SLC25A1 Gene Combined D-2- and L-2-Hydroxyglutaric Aciduria NGS Genetic DNA Test
Comprehensive Introduction to SLC25A1 Genetic Testing
The SLC25A1 Gene Combined D-2- and L-2-Hydroxyglutaric Aciduria NGS Genetic DNA Test represents a breakthrough in metabolic disorder diagnostics. This advanced genetic screening specifically targets mutations in the SLC25A1 gene, which plays a critical role in mitochondrial function and energy metabolism. Combined D-2- and L-2-hydroxyglutaric aciduria is a rare inherited metabolic condition characterized by abnormal accumulation of specific organic acids, leading to significant neurological and developmental challenges.
Our state-of-the-art Next-Generation Sequencing (NGS) technology provides unparalleled accuracy in detecting genetic variations associated with this complex disorder. Early identification through this test can significantly impact treatment outcomes and quality of life for affected individuals and their families.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets:
- Mutations in the SLC25A1 gene encoding the mitochondrial citrate carrier
- Genetic variations responsible for combined D-2- and L-2-hydroxyglutaric aciduria
- Pathogenic variants affecting mitochondrial energy metabolism
- Inheritance patterns and carrier status identification
- Specific nucleotide changes impacting protein function
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This test is recommended for individuals presenting with:
- Unexplained developmental delays in infancy or childhood
- Neurological symptoms including seizures or epilepsy
- Progressive neurological deterioration
- Hypotonia (reduced muscle tone) and muscle weakness
- Abnormal brain imaging findings
- Family history of metabolic disorders or consanguinity
- Elevated hydroxyglutaric acid levels in urine organic acid analysis
Significant Benefits of Genetic Testing
Undergoing the SLC25A1 genetic test provides numerous advantages:
- Early Diagnosis: Enables prompt intervention and management strategies
- Personalized Treatment: Guides targeted therapeutic approaches
- Family Planning: Provides crucial information for genetic counseling
- Prognostic Insights: Helps predict disease progression and outcomes
- Carrier Detection: Identifies asymptomatic family members at risk
- Research Contribution: Advances understanding of rare metabolic disorders
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results:
- Positive Result: Indicates presence of pathogenic mutations requiring immediate medical consultation
- Negative Result: Suggests absence of known disease-causing variants in the SLC25A1 gene
- Variant of Uncertain Significance: Requires additional clinical correlation and follow-up testing
- Carrier Status: Identifies individuals who may pass the condition to offspring
All results are accompanied by detailed explanations and recommendations for next steps. Our genetic counseling team is available to help you understand your results and make informed healthcare decisions.
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| SLC25A1 Gene Combined D-2- and L-2-Hydroxyglutaric Aciduria NGS Genetic DNA Test | $700 |
| Discount Price | $500 |
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, and San Jose. Our network of certified genetic testing facilities ensures accessibility and convenience for patients nationwide.
Take Control of Your Genetic Health Today
Don’t wait to get the answers you need about your metabolic health. Our advanced SLC25A1 genetic testing provides the clarity and confidence required for informed medical decisions. With our discounted price of only $500 USD, this comprehensive analysis represents exceptional value in genetic diagnostics.
Call our genetic specialists today at +1(267) 388-9828 to schedule your consultation and testing appointment. Our team is ready to guide you through the testing process and help you understand your results.
Remember: Early genetic testing can make a significant difference in managing metabolic disorders and improving long-term health outcomes. Take the first step toward genetic clarity and personalized healthcare today.
