genetic DNA Test
Understanding Spinocerebellar Ataxia Type 12 Genetic Testing
Spinocerebellar Ataxia Type 12 (SCA12) represents a significant neurological condition characterized by progressive degeneration of the cerebellum and its connections. The PPP2R2B Gene Spinocerebellar Ataxia Type 12 Autosomal Dominant NGS Genetic DNA Test serves as a critical diagnostic tool for identifying individuals at risk for this inherited disorder. This advanced genetic screening utilizes Next-Generation Sequencing (NGS) technology to detect specific mutations in the PPP2R2B gene, providing essential information for clinical management and family planning.
What This Test Measures and Detects
Our comprehensive genetic analysis specifically targets the PPP2R2B gene located on chromosome 5q32. The test identifies:
- CAG repeat expansions in the 5′ untranslated region of PPP2R2B gene
- Pathogenic repeat lengths typically ranging from 55 to 78 CAG repeats
- Autosomal dominant inheritance pattern confirmation
- Genetic markers associated with progressive cerebellar dysfunction
Advanced NGS Technology
Utilizing state-of-the-art Next-Generation Sequencing, our test provides unparalleled accuracy in detecting PPP2R2B gene mutations. This technology enables comprehensive analysis of genetic variations with high sensitivity and specificity, ensuring reliable results for clinical decision-making.
Who Should Consider This Genetic Test
This test is particularly recommended for individuals experiencing:
- Progressive coordination difficulties and balance problems
- Action tremors affecting daily activities
- Family history of cerebellar ataxia or movement disorders
- Early-onset gait abnormalities in adulthood
- Cognitive changes with cerebellar symptoms
- Unexplained neurological symptoms with autosomal dominant family pattern
Clinical Indications
Patients presenting with symptoms typically beginning in their 30s or 40s, including tremor as the initial manifestation followed by ataxia, should strongly consider genetic testing. Early diagnosis can significantly impact treatment planning and quality of life.
Benefits of PPP2R2B Genetic Testing
- Early Diagnosis: Enables timely intervention and management strategies
- Family Planning: Provides crucial information for reproductive decisions
- Treatment Guidance: Helps neurologists develop targeted care plans
- Symptom Management: Facilitates proactive approach to symptom control
- Genetic Counseling: Supports informed decision-making for at-risk family members
- Research Contribution: Advances understanding of SCA12 and related disorders
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your PPP2R2B gene analysis:
Positive Result Interpretation
A positive result indicates the presence of pathogenic CAG repeat expansion in the PPP2R2B gene, confirming Spinocerebellar Ataxia Type 12 diagnosis. This result typically shows:
- CAG repeat count exceeding normal range (usually >55 repeats)
- Confirmed autosomal dominant inheritance pattern
- Clinical correlation with neurological symptoms
Negative Result Interpretation
A negative result indicates absence of pathogenic PPP2R2B mutations, suggesting symptoms may stem from other neurological conditions requiring further investigation.
Inconclusive Results
In rare cases, results may require additional analysis or clinical correlation. Our genetic counselors provide comprehensive support for result interpretation.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Pre-Test Requirements
Before scheduling your PPP2R2B genetic test, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session with our specialists
- Development of detailed family pedigree chart
- Neurological evaluation when indicated
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified genetic testing facilities ensures consistent quality and reliable results nationwide.
Take Control of Your Neurological Health
Early genetic testing for Spinocerebellar Ataxia Type 12 can provide life-changing insights into your neurological health. Our PPP2R2B gene test offers the precision and reliability needed for confident diagnosis and informed healthcare decisions.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and securing your neurological future.
