SLC2A2 Gene Fanconi-Bickel Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Metabolic Disorders
The SLC2A2 Gene Fanconi-Bickel Syndrome NGS Genetic DNA Test represents a breakthrough in precision medicine for diagnosing rare metabolic disorders. This advanced diagnostic tool specifically targets mutations in the SLC2A2 gene, which encodes the glucose transporter protein GLUT2. When this gene malfunctions, it leads to Fanconi-Bickel syndrome—a complex autosomal recessive disorder affecting multiple organ systems and disrupting normal glucose and galactose metabolism.
What This Test Measures and Detects
Our state-of-the-art NGS technology provides comprehensive analysis of the SLC2A2 gene to identify:
- Pathogenic variants and mutations in the SLC2A2 gene
- Single nucleotide polymorphisms (SNPs) associated with Fanconi-Bickel syndrome
- Insertions, deletions, and copy number variations
- Compound heterozygous mutations affecting glucose transport
- Genetic markers for autosomal recessive inheritance patterns
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with:
- Persistent hepatomegaly (enlarged liver) and glycogen storage
- Growth retardation and failure to thrive in childhood
- Clinical signs of rickets and bone deformities
- Renal tubular dysfunction with glucosuria and phosphaturia
- Family history of Fanconi-Bickel syndrome or consanguineous parents
- Unexplained metabolic acidosis and electrolyte imbalances
- Delayed motor development and muscle weakness
Key Benefits of Genetic Testing
Early diagnosis through our SLC2A2 genetic test provides numerous advantages:
- Accurate Diagnosis: Confirms Fanconi-Bickel syndrome with 99% accuracy
- Personalized Treatment: Enables targeted management strategies
- Family Planning: Provides crucial information for genetic counseling
- Early Intervention: Allows prompt implementation of dietary modifications
- Comprehensive Care: Guides multidisciplinary treatment approaches
- Peace of Mind: Reduces diagnostic uncertainty for families
Understanding Your Test Results
Our comprehensive genetic report includes:
- Positive Result: Identifies pathogenic mutations confirming Fanconi-Bickel syndrome diagnosis
- Negative Result: No detected mutations in SLC2A2 gene, suggesting alternative diagnoses
- Variant of Uncertain Significance: Requires additional clinical correlation
- Carrier Status: Identifies individuals with single mutation copies
All results are accompanied by detailed interpretation from our certified genetic counselors, who provide personalized guidance on next steps and management strategies.
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | SLC2A2 Gene Fanconi-Bickel Syndrome NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Testing Availability
We have conveniently located branches across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and many more. Our network ensures accessible genetic testing services for patients nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about metabolic disorders affect your quality of life. Our SLC2A2 Gene Fanconi-Bickel Syndrome NGS Genetic DNA Test provides the clarity you need for proper diagnosis and management. With our limited-time discount price of $500 USD (regularly $700 USD), now is the perfect opportunity to invest in your genetic health.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our certified genetic specialists are available to answer your questions and guide you through the testing process.
Early detection through advanced genetic testing can make a significant difference in managing Fanconi-Bickel syndrome and improving long-term outcomes. Trust our expertise in metabolic genetics to provide you with accurate, reliable results and comprehensive support throughout your diagnostic journey.
