MTFMT Gene Combined Oxidative Phosphorylation Deficiency Type 15 NGS Genetic DNA Test
Understanding MTFMT Gene Deficiency and Its Clinical Significance
Combined Oxidative Phosphorylation Deficiency Type 15 (COXPD15) represents a rare but serious mitochondrial disorder caused by mutations in the MTFMT gene. This gene plays a critical role in mitochondrial protein synthesis, specifically in the initiation of mitochondrial translation. When MTFMT function is compromised, it disrupts the proper assembly of oxidative phosphorylation complexes, leading to impaired cellular energy production and widespread metabolic consequences.
The MTFMT gene encodes mitochondrial methionyl-tRNA formyltransferase, an essential enzyme that formulates the initiator methionyl-tRNA in mitochondria. This process is fundamental for the proper initiation of protein synthesis within these energy-producing organelles. Without functional MTFMT, mitochondrial proteins cannot be synthesized correctly, resulting in the characteristic features of COXPD15.
What This Advanced Genetic Test Detects
Our comprehensive NGS (Next-Generation Sequencing) genetic test specifically targets the MTFMT gene to identify pathogenic variants responsible for Combined Oxidative Phosphorylation Deficiency Type 15. The test provides:
- Complete sequencing of the MTFMT gene coding regions
- Detection of point mutations, insertions, and deletions
- Analysis of splice site variants that may affect gene function
- Identification of both inherited and de novo mutations
- Comprehensive variant interpretation by board-certified geneticists
The test utilizes state-of-the-art NGS technology, offering superior sensitivity and accuracy compared to traditional genetic testing methods. This advanced approach ensures that even rare or novel mutations are detected, providing patients and healthcare providers with definitive diagnostic information.
Who Should Consider MTFMT Gene Testing?
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with symptoms suggestive of mitochondrial disorders, particularly:
- Infants and children with developmental delay or regression
- Patients with neurological symptoms including seizures, ataxia, or hypotonia
- Individuals with metabolic acidosis or lactic acidosis
- Patients with failure to thrive despite adequate nutrition
- Those with family history of mitochondrial disorders or unexplained infant deaths
- Individuals with abnormal brain MRI findings suggestive of leukoencephalopathy
- Patients with ophthalmological abnormalities including nystagmus or optic atrophy
Pre-Test Requirements
Before undergoing testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to assess family inheritance patterns
- Development of a detailed pedigree chart documenting affected family members
- Discussion of potential outcomes and implications of test results
Significant Benefits of MTFMT Genetic Testing
Undergoing MTFMT gene testing provides numerous advantages for patients and families:
- Definitive Diagnosis: Confirms or rules out COXPD15 with high accuracy
- Personalized Treatment: Enables targeted therapeutic interventions based on genetic findings
- Family Planning: Provides crucial information for reproductive decision-making
- Prognostic Information: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely management of symptoms and complications
- Research Contribution: Contributes to the growing understanding of mitochondrial disorders
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
Possible Outcomes
- Positive Result: Identification of pathogenic MTFMT variants confirms diagnosis of COXPD15
- Negative Result: No pathogenic variants detected, effectively ruling out MTFMT-related COXPD15
- Variant of Uncertain Significance (VUS): Identification of genetic changes with unclear clinical impact requiring further evaluation
Post-Test Guidance
Following testing, we provide:
- Detailed explanation of results by genetic counselors
- Recommendations for additional testing if indicated
- Referrals to appropriate specialists for management
- Family testing recommendations when applicable
- Long-term follow-up planning and monitoring strategies
Test Details and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | MTFMT Gene Combined Oxidative Phosphorylation Deficiency Type 15 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 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 | Metabolic Genetics |
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, and San Jose. Our network of certified collection centers ensures accessible testing 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 15, don’t wait to get answers. Our comprehensive MTFMT gene testing provides the clarity needed for proper diagnosis and management.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our genetic specialists are available to answer your questions and guide you through the testing process.
Early diagnosis through advanced genetic testing can make a significant difference in managing mitochondrial disorders. Take control of your health journey with definitive genetic insights from America’s leading genetics laboratory.
