SLC2A2 Gene Fanconi-Bickel Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Metabolic Disorders
The SLC2A2 Gene Fanconi-Bickel Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic tool designed to identify mutations in the SLC2A2 gene, which encodes the glucose transporter protein GLUT2. This specialized genetic test utilizes next-generation sequencing technology to provide comprehensive analysis of the entire SLC2A2 gene, enabling precise detection of pathogenic variants associated with Fanconi-Bickel syndrome—a rare autosomal recessive metabolic disorder affecting multiple organ systems.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based genetic test specifically targets and analyzes the SLC2A2 gene located on chromosome 3q26.1-q26.3. The test identifies:
- Point mutations, deletions, and insertions in the SLC2A2 gene
- Pathogenic variants affecting glucose transporter GLUT2 function
- Genetic abnormalities causing impaired glucose and galactose transport
- Mutations leading to hepatic glycogen accumulation and renal tubular dysfunction
- Inheritance patterns through autosomal recessive transmission analysis
Who Should Consider This Genetic Test?
This specialized genetic test is recommended for individuals presenting with clinical features suggestive of Fanconi-Bickel syndrome, including:
Clinical Indications and Symptoms
- Infants and children with failure to thrive and growth retardation
- Patients demonstrating hepatomegaly and abdominal distension
- Individuals with renal tubular dysfunction including glucosuria and phosphaturia
- Those experiencing fasting hypoglycemia and postprandial hyperglycemia
- Patients with rickets or osteomalacia due to phosphate wasting
- Individuals with family history of Fanconi-Bickel syndrome
- Cases with unexplained metabolic acidosis and hypokalemia
Significant Benefits of Genetic Testing
Undergoing the SLC2A2 Gene Fanconi-Bickel Syndrome NGS Genetic DNA Test provides numerous clinical advantages:
Diagnostic and Therapeutic Benefits
- Accurate Diagnosis: Provides definitive molecular diagnosis for complex metabolic presentations
- Personalized Treatment: Enables targeted therapeutic interventions based on genetic findings
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Prognostic Insights: Helps predict disease progression and potential complications
- Differential Diagnosis: Distinguishes Fanconi-Bickel syndrome from other metabolic disorders
- Early Intervention: Facilitates timely management to prevent long-term complications
Understanding Your Test Results
Our comprehensive genetic analysis provides detailed insights into your SLC2A2 gene status:
Interpretation Guidelines
- Positive Result: Identifies pathogenic mutations confirming Fanconi-Bickel syndrome diagnosis
- Negative Result: No pathogenic variants detected, suggesting alternative diagnoses
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Detects heterozygous mutations indicating carrier state without disease manifestation
All results are accompanied by detailed genetic counseling to ensure proper understanding and appropriate next steps for medical management.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| SLC2A2 Gene Fanconi-Bickel Syndrome NGS Genetic DNA Test – Discount Price | $500 |
| SLC2A2 Gene Fanconi-Bickel Syndrome NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient locations in all major metropolitan areas 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 Genetic Health Today
Don’t let uncertainty about metabolic symptoms affect your quality of life. Our advanced SLC2A2 Gene Fanconi-Bickel Syndrome NGS Genetic DNA Test provides the clarity needed for proper diagnosis and targeted treatment. With results available in 3-4 weeks and multiple sample collection options including blood, extracted DNA, or FTA card blood spots, getting tested has never been more convenient.
Ready to begin your genetic health journey? Contact our genetic specialists today at +1(267) 388-9828 or schedule your appointment online. Take the first step toward understanding your genetic makeup and optimizing your health outcomes with our comprehensive genetic testing services.
