MT-ATP6 Gene Mitochondrial Complex V ATP Synthase Deficiency NGS Genetic DNA Test
Understanding Mitochondrial Complex V ATP Synthase Deficiency
Mitochondrial Complex V ATP Synthase Deficiency represents a critical genetic disorder affecting the body’s primary energy production system. The MT-ATP6 gene encodes a crucial subunit of mitochondrial ATP synthase, the enzyme complex responsible for generating adenosine triphosphate (ATP) – the fundamental energy currency of cells. When mutations occur in this gene, they disrupt the normal function of complex V, leading to impaired cellular energy production and potentially severe clinical manifestations.
What This Advanced Genetic Test Measures
Our comprehensive NGS Genetic DNA Test specifically targets the MT-ATP6 gene to identify pathogenic variants that cause mitochondrial complex V deficiency. The test utilizes cutting-edge Next Generation Sequencing technology to analyze the entire mitochondrial genome, with particular focus on the MT-ATP6 region. This sophisticated approach detects:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Complex rearrangements affecting ATP synthase function
- Heteroplasmic mutations (mixed mitochondrial DNA populations)
- Known pathogenic variants associated with neurological disorders
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is particularly recommended for individuals presenting with symptoms suggestive of mitochondrial disorders, including:
- Unexplained neurological symptoms including seizures, ataxia, or developmental regression
- Progressive muscle weakness and exercise intolerance
- Developmental delays in children or cognitive decline in adults
- Metabolic abnormalities such as lactic acidosis
- Vision or hearing loss of unknown origin
- Family history of mitochondrial disorders or unexplained infant deaths
- Multiple organ system involvement without clear diagnosis
Comprehensive Benefits of Genetic Testing
Transformative Diagnostic Insights
Undergoing the MT-ATP6 Gene Mitochondrial Complex V ATP Synthase Deficiency test provides numerous critical benefits:
- Accurate Diagnosis: Obtain definitive answers for complex neurological symptoms
- Personalized Treatment Planning: Guide therapeutic interventions based on specific genetic findings
- Family Risk Assessment: Understand inheritance patterns and risks for family members
- Reproductive Planning: Make informed decisions about family planning with genetic counseling
- Proactive Health Management: Implement preventive measures and monitoring strategies
- Research Contribution: Contribute to advancing understanding of mitochondrial disorders
Understanding Your Test Results
Interpreting Genetic Findings
Your test results will be carefully analyzed and interpreted by our team of genetic specialists. The report will include:
- Pathogenic Variants: Identification of known disease-causing mutations
- Variant Classification: Clear categorization of genetic changes based on clinical significance
- Clinical Correlation: Explanation of how identified variants relate to symptoms
- Inheritance Pattern: Guidance on mitochondrial inheritance and family implications
- Management Recommendations: Evidence-based suggestions for clinical follow-up
All positive results include comprehensive genetic counseling to ensure complete understanding and appropriate next steps.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | MT-ATP6 Gene Mitochondrial Complex V ATP Synthase Deficiency 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) Technology |
| Specialty | Neurology and Genetics |
Pre-Test Preparation Requirements
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to create detailed family pedigree chart
- Documentation of affected family members with similar symptoms
- Comprehensive neurological and metabolic evaluation records
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 control your life. The MT-ATP6 Gene Mitochondrial Complex V ATP Synthase Deficiency NGS Genetic DNA Test provides the clarity and answers you need for proper diagnosis and treatment. Our team of genetic specialists and neurologists are ready to guide you through this important diagnostic journey.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Take the first step toward understanding your genetic health and securing your family’s future.
