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Fragile X Tremor Ataxia Syndrome (FXTAS) Test

Original price was: $326.Current price is: $200.

-39%

The Fragile X Tremor Ataxia Syndrome (FXTAS) Test is a specialized genetic screening that identifies mutations in the FMR1 gene responsible for this progressive neurological condition. This comprehensive analysis detects CGG repeat expansions that lead to tremor, coordination problems, and cognitive impairment typically appearing in adults over 50. Early detection through this $200 USD test enables proactive management of symptoms and helps identify family members at risk. Our advanced PCR and fragment analysis technology provides precise results within a rapid turnaround time, supporting neurologists in developing targeted treatment strategies for this complex disorder.

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Fragile X Tremor Ataxia Syndrome (FXTAS) Genetic Test

Comprehensive Introduction to FXTAS Testing

The Fragile X Tremor Ataxia Syndrome (FXTAS) Test represents a breakthrough in neurological genetic diagnostics, offering precise detection of FMR1 gene mutations associated with this progressive neurodegenerative condition. As a leading molecular diagnostic laboratory in the USA, we provide state-of-the-art genetic screening that enables early intervention and personalized treatment planning for patients experiencing neurological symptoms.

FXTAS is a late-onset neurological disorder that primarily affects individuals carrying premutation alleles of the FMR1 gene. This condition manifests through a combination of movement disorders, cognitive decline, and autonomic nervous system dysfunction. Our specialized testing plays a crucial role in differentiating FXTAS from other neurological conditions with similar presentations, ensuring accurate diagnosis and appropriate management strategies.

What the FXTAS Test Measures and Detects

Our advanced FXTAS screening utilizes cutting-edge PCR and fragment analysis technology to precisely measure:

  • FMR1 CGG Repeat Expansions: Detects the specific number of CGG triplet repeats in the FMR1 gene, identifying both premutation (55-200 repeats) and full mutation (>200 repeats) carriers
  • Genetic Risk Assessment: Evaluates the likelihood of developing FXTAS symptoms based on repeat size and family history
  • Carrier Status Determination: Identifies individuals who may pass the premutation to their offspring, potentially leading to Fragile X syndrome in future generations

Technical Specifications

  • Sample Type: 4 mL (2 mL minimum) whole blood from 1 Lavender Top (EDTA) tube
  • Shipping Requirements: Ship refrigerated. DO NOT FREEZE
  • Turnaround Time: Sample received by Monday 11 AM – Report delivered Friday
  • Mandatory Documentation: Duly filled Genomics Clinical Information Requisition Form (Form 20)

Who Should Consider FXTAS Testing

This genetic screening is particularly recommended for individuals experiencing:

  • Progressive Intention Tremor: Shaking that worsens with purposeful movement
  • Cerebellar Ataxia: Balance problems, unsteady gait, and coordination difficulties
  • Cognitive Decline: Memory impairment, executive function deficits, or dementia symptoms
  • Autonomic Dysfunction: Blood pressure fluctuations, bladder control issues, or sexual dysfunction
  • Family History: Relatives with Fragile X syndrome, unexplained neurological conditions, or premature ovarian insufficiency
  • Age Factor: Symptoms typically appearing in individuals over 50 years old

Significant Benefits of FXTAS Genetic Testing

Choosing our comprehensive FXTAS screening provides numerous advantages:

  • Early Diagnosis: Enables prompt intervention before significant neurological damage occurs
  • Accurate Differential Diagnosis: Distinguishes FXTAS from Parkinson’s disease, multiple system atrophy, and other movement disorders
  • Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
  • Personalized Treatment Strategies: Helps neurologists develop targeted symptom management approaches
  • Proactive Monitoring: Establishes baseline measurements for tracking disease progression
  • Research Contribution: Advances understanding of FXTAS and supports development of new therapies

Understanding Your FXTAS Test Results

Our comprehensive report provides clear interpretation of your genetic findings:

  • Normal Range (≤44 repeats): No increased risk for FXTAS development
  • Intermediate/Gray Zone (45-54 repeats): Uncertain clinical significance, regular monitoring recommended
  • Premutation Carrier (55-200 repeats): Increased risk for developing FXTAS and other Fragile X-associated disorders
  • Full Mutation (>200 repeats): Typically associated with Fragile X syndrome rather than FXTAS

All results are accompanied by detailed explanations and recommendations for follow-up care with your neurologist. Our genetic counselors are available to help you understand the implications of your test results and discuss next steps.

FXTAS Test Pricing and Availability

Test Option Price (USD)
Discount Price $200
Regular Price $326

Nationwide Accessibility

We proudly serve patients across the United States with convenient testing 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. Our network of collection centers ensures easy access to this essential neurological genetic testing.

Take Control of Your Neurological Health Today

Don’t let uncertainty about neurological symptoms affect your quality of life. Our FXTAS genetic test provides the clarity needed to make informed healthcare decisions and access appropriate treatment options. With rapid turnaround times and expert genetic counseling support, we’re committed to delivering the highest standard of neurological genetic diagnostics.

Ready to schedule your FXTAS test? Contact our dedicated patient services team at +1(267) 388-9828 or book your appointment online. Our genetic specialists are available to answer your questions and guide you through the testing process.

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