SLC16A1 Gene Erythrocyte Lactate Transporter Defect NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The SLC16A1 Gene Erythrocyte Lactate Transporter Defect NGS Genetic DNA Test represents a significant advancement in the diagnosis and management of inherited metabolic disorders. This specialized genetic analysis focuses on the SLC16A1 gene, which encodes the monocarboxylate transporter 1 (MCT1) protein responsible for lactate transport across red blood cell membranes. When this transporter malfunctions, it can lead to serious metabolic complications affecting overall health and physical performance.
What This Test Measures and Detects
Our advanced NGS genetic testing technology provides comprehensive analysis of the SLC16A1 gene to identify:
- Point mutations and single nucleotide variants affecting gene function
- Insertions and deletions that disrupt normal protein structure
- Copy number variations impacting gene expression
- Regulatory region mutations affecting transporter production
- Pathogenic variants associated with erythrocyte lactate transport defects
Who Should Consider This Test
This genetic test is particularly recommended for individuals experiencing:
- Unexplained exercise intolerance and premature muscle fatigue
- Recurrent metabolic acidosis episodes without clear cause
- Family history of erythrocyte lactate transporter defects
- Unexplained hemolytic anemia or red blood cell disorders
- Metabolic abnormalities during physical exertion
- Developmental delays associated with metabolic dysfunction
- Consanguineous parents with metabolic concerns
Clinical Benefits of Genetic Testing
Undergoing the SLC16A1 gene test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out erythrocyte lactate transporter defects
- Personalized Treatment: Enables targeted therapeutic interventions
- Family Planning: Provides crucial information for genetic counseling
- Early Intervention: Facilitates proactive management strategies
- Disease Monitoring: Helps track treatment effectiveness over time
- Research Contribution: Advances understanding of metabolic disorders
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Indicates presence of pathogenic variants associated with erythrocyte lactate transporter defects, requiring specialized medical management
- Negative Result: Suggests absence of known disease-causing mutations in the SLC16A1 gene
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact, requiring further evaluation
- Carrier Status: Determines if you carry one copy of a mutated gene without showing symptoms
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Technology: Next-Generation Sequencing (NGS)
- Specialty: General Physician & Genetics
- Disease Category: Metabolic Disorders
Pre-Test Requirements
Before undergoing testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session with our specialists
- Development of detailed family pedigree chart
- Discussion of potential outcomes and implications
- Informed consent process completion
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic testing facilities ensures accessibility and convenience for patients nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about metabolic disorders affect your quality of life. Our SLC16A1 Gene Erythrocyte Lactate Transporter Defect NGS Genetic DNA Test provides the clarity you need for informed healthcare decisions. With advanced NGS technology and expert genetic analysis, we deliver accurate, reliable results you can trust.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward understanding your metabolic health.
