TDP1 Gene Spinocerebellar Ataxia with Axonal Neuropathy Autosomal Recessive NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The TDP1 Gene Spinocerebellar Ataxia with Axonal Neuropathy Autosomal Recessive NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the TDP1 (Tyrosyl-DNA Phosphodiesterase 1) gene, which plays a critical role in DNA repair mechanisms within nerve cells. When this gene malfunctions, it leads to progressive neurological deterioration characterized by coordination problems and peripheral nerve damage.
What Does This Test Measure?
Our comprehensive NGS-based test analyzes the entire TDP1 gene sequence to identify pathogenic variants responsible for:
- Autosomal recessive spinocerebellar ataxia type 1 (SCAN1)
- Axonal neuropathy manifestations
- DNA repair deficiency disorders
- Specific genetic mutations affecting neurological function
The test utilizes cutting-edge Next-Generation Sequencing technology to examine all coding regions, splice sites, and known regulatory elements of the TDP1 gene, ensuring maximum detection sensitivity for both known and novel mutations.
Who Should Consider This Test?
This genetic test is recommended for individuals experiencing:
- Progressive difficulty with coordination and balance (ataxia)
- Muscle weakness or wasting in limbs
- Sensory abnormalities including numbness or tingling
- Family history of similar neurological symptoms
- Unexplained gait disturbances beginning in childhood or early adulthood
- Consanguineous parents or known family history of autosomal recessive disorders
Clinical Benefits of Genetic Testing
Early genetic diagnosis through TDP1 gene testing provides numerous advantages:
- Accurate Diagnosis: Differentiates between various types of ataxia and neuropathy
- Family Planning: Enables informed reproductive decisions for carriers
- Treatment Guidance: Helps neurologists develop targeted management strategies
- Prognostic Information: Provides insight into disease progression expectations
- Research Contribution: Advances understanding of rare neurological conditions
Understanding Your Test Results
Our genetic counseling team provides comprehensive result interpretation:
- Positive Result: Indicates presence of pathogenic TDP1 mutations confirming diagnosis
- Negative Result: Suggests TDP1-related disorder is unlikely, though other genetic causes may exist
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
All results include detailed explanations and recommendations for next steps, including referrals to neurological specialists and genetic counseling services.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | TDP1 Gene Spinocerebellar Ataxia with Axonal Neuropathy Autosomal Recessive NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Specialty | Neurology |
| Department | Genetics |
| Method | NGS Technology |
| Disease Type | Neurological Disorders |
Pre-Test Requirements
Before testing, we recommend:
- Complete clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and their significance
Nationwide Accessibility
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. 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. Early genetic testing can provide clarity and direction for managing complex neurological conditions. Our team of genetic specialists and neurologists are ready to support you through every step of the testing process.
Ready to schedule your genetic test? Contact our genetic counseling team today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your neurological health with confidence and precision.
