AIFM1 Gene Combined Oxidative Phosphorylation Deficiency Type 6 NGS Genetic DNA Test
Understanding Combined Oxidative Phosphorylation Deficiency Type 6
Combined Oxidative Phosphorylation Deficiency Type 6 is a rare mitochondrial disorder caused by mutations in the AIFM1 gene, which plays a critical role in cellular energy production. This condition affects the mitochondria’s ability to generate ATP, the primary energy currency of cells, leading to severe neurological and metabolic complications. Our advanced NGS Genetic DNA Test provides comprehensive analysis of the AIFM1 gene, offering definitive diagnosis and valuable insights for affected individuals and their families.
What Does This Test Measure?
This specialized genetic test utilizes Next-Generation Sequencing (NGS) technology to thoroughly examine the AIFM1 gene for pathogenic variants. The test specifically detects:
- Point mutations and single nucleotide variants in the AIFM1 gene
- Small insertions and deletions affecting gene function
- Genetic variations that disrupt apoptosis-inducing factor function
- Mutations impacting mitochondrial respiratory chain complexes
- Variants affecting cellular energy metabolism pathways
Who Should Consider This Test?
Clinical Indications and Symptoms
This test is recommended for individuals presenting with symptoms suggestive of mitochondrial disorders, including:
- Infants and children with developmental delays or regression
- Patients experiencing progressive muscle weakness and fatigue
- Individuals with vision problems, including optic atrophy
- Those with hearing loss or auditory processing issues
- Patients with seizures or neurological abnormalities
- Individuals with family history of mitochondrial disorders
- Cases of unexplained metabolic acidosis
- Patients with growth retardation or failure to thrive
Benefits of AIFM1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Definitive Diagnosis: Confirms or rules out Combined Oxidative Phosphorylation Deficiency Type 6
- Personalized Treatment: Enables targeted therapeutic interventions based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely management of symptoms and complications
- Prognostic Information: Helps predict disease progression and potential outcomes
- Research Contribution: Advances understanding of mitochondrial disorders
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive genetic report includes detailed analysis and interpretation of your AIFM1 gene sequencing results:
- Positive Result: Identification of pathogenic variants confirms diagnosis and enables targeted management strategies
- Negative Result: Absence of known pathogenic variants may suggest alternative diagnoses
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals who may pass the condition to offspring
All results are accompanied by detailed clinical interpretation and recommendations from our board-certified genetic specialists.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | AIFM1 Gene Combined Oxidative Phosphorylation Deficiency Type 6 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood |
| Testing Method | Next-Generation Sequencing (NGS) |
Pre-Test Requirements
To ensure accurate testing and comprehensive care, we recommend:
- Complete clinical history documentation
- Genetic counseling session prior to testing
- Development of detailed family pedigree chart
- Discussion of potential outcomes and implications
- Informed consent process
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 genetic counselors and healthcare providers ensures accessible, high-quality care regardless of your location.
Take the Next Step Toward Diagnosis
If you or your loved one is experiencing symptoms suggestive of Combined Oxidative Phosphorylation Deficiency Type 6, don’t wait to get answers. Our advanced genetic testing provides the clarity needed for proper diagnosis and management. Contact our genetic specialists today to schedule your test and begin your journey toward better health.
Call us now at +1(267) 388-9828 to book your AIFM1 Gene Test or schedule a genetic counseling consultation. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
