SLC52A3 Gene FazioLonde Disease NGS Genetic DNA Test
Comprehensive Genetic Testing for Neurological Disorders
The SLC52A3 Gene FazioLonde Disease NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise detection capabilities for individuals at risk of developing FazioLonde disease. This progressive neurological condition affects the brainstem and cranial nerves, leading to significant motor function impairment. Our advanced testing methodology provides crucial insights that can transform patient care and management strategies.
What Does This Test Measure?
This sophisticated genetic analysis specifically targets the SLC52A3 gene, which encodes riboflavin transporter 2 (RFVT2). Mutations in this gene disrupt riboflavin (vitamin B2) transport to neural tissues, causing progressive neurological deterioration. The test employs Next-Generation Sequencing technology to:
- Identify pathogenic variants in the SLC52A3 gene
- Detect both inherited and de novo mutations
- Analyze coding regions and splice sites comprehensively
- Provide detailed variant classification according to ACMG guidelines
Who Should Consider This Test?
This genetic test is particularly recommended for individuals presenting with:
- Progressive bulbar palsy symptoms including facial weakness
- Difficulty swallowing (dysphagia) and speech impairment
- Facial and tongue muscle weakness progressing to paralysis
- Family history of similar neurological symptoms
- Unexplained cranial nerve dysfunction
- Suspected riboflavin transporter deficiency disorders
- Children or young adults with progressive neurological decline
Clinical Benefits of Genetic Testing
Early genetic diagnosis through the SLC52A3 test provides numerous advantages:
- Early Intervention: Enables prompt riboflavin supplementation therapy
- Accurate Diagnosis: Differentiates from other neurological conditions
- Family Planning: Provides crucial information for genetic counseling
- Personalized Treatment: Guides targeted therapeutic approaches
- Prognostic Information: Helps predict disease progression
- Research Contribution: Advances understanding of rare neurological disorders
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation and clinical guidance:
- Positive Result: Indicates presence of pathogenic SLC52A3 mutation, confirming FazioLonde disease diagnosis
- Negative Result: Suggests alternative diagnoses should be considered
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals at risk of passing mutations to offspring
All results are accompanied by genetic counseling recommendations and clinical management guidelines.
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| SLC52A3 Gene FazioLonde Disease NGS Genetic DNA Test – Discount Price | $500 |
| SLC52A3 Gene FazioLonde Disease NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
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, and San Jose. Our state-of-the-art laboratories ensure consistent, reliable results 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 the answers you need for proper diagnosis and treatment. Our experienced genetic counselors are available to discuss your concerns and guide you through the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your SLC52A3 Gene FazioLonde Disease NGS Genetic DNA Test and take the first step toward understanding your genetic health.
With a turnaround time of 3-4 weeks and multiple sample collection options including blood, extracted DNA, or blood spots on FTA cards, we make genetic testing accessible and convenient for everyone. Trust our expertise in neurological genetics to provide the comprehensive answers you deserve.
