SLC52A3 Gene Brown-Vialetto-Van Laere Syndrome 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Progressive Neurological Disorders
The SLC52A3 Gene Brown-Vialetto-Van Laere Syndrome 1 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare neurological conditions. This advanced genetic screening utilizes next-generation sequencing (NGS) technology to identify mutations in the SLC52A3 gene, which encodes a riboflavin transporter protein crucial for cellular energy metabolism and neurological function.
What This Test Measures and Detects
Our comprehensive NGS analysis specifically targets the SLC52A3 gene to identify:
- Pathogenic variants affecting riboflavin transport mechanisms
- Missense, nonsense, and frameshift mutations
- Copy number variations and structural rearrangements
- Novel genetic variants with potential clinical significance
- Inheritance patterns for genetic counseling purposes
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with:
- Progressive sensorineural hearing loss beginning in childhood or adolescence
- Cranial nerve involvement including facial weakness and swallowing difficulties
- Respiratory complications and breathing abnormalities
- Family history of Brown-Vialetto-Van Laere syndrome or similar neurological disorders
- Unexplained progressive neurological symptoms affecting multiple systems
- Early-onset bulbar palsy with associated hearing impairment
Clinical Benefits of Early Genetic Diagnosis
Obtaining a precise genetic diagnosis through our SLC52A3 testing provides numerous clinical advantages:
- Targeted Treatment: Confirmed diagnosis enables riboflavin supplementation therapy
- Prognostic Information: Helps predict disease progression and potential complications
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Symptom Management: Guides appropriate interventions for hearing, respiratory, and neurological symptoms
- Research Contribution: Advances understanding of rare neurological disorders
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Identifies pathogenic variants in SLC52A3 gene, confirming diagnosis and enabling targeted treatment
- Negative Result: No disease-causing variants detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation
- Carrier Status: Determines inheritance patterns for family members
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Nationwide Testing Accessibility
We maintain comprehensive testing facilities across the United States, with specialized collection centers in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures convenient access to advanced genetic testing regardless of your location.
Pre-Test Requirements and Genetic Counseling
Prior to testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to discuss testing implications
- Development of detailed family pedigree chart
- Discussion of potential outcomes and their clinical significance
Take Control of Your Neurological Health
Early genetic diagnosis can significantly impact treatment outcomes and quality of life for individuals with Brown-Vialetto-Van Laere syndrome. Our specialized genetic testing provides the clarity needed for informed medical decisions and personalized treatment approaches.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and accessing targeted treatment options.
