SCA12 Spinocerebellar Ataxia PPP2R2B Gene Mutation Test
Understanding SCA12 Spinocerebellar Ataxia
Spinocerebellar Ataxia Type 12 (SCA12) is a rare, progressive neurological disorder characterized by degeneration of the cerebellum and its connections. This autosomal dominant condition typically manifests in adulthood and progressively impairs coordination, balance, and motor function. The SCA12 Spinocerebellar Ataxia PPP2R2B Gene Mutation Test represents a breakthrough in neurological genetic diagnostics, offering precise identification of the genetic mutation responsible for this debilitating condition.
What Does the SCA12 Test Measure?
This advanced genetic test specifically detects CAG trinucleotide repeat expansions in the PPP2R2B gene located on chromosome 5q32. The test utilizes sophisticated molecular diagnostic techniques including:
- Polymerase Chain Reaction (PCR) amplification
- Fragment analysis for precise repeat sizing
- Detection of abnormal CAG repeat expansions
- Accurate measurement of repeat length variations
Who Should Consider SCA12 Genetic Testing?
Clinical Indications and Symptoms
Individuals experiencing the following symptoms should consider SCA12 testing:
- Progressive loss of coordination and balance
- Difficulty with fine motor skills and handwriting
- Tremors, particularly action tremors
- Slurred speech and dysarthria
- Gait abnormalities and unsteady walking
- Family history of ataxia or neurological disorders
- Cognitive changes including memory impairment
- Onset of symptoms typically between ages 8-55
Benefits of SCA12 Genetic Testing
Early detection through SCA12 testing provides numerous advantages:
- Accurate Diagnosis: Differentiate SCA12 from other ataxia types
- Prognostic Information: Understand disease progression patterns
- Family Planning: Make informed reproductive decisions
- Treatment Planning: Develop targeted management strategies
- Clinical Trial Eligibility: Access to emerging therapies
- Psychological Relief: Resolve diagnostic uncertainty
Understanding Your Test Results
Interpretation Guidelines
Your SCA12 test results will fall into one of these categories:
- Normal Range: CAG repeats within 7-28 range indicate no mutation
- Intermediate Range: 29-32 repeats may require clinical correlation
- Pathogenic Range: 43-78 repeats confirm SCA12 diagnosis
- Reduced Penetrance: 33-42 repeats may show variable expression
All results should be interpreted by a qualified neurologist or genetic counselor who can provide personalized guidance based on your specific clinical presentation and family history.
Test Pricing and Information
| Test Component | Details |
|---|---|
| Test Name | SCA12 Spinocerebellar Ataxia PPP2R2B Gene Mutation Test |
| Discount Price | $100 USD |
| Regular Price | $188 USD |
| Turnaround Time | 10-12 days |
| Sample Type | 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube |
| Test Method | PCR, Fragment Analysis |
| Specialty | Neurology |
Nationwide Testing Availability
GGC DNA provides comprehensive SCA12 testing services across the United States. We have established branches 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 nationwide network ensures convenient access to advanced genetic testing regardless of your location.
Take Control of Your Neurological Health
Don’t let uncertainty about neurological symptoms affect your quality of life. The SCA12 Spinocerebellar Ataxia PPP2R2B Gene Mutation Test provides definitive answers and empowers you to make informed healthcare decisions. Our experienced team of genetic specialists and neurologists are ready to support you through every step of the testing process.
Ready to Schedule Your Test?
Contact our genetic counseling team today to discuss your testing options and schedule your appointment. Call us at +1(267) 388-9828 or book your test online through our secure patient portal. Early detection through genetic testing can significantly impact your treatment journey and quality of life.
