MT-CO1 Gene Cytochrome c Oxidase 1 Deficiency NGS Genetic DNA Test
Comprehensive Mitochondrial Disorder Genetic Testing
The MT-CO1 Gene Cytochrome c Oxidase 1 Deficiency NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mitochondrial disorders affecting cellular energy production. This specialized genetic analysis targets the MT-CO1 gene, which encodes a critical component of cytochrome c oxidase – the final enzyme in the mitochondrial electron transport chain responsible for cellular respiration and ATP generation.
What This Advanced Genetic Test Measures
Our comprehensive NGS-based testing platform specifically analyzes the mitochondrial DNA MT-CO1 gene for pathogenic variants that disrupt cytochrome c oxidase function. The test detects:
- Point mutations and single nucleotide variants in the MT-CO1 gene
- Small insertions and deletions affecting gene function
- Heteroplasmy levels – the proportion of mutant mitochondrial DNA
- Genetic variations impacting complex IV assembly and function
Who Should Consider MT-CO1 Deficiency Testing
This specialized genetic test is recommended for individuals presenting with symptoms suggestive of mitochondrial complex IV deficiency, including:
- Unexplained neurological symptoms including seizures, ataxia, or developmental regression
- Progressive muscle weakness and exercise intolerance
- Leigh syndrome or Leigh-like disease manifestations
- Family history of mitochondrial disorders or unexplained infant deaths
- Metabolic acidosis and lactic acidosis of unknown origin
- Developmental delays and cognitive impairment
- Vision or hearing loss with neurological involvement
Significant Benefits of Early Detection
Undergoing MT-CO1 deficiency testing provides numerous clinical advantages:
- Accurate Diagnosis: Precise identification of the underlying genetic cause enables targeted treatment approaches
- Family Planning Guidance: Understanding inheritance patterns helps with reproductive decision-making
- Personalized Management: Tailored therapeutic strategies based on specific genetic findings
- Prognostic Information: Better understanding of disease progression and potential complications
- Reduced Diagnostic Odyssey: Minimizes unnecessary testing and medical procedures
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your MT-CO1 deficiency test results:
- Positive Result: Indicates the presence of pathogenic MT-CO1 variants requiring specialized management
- Negative Result: Suggests MT-CO1 gene is normal, though other mitochondrial causes may need investigation
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Heteroplasmy Level: Percentage of mutant mitochondrial DNA helps predict disease severity
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Nationwide Testing Accessibility
We provide comprehensive MT-CO1 deficiency testing services across the United States, with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our nationwide network ensures accessible genetic testing for patients throughout the country.
Take Control of Your Genetic Health
Don’t let unexplained neurological symptoms or family history of mitochondrial disorders remain unanswered. Our advanced MT-CO1 Gene Cytochrome c Oxidase 1 Deficiency NGS Genetic DNA Test provides the clarity needed for proper diagnosis and management. With our discounted price of $500 USD, comprehensive genetic analysis is more accessible than ever.
Book your appointment today by calling our genetic specialists at +1(267) 388-9828 or schedule your consultation online. Take the first step toward understanding your genetic health and developing an effective management strategy for mitochondrial disorders.
