SLC3A1 Gene Cystinuria NGS Genetic DNA Test
Comprehensive Genetic Analysis for Cystinuria Detection
The SLC3A1 Gene Cystinuria NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with cystinuria, an inherited metabolic disorder characterized by impaired renal tubular reabsorption of cystine and other dibasic amino acids. This condition leads to the formation of cystine stones in the kidneys, ureters, and bladder, causing significant morbidity and potential renal damage if left undiagnosed.
What Does This Test Measure?
This advanced genetic test utilizes Next Generation Sequencing (NGS) technology to comprehensively analyze the SLC3A1 gene, which encodes the rBAT protein – a crucial component of the heteromeric amino acid transporter responsible for cystine reabsorption in renal proximal tubules and intestinal epithelial cells. The test detects:
- Point mutations, insertions, and deletions in the SLC3A1 gene
- Pathogenic variants affecting amino acid transport function
- Genetic markers associated with type I cystinuria
- Inheritance patterns for genetic counseling purposes
Who Should Consider This Test?
This genetic test is particularly recommended for individuals presenting with:
- Recurrent kidney stones, especially in childhood or adolescence
- Family history of cystinuria or kidney stone disease
- Hexagonal crystals in urine microscopic examination
- Unexplained renal colic or urinary tract obstructions
- Positive cyanide-nitroprusside test results
- Planning for pregnancy with known family history of cystinuria
Clinical Benefits of Genetic Testing
Early genetic identification through the SLC3A1 Gene Cystinuria NGS Test provides numerous clinical advantages:
- Enables proactive management strategies to prevent stone formation
- Facilitates personalized treatment plans including dietary modifications
- Provides accurate genetic counseling for family planning decisions
- Helps prevent progressive renal damage and complications
- Allows for early intervention in pediatric cases
- Reduces healthcare costs associated with recurrent stone episodes
Understanding Your Test Results
Your genetic test report will provide comprehensive information about detected variants in the SLC3A1 gene. Results are typically categorized as:
- Positive for Pathogenic Variants: Indicates confirmed genetic diagnosis of cystinuria requiring specialized management
- Negative for Known Pathogenic Variants: Suggests alternative causes for symptoms should be investigated
- Variants of Uncertain Significance: Requires additional clinical correlation and possibly family studies
All results should be interpreted in consultation with a qualified genetic counselor or healthcare provider who can explain the implications for your health and family members.
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| SLC3A1 Gene Cystinuria NGS Genetic DNA Test – Discount Price | $500 |
| SLC3A1 Gene Cystinuria NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
GGC DNA maintains comprehensive testing facilities 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, San Jose, and many other cities. Our state-of-the-art laboratories ensure consistent, reliable results with a standard turnaround time of 3-4 weeks.
Take Control of Your Genetic Health Today
Don’t let uncertainty about your genetic risk for cystinuria compromise your kidney health. Our specialized genetic testing provides the clarity needed for effective prevention and management strategies. Our experienced genetic counselors are available to discuss your results and develop personalized care plans.
Ready to schedule your SLC3A1 Gene Cystinuria NGS Genetic DNA Test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic profile and protecting your renal health for years to come.
