SLC7A7 Gene Lysinuric Protein Intolerance NGS Genetic DNA Test
Comprehensive Genetic Testing for Rare Metabolic Disorders
The SLC7A7 Gene Lysinuric Protein Intolerance NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare inherited metabolic conditions. This advanced genetic analysis specifically targets the SLC7A7 gene, which encodes the y+L amino acid transporter 1 protein essential for proper amino acid metabolism. Lysinuric protein intolerance (LPI) is a serious autosomal recessive disorder that can lead to multi-organ complications if left undiagnosed and untreated.
What This Test Measures and Detects
Our NGS-based genetic test provides comprehensive analysis of the SLC7A7 gene to identify pathogenic variants responsible for lysinuric protein intolerance. The test specifically detects:
- Point mutations, deletions, and insertions in the SLC7A7 gene
- Autosomal recessive inheritance patterns
- Genetic variants affecting dibasic amino acid transport
- Mutations that disrupt the y+LAT-1 protein function
- Genetic markers associated with hepatic, renal, and pulmonary complications
Who Should Consider This Genetic Test
This comprehensive genetic evaluation is recommended for individuals presenting with:
- Unexplained hepatomegaly or liver dysfunction
- Renal tubular dysfunction or proteinuria
- Growth retardation and failure to thrive in children
- Recurrent episodes of hyperammonemia
- Pulmonary alveolar proteinosis symptoms
- Family history of metabolic disorders or consanguinity
- Unexplained osteoporosis or bone marrow abnormalities
- Gastrointestinal symptoms following protein-rich meals
Clinical Benefits of Early Detection
Early genetic diagnosis through our SLC7A7 test provides numerous clinical advantages:
- Enables timely dietary interventions and protein restriction
- Prevents life-threatening hyperammonemic crises
- Facilitates appropriate management of hepatic and renal complications
- Supports personalized treatment planning for multi-system involvement
- Provides crucial information for family planning and genetic counseling
- Reduces diagnostic uncertainty and unnecessary medical procedures
- Improves long-term prognosis and quality of life
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Indicates the presence of pathogenic variants in the SLC7A7 gene, confirming lysinuric protein intolerance diagnosis
- Negative Result: No disease-causing mutations detected, though clinical correlation is recommended
- Variant of Uncertain Significance: Requires additional family studies and clinical evaluation
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
Test Pricing Information
| Test Name | Discount Price | Regular Price |
|---|---|---|
| SLC7A7 Gene Lysinuric Protein Intolerance NGS Genetic DNA Test | $500 USD | $700 USD |
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, San Jose, and many more cities. 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 disorders affect your health and quality of life. Our SLC7A7 Gene Lysinuric Protein Intolerance NGS Genetic DNA Test provides the clarity you need for informed medical decisions. 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.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our expert genetic counselors are ready to guide you through the testing process and help you understand your results.
