TUFM Gene Combined Oxidative Phosphorylation Deficiency Type 4 NGS Genetic DNA Test
Comprehensive Genetic Testing for Mitochondrial Disorders
The TUFM Gene Combined Oxidative Phosphorylation Deficiency Type 4 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for mitochondrial disorders. This advanced screening utilizes cutting-edge Next-Generation Sequencing (NGS) technology to identify mutations in the TUFM gene, which plays a critical role in mitochondrial protein synthesis and cellular energy production.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets:
- Mutations in the TUFM gene encoding mitochondrial elongation factor Tu
- Variants affecting oxidative phosphorylation complex assembly
- Genetic abnormalities impacting mitochondrial protein synthesis
- Inherited patterns of Combined Oxidative Phosphorylation Deficiency Type 4
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with:
- Unexplained neurological symptoms including seizures or developmental regression
- Progressive muscle weakness and exercise intolerance
- Developmental delays in infancy or childhood
- Metabolic acidosis or lactic acidosis
- Family history of mitochondrial disorders
- Unexplained multi-system organ involvement
- Failure to thrive in infants and children
Key Benefits of TUFM Gene Testing
Early genetic diagnosis through this test provides numerous advantages:
- Accurate diagnosis guiding targeted treatment approaches
- Comprehensive genetic counseling for family planning
- Early intervention strategies to manage symptoms
- Personalized medical management based on genetic findings
- Clarification of inheritance patterns for family members
- Reduction in diagnostic uncertainty and medical costs
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your results:
- Positive Result: Indicates the presence of TUFM gene mutations associated with Combined Oxidative Phosphorylation Deficiency Type 4. Our genetic counselors will explain the implications and next steps.
- Negative Result: Suggests no detectable mutations in the TUFM gene, though other genetic causes may need investigation.
- Variant of Uncertain Significance: Some genetic changes require additional family studies for proper interpretation.
Test Pricing Information
| 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: General Physician & Genetics
- Disease Category: Metabolic Disorders
Pre-Test Requirements
Before testing, we recommend:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Informed consent process
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures accessible genetic testing services nationwide.
Take Action Today
Don’t let uncertainty about mitochondrial disorders affect your quality of life. Early genetic testing can provide clarity and guide appropriate medical management. Our experienced genetic counselors and medical professionals are ready to assist you throughout the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your TUFM Gene Combined Oxidative Phosphorylation Deficiency Type 4 NGS Genetic DNA Test and take the first step toward genetic clarity and personalized healthcare.
