MTO1 Gene Combined Oxidative Phosphorylation Deficiency Type 10 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Mitochondrial Disorders
The MTO1 Gene Combined Oxidative Phosphorylation Deficiency Type 10 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic conditions. This advanced test specifically targets the MTO1 gene, which plays a critical role in mitochondrial protein synthesis and oxidative phosphorylation – the fundamental process that generates cellular energy. When mutations occur in the MTO1 gene, they disrupt this essential energy production pathway, leading to Combined Oxidative Phosphorylation Deficiency Type 10, a severe mitochondrial disorder that can significantly impact multiple organ systems.
What This Test Measures and Detects
Our state-of-the-art NGS (Next-Generation Sequencing) technology provides comprehensive analysis of the MTO1 gene to identify:
- Pathogenic variants and mutations in the MTO1 gene
- Single nucleotide polymorphisms (SNPs) affecting gene function
- Insertions, deletions, and copy number variations
- Compound heterozygous mutations
- Autosomal recessive inheritance patterns
The test utilizes advanced bioinformatics pipelines to analyze the entire coding region of the MTO1 gene, ensuring high sensitivity and specificity in mutation detection. Our laboratory follows strict quality control measures and adheres to ACMG (American College of Medical Genetics) guidelines for variant interpretation.
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with symptoms suggestive of mitochondrial disorders, including:
- Infants and children with developmental delays or regression
- Patients with unexplained neurological symptoms such as seizures, ataxia, or hypotonia
- Individuals with metabolic acidosis or lactic acidosis
- Patients with cardiomyopathy or other cardiac abnormalities
- Those with failure to thrive in infancy
- Individuals with family history of mitochondrial disorders
- Patients with unexplained multi-system involvement
- Children with Leigh syndrome-like presentations
Clinical Benefits of Early Detection
Early diagnosis through genetic testing provides numerous clinical advantages:
- Personalized Treatment Planning: Enables targeted therapeutic interventions based on specific genetic findings
- Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
- Proactive Management: Allows for early intervention to prevent disease progression
- Accurate Prognosis: Helps clinicians predict disease course and potential complications
- Reduced Diagnostic Odyssey: Minimizes unnecessary testing and medical procedures
- Improved Quality of Life: Facilitates appropriate supportive care and symptom management
Understanding Your Test Results
Our comprehensive test report includes detailed interpretation of your genetic findings:
- Positive Result: Indicates the presence of pathogenic mutations in the MTO1 gene, confirming the diagnosis of Combined Oxidative Phosphorylation Deficiency Type 10. Our genetic counselors will provide detailed explanation and management recommendations.
- Negative Result: Suggests that no pathogenic variants were detected in the MTO1 gene. However, this does not completely rule out mitochondrial disorders, as other genetic causes may be involved.
- Variant of Uncertain Significance (VUS): Some genetic changes may have unclear clinical implications. Our team provides ongoing monitoring and reclassification as new evidence emerges.
All results are accompanied by detailed clinical correlations and recommendations from our board-certified genetic specialists.
Test Pricing and Sample Requirements
| Test Component | Details |
|---|---|
| Test Name | MTO1 Gene Combined Oxidative Phosphorylation Deficiency Type 10 NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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) |
Pre-Test Requirements and Preparation
To ensure accurate results and comprehensive care, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to discuss testing implications
- Development of a detailed pedigree chart documenting family members affected with similar symptoms
- Review of previous diagnostic tests and medical records
- Discussion of potential outcomes and their implications
Nationwide Accessibility and Support
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 genetic counselors and medical professionals ensures that you receive comprehensive support throughout the testing process.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about mitochondrial disorders impact your health decisions. Our MTO1 Gene Combined Oxidative Phosphorylation Deficiency Type 10 NGS Genetic DNA Test provides the definitive answers you need for informed medical management. With our discounted price of $500 USD and comprehensive genetic analysis, you can gain valuable insights into your genetic health.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take control of your health journey.
Our dedicated team of genetic specialists is ready to guide you through the testing process, answer your questions, and provide the expert care you deserve. Early detection through genetic testing can make a significant difference in managing mitochondrial disorders and improving quality of life.
