TRMT5 Gene Combined Oxidative Phosphorylation Deficiency Type 26 NGS Genetic DNA Test
Comprehensive Genetic Testing for Mitochondrial Disorders
The TRMT5 Gene Combined Oxidative Phosphorylation Deficiency Type 26 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for mitochondrial disorders. This advanced test specifically targets the TRMT5 gene, which plays a critical role in mitochondrial function and cellular energy production. Combined Oxidative Phosphorylation Deficiency Type 26 (COXPD26) is a rare but serious metabolic condition that affects multiple body systems, making accurate diagnosis essential for proper management and treatment.
What Does This Test Measure and Detect?
This sophisticated genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the TRMT5 gene for mutations and variations. The test specifically detects:
- Pathogenic variants in the TRMT5 gene that disrupt mitochondrial protein synthesis
- Mutations affecting tRNA modification and mitochondrial function
- Genetic alterations responsible for impaired oxidative phosphorylation
- Inheritance patterns of COXPD26 within families
- Specific genetic markers associated with disease severity and progression
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
Individuals presenting with the following symptoms or clinical features should consider the TRMT5 Gene Test:
- Infants and children with developmental delays or regression
- Patients experiencing progressive muscle weakness or hypotonia
- Individuals with neurological symptoms including seizures or ataxia
- Those with metabolic abnormalities such as lactic acidosis
- Patients with failure to thrive or growth retardation
- Individuals with family history of mitochondrial disorders
- Cases of unexplained multisystem involvement
Key Benefits of TRMT5 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Provides definitive identification of COXPD26, eliminating diagnostic uncertainty
- Personalized Treatment: Enables targeted therapeutic approaches based on specific 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
Interpretation and Clinical Implications
Your TRMT5 Gene Test results will be thoroughly explained by our genetic specialists. The interpretation includes:
- Positive Result: Indicates the presence of pathogenic TRMT5 mutations confirming COXPD26 diagnosis
- Negative Result: Suggests absence of known TRMT5 mutations, though other genetic causes may need investigation
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
All results are accompanied by detailed clinical guidance and recommendations for next steps in management.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Methodology: Next-Generation Sequencing (NGS) Technology
- Specialty: Metabolic Genetics
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications and potential outcomes
- Informed consent process
Nationwide Accessibility
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 genetic counselors and medical professionals ensures consistent, high-quality care regardless of location.
Take the Next Step Toward Genetic Clarity
Don’t let diagnostic uncertainty delay proper care. The TRMT5 Gene Combined Oxidative Phosphorylation Deficiency Type 26 NGS Genetic DNA Test provides the definitive answers needed for effective management of mitochondrial disorders. Our team of genetic specialists is ready to guide you through the testing process and help interpret your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your appointment or learn more about this essential genetic test. Take control of your genetic health with confidence and clarity.
