SLC16A1 Gene Monocarboxylate Transporter 1 Deficiency NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The SLC16A1 Gene Monocarboxylate Transporter 1 Deficiency NGS Genetic DNA Test represents a breakthrough in precision medicine for diagnosing rare metabolic conditions. This advanced genetic analysis focuses on the SLC16A1 gene, which encodes the Monocarboxylate Transporter 1 (MCT1) protein essential for cellular energy metabolism. MCT1 plays a critical role in transporting lactate, pyruvate, and ketone bodies across cell membranes, making it vital for energy production during physical activity and metabolic stress.
What This Test Measures and Detects
Our comprehensive NGS genetic test specifically targets:
- Complete sequencing of the SLC16A1 gene coding regions
- Detection of point mutations, insertions, and deletions
- Identification of novel genetic variants affecting MCT1 function
- Assessment of genetic markers associated with exercise intolerance syndromes
- Analysis of variants impacting lactate transport and cellular metabolism
Who Should Consider This Test?
This specialized genetic test is recommended for individuals experiencing:
- Unexplained exercise intolerance and muscle fatigue
- Recurrent metabolic acidosis episodes
- Family history of metabolic disorders or unexplained muscle conditions
- Diagnostic challenges in metabolic disease evaluation
- Suspected inherited transport defects affecting energy metabolism
- Children with developmental delays and metabolic symptoms
Clinical Symptoms and Indications
Patients with potential MCT1 deficiency often present with:
- Severe muscle pain and cramping during exercise
- Rapid fatigue with minimal physical activity
- Elevated blood lactate levels without clear cause
- Metabolic acidosis following exertion
- Muscle weakness that improves with rest
- Family members with similar exercise-related symptoms
Benefits of SLC16A1 Genetic Testing
Choosing our advanced NGS genetic test provides numerous advantages:
- Accurate Diagnosis: Precise identification of SLC16A1 gene mutations
- Personalized Treatment: Tailored management strategies based on genetic findings
- Family Planning: Genetic counseling for inheritance risk assessment
- Early Intervention: Timely implementation of appropriate therapies
- Comprehensive Analysis: State-of-the-art NGS technology for complete gene evaluation
- Expert Interpretation: Board-certified genetic specialists review all results
Understanding Your Test Results
Our comprehensive genetic report includes:
- Positive Result: Identifies specific SLC16A1 gene mutation confirming MCT1 deficiency diagnosis
- Negative Result: No pathogenic variants detected in the SLC16A1 gene
- Variant of Uncertain Significance: Genetic changes requiring additional clinical correlation
- Carrier Status: Identification of individuals carrying one copy of mutated gene
All results include detailed interpretation by our genetic counseling team, with recommendations for clinical management and family testing when appropriate.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | SLC16A1 Gene Monocarboxylate Transporter 1 Deficiency 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 Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of potential results and their meaning
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing 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. Our network of certified collection centers ensures accessible testing regardless of your location.
Take Control of Your Health Today
Don’t let unexplained symptoms compromise your quality of life. Our SLC16A1 genetic test provides the answers you need for proper diagnosis and effective management. Early detection of Monocarboxylate Transporter 1 deficiency can significantly improve treatment outcomes and quality of life.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and achieving optimal wellness.
