SLC19A3 Gene Encephalopathy Thiamine-Responsive NGS Genetic DNA Test
Comprehensive Genetic Analysis for Thiamine-Responsive Neurological Disorders
The SLC19A3 Gene Encephalopathy Thiamine-Responsive NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics. This advanced test specifically targets mutations in the SLC19A3 gene, which encodes a thiamine transporter protein essential for proper brain function and development. When this gene malfunctions, it can lead to severe neurological conditions that often respond dramatically to thiamine (vitamin B1) supplementation.
What This Test Measures and Detects
Our state-of-the-art NGS (Next-Generation Sequencing) technology comprehensively analyzes the SLC19A3 gene to identify:
- Pathogenic variants and mutations in the SLC19A3 gene
- Single nucleotide polymorphisms (SNPs) affecting thiamine transport
- Deletions, insertions, and copy number variations
- Genetic markers associated with thiamine-responsive encephalopathy
- Inheritance patterns for genetic counseling purposes
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals experiencing:
- Unexplained neurological deterioration in infancy or childhood
- Progressive encephalopathy with seizures and developmental regression
- Family history of thiamine-responsive neurological disorders
- Unexplained brain lesions visible on MRI scans
- Developmental delays accompanied by neurological symptoms
- Previous siblings with similar neurological conditions
- Suspected genetic basis for treatment-responsive encephalopathy
Key Benefits of SLC19A3 Genetic Testing
- Early Intervention: Enables timely thiamine supplementation before irreversible neurological damage occurs
- Accurate Diagnosis: Provides definitive genetic confirmation for complex neurological presentations
- Family Planning: Offers crucial information for genetic counseling and family planning decisions
- Personalized Treatment: Guides targeted thiamine therapy based on genetic findings
- Prognostic Insights: Helps predict disease progression and treatment response
- Cost-Effective: Prevents unnecessary diagnostic procedures and hospitalizations
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and neurologists:
- Positive Result: Indicates presence of pathogenic SLC19A3 mutations – immediate thiamine therapy initiation is recommended
- Negative Result: No disease-causing variants detected – alternative diagnoses should be explored
- Variant of Uncertain Significance: Genetic changes with unclear clinical impact – ongoing monitoring and family studies may be advised
- Carrier Status: Identifies individuals who carry one copy of mutated gene but typically don’t show symptoms
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | SLC19A3 Gene Encephalopathy Thiamine-Responsive 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 |
Pre-Test Requirements
To ensure accurate results and comprehensive care, we require:
- Complete clinical history of the patient
- Genetic counseling session with our certified specialists
- Detailed pedigree chart of family members affected with similar neurological conditions
- Neurological evaluation documentation
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 for patients nationwide.
Take Control of Your Neurological Health Today
Don’t let unexplained neurological symptoms go undiagnosed. The SLC19A3 Gene Encephalopathy Thiamine-Responsive NGS Genetic DNA Test provides the clarity needed for effective treatment planning. Early genetic diagnosis can significantly improve outcomes for individuals with thiamine-responsive neurological conditions.
Call +1(267) 388-9828 now to schedule your genetic counseling session and book your test. Our genetic specialists are available to answer your questions and guide you through the testing process. Take the first step toward understanding your genetic neurological health with our comprehensive DNA analysis.
