FMR1 Gene Fragile X Tremor Ataxia Syndrome NGS Genetic DNA Test
Comprehensive Introduction to FMR1 Genetic Testing
The FMR1 Gene Fragile X Tremor Ataxia Syndrome NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets the FMR1 (Fragile X Mental Retardation 1) gene, which plays a critical role in brain development and function. Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurological condition that primarily affects adults, particularly males over 50, who carry a specific genetic variation known as a premutation in the FMR1 gene.
Understanding your genetic predisposition to FXTAS is essential for early intervention and proactive management of potential neurological symptoms. Our state-of-the-art Next-Generation Sequencing technology provides unparalleled accuracy in detecting CGG trinucleotide repeat expansions, offering patients and healthcare providers reliable genetic information for informed medical decisions.
What Does the FMR1 Genetic Test Measure?
This comprehensive DNA test specifically analyzes:
- CGG Trinucleotide Repeat Expansions: Detects the number of CGG repeats in the FMR1 gene, with normal ranges (5-44 repeats), premutation carriers (55-200 repeats), and full mutation carriers (>200 repeats)
- FMR1 Gene Integrity: Assesses the overall structure and function of the FMR1 gene
- Premutation Status: Identifies individuals at risk for developing FXTAS or passing Fragile X syndrome to their children
- Genetic Risk Assessment: Provides comprehensive risk evaluation for neurological manifestations
Who Should Consider FMR1 Genetic Testing?
Clinical Indications and Symptoms
This test is particularly recommended for individuals experiencing:
- Progressive intention tremor (shaking during purposeful movements)
- Gait ataxia (balance and coordination problems)
- Parkinsonism symptoms including rigidity and bradykinesia
- Cognitive decline or executive function impairment
- Peripheral neuropathy with numbness or tingling
- Autonomic dysfunction including dizziness or blood pressure fluctuations
Family History Considerations
- Individuals with family history of Fragile X syndrome
- Those with relatives diagnosed with FXTAS
- Women experiencing premature ovarian insufficiency
- Individuals planning pregnancy with known family history of neurological disorders
Significant Benefits of FMR1 Genetic Testing
Undergoing FMR1 genetic testing provides numerous advantages:
- Early Diagnosis: Enables early detection before significant neurological damage occurs
- Personalized Treatment: Guides targeted therapeutic interventions and management strategies
- Family Planning: Provides crucial information for reproductive decisions and genetic counseling
- Proactive Monitoring: Allows for regular neurological assessments and preventive care
- Peace of Mind: Reduces uncertainty and provides clarity about genetic status
- Research Contribution: Helps advance understanding of FXTAS and related conditions
Understanding Your Test Results
Interpretation Guidelines
Your FMR1 genetic test results will fall into one of several categories:
Normal Results (5-44 CGG Repeats)
Individuals with normal repeat lengths have minimal risk for developing FXTAS and cannot pass Fragile X syndrome to their children. Regular neurological health maintenance is recommended.
Intermediate or Gray Zone (45-54 CGG Repeats)
This range may be associated with slightly increased risk for certain health conditions. Periodic follow-up and genetic counseling are advised.
Premutation Carrier (55-200 CGG Repeats)
Premutation carriers have increased risk for developing FXTAS and may pass expanded mutations to offspring. Comprehensive neurological evaluation and regular monitoring are essential.
Full Mutation (>200 CGG Repeats)
Full mutations are typically associated with Fragile X syndrome. Immediate referral to specialists and comprehensive care planning is necessary.
Post-Test Recommendations
- Schedule follow-up genetic counseling to discuss results in detail
- Consult with a neurologist for comprehensive evaluation
- Develop personalized management plan based on genetic findings
- Consider family member testing when appropriate
- Maintain regular medical follow-up for symptom monitoring
Test Information and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | FMR1 Gene Fragile X Tremor Ataxia Syndrome NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
| Specialty | Neurology and Genetics |
Pre-Test Requirements
To ensure accurate testing and comprehensive care, we require:
- Complete clinical history of the patient
- Genetic counseling session to create detailed family pedigree
- Documentation of family members affected with FMR1-related conditions
- Informed consent for genetic testing
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures easy access to this vital genetic testing service.
Take Control of Your Neurological Health Today
Don’t let uncertainty about your genetic risk for FXTAS compromise your quality of life. Our FMR1 Genetic DNA Test provides the clarity and information you need to make informed healthcare decisions. With our discounted price of $500 USD, advanced NGS technology, and comprehensive genetic counseling support, you’re investing in your long-term neurological health and peace of mind.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
Take the first step toward understanding your genetic health and protecting your neurological future. Book your FMR1 Genetic DNA Test now and join thousands of patients who have found answers through our advanced genetic testing services.
