SCA5 Spinocerebellar Ataxia SPTBN2 Gene Mutation Test
Understanding SCA5 Spinocerebellar Ataxia
Spinocerebellar Ataxia Type 5 (SCA5) is a rare, inherited neurological disorder that affects coordination and movement. This progressive condition results from specific mutations in the SPTBN2 gene, which plays a crucial role in maintaining proper neurological function. The SCA5 Spinocerebellar Ataxia SPTBN2 Gene Mutation Test provides definitive genetic confirmation for individuals suspected of having or carrying this hereditary condition.
What Does the Test Measure?
This advanced molecular diagnostic test specifically analyzes the SPTBN2 gene for mutations associated with Spinocerebellar Ataxia Type 5. Through sophisticated PCR and sequencing technologies, our laboratory examines:
- Complete SPTBN2 gene sequencing for point mutations
- Detection of specific genetic variations linked to SCA5
- Identification of inherited patterns within families
- Comprehensive analysis of neurological genetic markers
Who Should Consider This Test?
Symptoms and Risk Factors
Individuals experiencing the following symptoms should consider the SCA5 genetic test:
- Progressive coordination difficulties and balance problems
- Unsteady gait and frequent stumbling
- Speech difficulties or slurred speech patterns
- Fine motor skill impairment
- Family history of neurological disorders
- Early-onset movement disorders
- Unexplained tremors or muscle control issues
Benefits of SCA5 Genetic Testing
Early detection through genetic testing offers numerous advantages:
- Early Intervention: Enables proactive management strategies before significant symptoms develop
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Accurate Diagnosis: Eliminates diagnostic uncertainty and prevents misdiagnosis
- Personalized Care: Allows for tailored treatment approaches based on genetic findings
- Peace of Mind: Reduces anxiety through definitive answers about genetic status
Understanding Your Test Results
Your genetic test results will fall into one of several categories:
- Positive Result: Indicates the presence of SPTBN2 gene mutation associated with SCA5. This confirms the diagnosis and enables appropriate medical management.
- Negative Result: No SPTBN2 mutations detected, significantly reducing the likelihood of SCA5 development.
- Variant of Uncertain Significance: Rare genetic variations requiring further clinical correlation and possibly additional family testing.
All results are accompanied by comprehensive interpretation from our expert genetic counselors and neurologists.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | SCA5 Spinocerebellar Ataxia SPTBN2 Gene Mutation Test |
| Discount Price | $188 USD |
| Regular Price | $376 USD |
| Turnaround Time | Sample by Tuesday 11 AM; Report by Saturday |
| Sample Type | 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube |
| Shipping Instructions | Ship refrigerated. DO NOT FREEZE |
| Required Documentation | Duly filled Genomics Clinical Information Requisition Form (Form 20) |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients 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 ensures accessible genetic testing services regardless of your location.
Take Control of Your Neurological Health
Don’t let uncertainty about hereditary neurological conditions affect your quality of life. The SCA5 Spinocerebellar Ataxia SPTBN2 Gene Mutation Test provides the clarity you need to make informed healthcare decisions. Our team of expert neurologists and genetic counselors are available to guide you through the testing process and help interpret your results.
Ready to schedule your test? Contact us 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.
