TSFM Gene Combined Oxidative Phosphorylation Deficiency Type 3 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Mitochondrial Disorders
The TSFM Gene Combined Oxidative Phosphorylation Deficiency Type 3 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for mitochondrial disorders. This advanced test specifically targets mutations in the TSFM (mitochondrial translation elongation factor Ts) gene, which plays a critical role in mitochondrial protein synthesis and energy production within cells.
What This Test Measures and Detects
This sophisticated genetic analysis utilizes Next-Generation Sequencing (NGS) technology to comprehensively examine the TSFM gene for:
- Point mutations and single nucleotide variants
- Insertions and deletions affecting gene function
- Pathogenic variants associated with Combined Oxidative Phosphorylation Deficiency Type 3
- Genetic alterations impacting mitochondrial translation machinery
- Inheritance patterns and carrier status
The test provides detailed information about genetic variations that disrupt mitochondrial energy production, leading to multisystem clinical manifestations.
Who Should Consider This Test
This genetic test is recommended for individuals presenting with symptoms suggestive of mitochondrial disorders, including:
- Unexplained neurological symptoms such as seizures, ataxia, or developmental regression
- Progressive muscle weakness and exercise intolerance
- Developmental delays in infants and children
- Metabolic abnormalities including lactic acidosis
- Failure to thrive in infancy
- Family history of mitochondrial disorders or unexplained infant deaths
- Multiple organ system involvement without clear diagnosis
Clinical Benefits of Genetic Testing
Undergoing the TSFM Gene Combined Oxidative Phosphorylation Deficiency Type 3 NGS Genetic DNA Test offers numerous advantages:
- Accurate Diagnosis: Provides definitive genetic confirmation of Combined Oxidative Phosphorylation Deficiency Type 3
- Personalized Treatment: Enables targeted therapeutic approaches based on specific genetic findings
- Family Planning: Identifies carrier status and recurrence risks for future pregnancies
- Prognostic Information: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely management strategies to optimize outcomes
- Research Contribution: Advances understanding of mitochondrial disorders and potential treatments
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and medical geneticists. Results typically fall into three categories:
- Positive Result: Identifies a pathogenic variant in the TSFM gene, confirming the diagnosis of Combined Oxidative Phosphorylation Deficiency Type 3
- Negative Result: No pathogenic variants detected in the TSFM gene, though other genetic causes may need consideration
- Variant of Uncertain Significance (VUS): Identifies a genetic change whose clinical significance is currently unknown, requiring ongoing monitoring and research
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps for medical management.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States, with convenient 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 cities nationwide. Our network of certified collection centers ensures accessible testing for patients throughout the country.
Pre-Test Requirements
Before undergoing the TSFM Gene Combined Oxidative Phosphorylation Deficiency Type 3 NGS Genetic DNA Test, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to discuss test implications
- Development of detailed family pedigree chart
- Review of potential psychological and social impacts
- Discussion of insurance coverage and financial considerations
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about mitochondrial disorders impact your health decisions. Our advanced NGS technology provides the most comprehensive genetic analysis available for TSFM gene mutations. With results delivered within 3-4 weeks and comprehensive genetic counseling included, you’ll receive the clarity needed for informed medical decisions.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take control of your genetic health journey.
Our team of genetic specialists is ready to guide you through the testing process, answer your questions, and provide the support you need during this important diagnostic journey. Book your appointment today and move forward with confidence in your genetic health assessment.
