SCA7 Spinocerebellar Ataxia ATXN7 Gene Mutation Test
Understanding SCA7 Genetic Testing
The SCA7 Spinocerebellar Ataxia ATXN7 Gene Mutation Test represents a breakthrough in neurological genetic diagnostics, specifically designed to detect mutations in the ATXN7 gene that cause Spinocerebellar Ataxia Type 7. This inherited neurodegenerative disorder progressively affects the cerebellum and spinal cord, leading to significant coordination difficulties and visual impairment. Early genetic identification through this advanced testing method provides patients and healthcare providers with critical information for proactive management and informed decision-making.
What Does the SCA7 Test Detect?
This specialized genetic test specifically analyzes the ATXN7 gene for abnormal CAG trinucleotide repeat expansions, which are the primary genetic cause of Spinocerebellar Ataxia Type 7. The test utilizes sophisticated PCR and fragment analysis technology to:
- Identify abnormal CAG repeat expansions in the ATXN7 gene
- Determine the exact number of CAG repeats present
- Differentiate between normal, intermediate, and pathogenic repeat lengths
- Provide precise genetic confirmation for SCA7 diagnosis
Who Should Consider SCA7 Genetic Testing?
Clinical Indications and Symptoms
This test is recommended for individuals experiencing neurological symptoms or those with family history suggesting hereditary ataxia:
- Progressive balance and coordination difficulties
- Unsteady gait and frequent stumbling
- Slurred speech and difficulty with articulation
- Vision problems including retinal degeneration
- Family history of spinocerebellar ataxia
- Unexplained neurological symptoms in multiple family members
- Individuals planning pregnancy with known ataxia family history
Benefits of SCA7 Genetic Testing
Undergoing SCA7 genetic testing provides numerous advantages for patients and their families:
- Early Diagnosis: Enables prompt intervention and management strategies
- Family Planning Guidance: Provides crucial information for reproductive decisions
- Treatment Planning: Helps neurologists develop targeted care approaches
- Symptom Management: Facilitates proactive management of anticipated symptoms
- Genetic Counseling: Supports informed family discussions about inheritance patterns
- Clinical Trial Eligibility: May qualify patients for emerging treatments
Understanding Your Test Results
Your SCA7 genetic test results will be carefully interpreted by our expert genetic counselors and neurologists:
- Normal Range: Typically 4-35 CAG repeats indicates no increased risk
- Intermediate Range: 36-41 repeats may suggest potential risk
- Pathogenic Range: 42+ CAG repeats confirms SCA7 diagnosis
- Genetic Counseling: Comprehensive post-test counseling included
- Family Implications: Detailed explanation of inheritance patterns
Test Pricing and Availability
| Test Description | Price (USD) |
|---|---|
| SCA7 Spinocerebellar Ataxia ATXN7 Gene Mutation Test – Discount Price | $100 |
| SCA7 Spinocerebellar Ataxia ATXN7 Gene Mutation Test – Regular Price | $188 |
Nationwide Testing Availability
We proudly offer SCA7 genetic testing services across the United States with convenient 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 cities. Our state-of-the-art molecular diagnostics laboratories ensure consistent, high-quality testing regardless of your location.
Sample Requirements and Processing
Sample Type: 4 mL (2 mL minimum) 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) is mandatory
Turnaround Time: Sample received by Tuesday 11 AM; Report delivered by Saturday
Take Control of Your Neurological Health
Don’t let uncertainty about hereditary neurological conditions affect your quality of life. The SCA7 Spinocerebellar Ataxia ATXN7 Gene Mutation Test provides the clarity and confidence you need to make informed healthcare decisions. Our team of neurological genetics specialists is ready to support you through every step of the testing process.
Book your SCA7 genetic test today by calling our dedicated genetics hotline at +1(267) 388-9828 or schedule your appointment online. Take the first step toward understanding your genetic health and securing your neurological future.
