SLC7A5 Gene Phenylketonuria Modifier NGS Genetic DNA Test
Comprehensive Genetic Analysis for Metabolic Health
The SLC7A5 Gene Phenylketonuria Modifier NGS Genetic DNA Test represents a breakthrough in personalized medicine for metabolic disorders. This advanced genetic screening examines the SLC7A5 gene, which encodes the large neutral amino acid transporter LAT1. This transporter plays a critical role in phenylalanine metabolism and significantly influences the clinical presentation and severity of phenylketonuria (PKU). Understanding your genetic profile can transform how metabolic conditions are managed and treated.
What This Test Measures and Detects
Our sophisticated NGS technology provides comprehensive analysis of:
- Complete sequencing of the SLC7A5 gene to identify pathogenic variants
- Detection of single nucleotide polymorphisms (SNPs) affecting phenylalanine transport
- Assessment of genetic modifiers that influence PKU severity
- Identification of variants affecting treatment response and dietary management
- Analysis of amino acid transporter efficiency and function
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This test is recommended for individuals experiencing:
- Diagnosed phenylketonuria with variable symptom severity
- Family history of metabolic disorders or PKU
- Unexplained neurological symptoms in childhood
- Developmental delays associated with metabolic imbalances
- Difficulty managing phenylalanine levels despite dietary compliance
- Planning for pregnancy with known PKU risk factors
- Unexplained cognitive or behavioral changes
Benefits of SLC7A5 Genetic Testing
Understanding your genetic profile provides numerous advantages:
- Personalized Treatment Plans: Tailor dietary and medication strategies based on your genetic makeup
- Early Intervention: Identify risk factors before symptoms become severe
- Family Planning Guidance: Make informed decisions about genetic inheritance risks
- Improved Outcomes: Optimize management strategies for better long-term health
- Reduced Uncertainty: Gain clarity about your metabolic health status
- Comprehensive Health Insights: Understand how genetic factors influence treatment response
Understanding Your Test Results
Our genetic counselors provide detailed interpretation of your results:
- Positive Results: Indicate specific genetic variants that may influence PKU severity and treatment response
- Negative Results: Suggest standard PKU management approaches may be appropriate
- Variant of Uncertain Significance: Requires ongoing monitoring and potential family studies
- Carrier Status: Important information for family planning decisions
All results include personalized recommendations for dietary management, monitoring frequency, and potential treatment modifications.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | SLC7A5 Gene Phenylketonuria Modifier 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Preparation
Before your test, we recommend:
- Complete clinical history documentation
- Genetic counseling session to discuss testing implications
- Family pedigree chart development for affected relatives
- Understanding of potential outcomes and next steps
- Discussion of insurance coverage and payment options
Nationwide Testing Availability
We have convenient testing locations across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our certified genetic counselors and medical professionals ensure you receive the highest quality care and accurate results.
Take Control of Your Metabolic Health Today
Don’t let uncertainty about your genetic health hold you back. The SLC7A5 Gene Phenylketonuria Modifier NGS Genetic DNA Test provides the clarity you need to make informed decisions about your health and future. Our team of genetic specialists is ready to guide you through every step of the process.
Ready to schedule your test? Call or WhatsApp us today at +1(267) 388-9828 to book your appointment or speak with our genetic counseling team. Take the first step toward personalized metabolic health management and gain the insights needed for optimal wellness.
