MT-ND6 Gene Mitochondrial Complex I Deficiency NGS Genetic DNA Test
Comprehensive Genetic Analysis for Mitochondrial Energy Disorders
The MT-ND6 Gene Mitochondrial Complex I Deficiency NGS Genetic DNA Test represents a breakthrough in mitochondrial disorder diagnostics, offering precise identification of genetic mutations that disrupt cellular energy production. Mitochondrial complex I deficiency is a severe metabolic condition affecting the first and largest enzyme complex in the mitochondrial respiratory chain, responsible for generating approximately 40% of cellular ATP. This advanced genetic test provides critical insights for patients and families affected by these debilitating conditions.
What Does This Test Measure and Detect?
Our specialized NGS genetic test specifically targets the MT-ND6 gene, which encodes a crucial subunit of mitochondrial complex I. The test detects:
- Point mutations and single nucleotide variants in the MT-ND6 gene
- Small insertions and deletions affecting mitochondrial DNA
- Heteroplasmic mutations with varying mutation loads
- Pathogenic variants associated with Leigh syndrome and other mitochondrial disorders
- Genetic markers for mitochondrial encephalomyopathy and lactic acidosis
Who Should Consider This Genetic Test?
This comprehensive mitochondrial DNA test is recommended for individuals presenting with:
- Unexplained muscle weakness and exercise intolerance
- Developmental delays or regression in children
- Vision problems including optic atrophy or retinal degeneration
- Neurological symptoms such as seizures, ataxia, or dystonia
- Metabolic acidosis with elevated lactate levels
- Family history of mitochondrial disorders or unexplained infant deaths
- Progressive neurological deterioration despite standard treatments
Clinical Benefits of MT-ND6 Genetic Testing
Undergoing this specialized genetic analysis provides numerous advantages:
- Accurate Diagnosis: Precise identification of the underlying genetic cause enables targeted treatment approaches
- Family Planning: Genetic counseling based on test results helps families understand inheritance patterns and recurrence risks
- Personalized Treatment: Test results guide the development of individualized management strategies and therapeutic interventions
- Prognostic Information: Understanding the specific mutation helps predict disease progression and potential complications
- Research Contribution: Participation in genetic testing advances scientific understanding of mitochondrial disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your MT-ND6 test results:
- Positive Result: Indicates the presence of a pathogenic mutation in the MT-ND6 gene, confirming mitochondrial complex I deficiency
- Negative Result: Suggests no detectable mutation in the MT-ND6 gene, though other genetic causes may require investigation
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact, requiring further evaluation
- Heteroplasmy Level: Measures the percentage of mutated mitochondrial DNA, which correlates with disease severity
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or Blood on FTA Card |
Nationwide Testing Availability
We provide comprehensive MT-ND6 genetic testing services across the United States, with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our state-of-the-art genetic laboratories ensure accurate and reliable results for patients nationwide.
Take Control of Your Genetic Health Today
Don’t let unexplained symptoms compromise your quality of life. Our MT-ND6 Gene Mitochondrial Complex I Deficiency NGS Genetic DNA Test provides the answers you need for proper diagnosis and treatment planning. With advanced NGS technology and expert genetic counseling, we deliver comprehensive insights into mitochondrial health.
Call us today at +1(267) 388-9828 to schedule your genetic test or speak with our genetic specialists. Early detection and accurate diagnosis can significantly impact treatment outcomes and quality of life for individuals with mitochondrial disorders.
