ATP5F1A Gene Combined Oxidative Phosphorylation Deficiency Type 22 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Mitochondrial Energy Disorders
The ATP5F1A Gene Combined Oxidative Phosphorylation Deficiency Type 22 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for mitochondrial disorders. This advanced genetic screening utilizes state-of-the-art Next-Generation Sequencing technology to identify mutations in the ATP5F1A gene, which plays a critical role in cellular energy production through oxidative phosphorylation.
What This Test Measures and Detects
This specialized genetic test specifically targets the ATP5F1A gene, which encodes a subunit of mitochondrial ATP synthase – the enzyme complex responsible for generating cellular energy. The test detects:
- Pathogenic variants and mutations in the ATP5F1A gene
- Single nucleotide polymorphisms associated with Combined Oxidative Phosphorylation Deficiency Type 22
- Copy number variations affecting mitochondrial function
- Inheritance patterns of mitochondrial disorders
- Risk assessment for metabolic disease progression
Clinical Indications: Who Should Consider This Test
This genetic screening is recommended for individuals presenting with symptoms suggestive of mitochondrial dysfunction, including:
- Unexplained neurological symptoms such as seizures, ataxia, or developmental regression
- Progressive muscle weakness and exercise intolerance
- Metabolic acidosis or lactic acidosis without clear cause
- Developmental delays in infants and children
- Family history of mitochondrial disorders or unexplained infant deaths
- Multiple organ system involvement without definitive diagnosis
- Suspected metabolic disorders with energy production defects
Benefits of ATP5F1A Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Provides definitive identification of ATP5F1A-related disorders
- Personalized Treatment: Enables targeted therapeutic interventions based on genetic findings
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Prognostic Insights: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely management strategies to improve outcomes
- Research Contribution: Advances understanding of mitochondrial disorders
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your ATP5F1A gene analysis:
- Positive Result: Indicates the presence of pathogenic variants associated with Combined Oxidative Phosphorylation Deficiency Type 22, requiring immediate consultation with a metabolic specialist
- Negative Result: Suggests no detectable mutations in the ATP5F1A gene, though other genetic causes should be considered if symptoms persist
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications, requiring ongoing monitoring and potential family studies
- Carrier Status: Determines if you carry a single copy of a mutated gene, important for family planning decisions
Test Specifications and Pricing
| Test Component | Details |
|---|---|
| Test Name | ATP5F1A Gene Combined Oxidative Phosphorylation Deficiency Type 22 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 |
Pre-Test Requirements and Preparation
Before scheduling your ATP5F1A genetic test, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to discuss testing implications
- Development of a detailed family pedigree chart
- Review of previous metabolic and neurological evaluations
- Discussion of potential outcomes and management strategies
Nationwide Testing Accessibility
We maintain comprehensive testing facilities across the United States, with specialized genetic testing centers in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our network ensures convenient access to advanced genetic diagnostics regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about mitochondrial disorders impact your quality of life. Our ATP5F1A genetic testing provides the clarity needed for informed medical decisions and personalized treatment approaches. With our discounted rate of $500 and comprehensive genetic analysis, you can gain valuable insights into your metabolic health.
Ready to schedule your genetic screening? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
Early detection through genetic testing can significantly impact treatment outcomes and quality of life for individuals with mitochondrial disorders. Take the first step toward understanding your genetic health with our advanced ATP5F1A screening technology.
