GTPBP3 Gene Combined Oxidative Phosphorylation Deficiency Type 23 NGS Genetic DNA Test
Comprehensive Mitochondrial Disorder Genetic Testing
The GTPBP3 Gene Combined Oxidative Phosphorylation Deficiency Type 23 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare mitochondrial disorders. This advanced genetic analysis specifically targets the GTPBP3 gene, which plays a critical role in mitochondrial protein synthesis and energy production. Combined oxidative phosphorylation deficiency type 23 is a severe metabolic condition that disrupts the body’s ability to generate cellular energy, leading to multi-system complications.
What This Test Measures and Detects
This specialized genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the GTPBP3 gene for pathogenic variants. The test specifically identifies:
- Point mutations in the GTPBP3 gene coding regions
- Small insertions and deletions affecting gene function
- Pathogenic variants disrupting mitochondrial tRNA modification
- Genetic abnormalities impacting oxidative phosphorylation complex assembly
- Inheritance patterns for genetic counseling purposes
Who Should Consider This Genetic Test
This test is particularly 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
- Metabolic acidosis and lactic acidosis episodes
- Failure to thrive in infants and children
- Cardiomyopathy or cardiac conduction abnormalities
- Hepatic dysfunction and gastrointestinal symptoms
- Family history of mitochondrial disorders or unexplained infant deaths
- Developmental delays and intellectual disability
Clinical Benefits of GTPBP3 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out Combined Oxidative Phosphorylation Deficiency Type 23
- Personalized Treatment: Enables targeted therapeutic interventions based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Information: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely management strategies to improve outcomes
- Research Contribution: Advances understanding of rare mitochondrial disorders
Understanding Your Test Results
Our comprehensive genetic counseling team will help you interpret your results:
- Positive Result: Indicates the presence of pathogenic GTPBP3 gene variants associated with Combined Oxidative Phosphorylation Deficiency Type 23
- Negative Result: Suggests no detectable mutations in the GTPBP3 gene, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
Test Pricing Information
| Test Component | Price (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
- Testing Method: Next-Generation Sequencing (NGS) Technology
- Specialty: General Physician and Genetics
- Department: Genetics
- Disease Category: Metabolic Disorders
Pre-Test Requirements
Before undergoing testing, patients should provide:
- Complete clinical history relevant to mitochondrial symptoms
- Participation in genetic counseling session
- Detailed pedigree chart of family members affected by similar conditions
- Informed consent for genetic testing
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, high-quality testing results nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about mitochondrial disorders affect your quality of life. Our comprehensive GTPBP3 genetic testing provides the answers you need for informed medical decisions. With rapid turnaround times and expert genetic counseling support, we’re committed to helping you understand your genetic health.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward clarity and personalized care.
