SCA3 Spinocerebellar Ataxia ATXN3 Gene Mutation Test
Understanding SCA3 Spinocerebellar Ataxia
Spinocerebellar Ataxia Type 3 (SCA3), also known as Machado-Joseph Disease, is a progressive neurological disorder that affects coordination, balance, and motor control. This hereditary condition results from a specific genetic mutation in the ATXN3 gene located on chromosome 14q32.1. The SCA3 Spinocerebellar Ataxia ATXN3 Gene Mutation Test provides crucial diagnostic information for individuals experiencing neurological symptoms or those with a family history of ataxia disorders.
What This Test Measures
The SCA3 genetic test specifically detects abnormal expansions of CAG trinucleotide repeats within the ATXN3 gene. In healthy individuals, the ATXN3 gene typically contains between 12-44 CAG repeats. However, individuals with SCA3 possess expanded repeats ranging from 55-86, which leads to the production of abnormal ataxin-3 protein that accumulates in nerve cells, particularly affecting the cerebellum and brainstem.
- Detects CAG trinucleotide repeat expansions in ATXN3 gene
- Identifies abnormal repeat lengths associated with SCA3
- Provides precise molecular diagnosis for ataxia symptoms
- Helps differentiate SCA3 from other neurological conditions
Who Should Consider This Test?
This genetic test is particularly important for individuals displaying symptoms of cerebellar ataxia or those with a family history of neurological disorders. Consider testing if you experience:
- Progressive coordination difficulties and balance problems
- Unsteady gait and frequent stumbling
- Slurred speech and swallowing difficulties
- Muscle stiffness, spasms, or twitching
- Eye movement abnormalities and double vision
- Family history of ataxia or similar neurological conditions
- Unexplained progressive neurological symptoms
Clinical Indications for Testing
Neurologists typically recommend this test when patients present with progressive cerebellar symptoms, especially when there’s a known family history of autosomal dominant ataxia. The test is also valuable for confirming diagnosis in symptomatic individuals and providing genetic counseling for at-risk family members.
Benefits of SCA3 Genetic Testing
Undergoing the SCA3 ATXN3 Gene Mutation Test offers numerous advantages for patients and their families:
- Accurate Diagnosis: Provides definitive molecular confirmation of SCA3, eliminating diagnostic uncertainty
- Early Intervention: Enables proactive management strategies before significant neurological decline
- Family Planning: Informs reproductive decisions and genetic counseling for at-risk individuals
- Symptom Management: Guides targeted treatment approaches and rehabilitation strategies
- Clinical Trial Eligibility: May qualify patients for emerging therapies and research studies
- Psychological Relief: Reduces anxiety associated with unknown neurological symptoms
Understanding Your Test Results
Your SCA3 genetic test results will fall into one of several categories, each with specific implications:
Normal Results
Normal ATXN3 gene with CAG repeats in the 12-44 range indicates you do not carry the SCA3 mutation. This result typically excludes SCA3 as the cause of neurological symptoms, though other forms of ataxia may still need consideration.
Abnormal Results
Expanded CAG repeats (55-86) confirm the diagnosis of SCA3. The specific repeat length may correlate with disease severity and age of onset, though individual variability exists. Genetic counseling is strongly recommended for comprehensive result interpretation.
Intermediate Range
Some individuals may show repeats in the 45-54 range, which represents an intermediate or reduced penetrance allele. These individuals may not develop symptoms but could pass expanded repeats to offspring.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | SCA3 Spinocerebellar Ataxia ATXN3 Gene Mutation Test |
| Regular Price | $188 USD |
| Discount Price | $100 USD |
| Turnaround Time | Sample Tuesday by 11 AM; Report 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) |
| Testing Method | PCR, Fragment Analysis |
| Specialty | Neurology / Molecular Diagnostics |
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, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and many other cities. Our network ensures accessible genetic testing services regardless of your location.
Take Control of Your Neurological Health
Don’t let uncertainty about neurological symptoms affect your quality of life. The SCA3 Spinocerebellar Ataxia ATXN3 Gene Mutation Test provides the clarity needed for proper diagnosis and management. Our experienced team of genetic counselors and neurologists are available to discuss your results and next steps.
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 neurological health with our comprehensive genetic testing services.
