SFXN4 Gene Combined Oxidative Phosphorylation Deficiency Type 18 NGS Genetic DNA Test
Understanding Combined Oxidative Phosphorylation Deficiency Type 18
Combined Oxidative Phosphorylation Deficiency Type 18 is a rare inherited metabolic disorder caused by mutations in the SFXN4 gene, which plays a critical role in mitochondrial function and cellular energy production. This condition affects the body’s ability to generate adenosine triphosphate (ATP), the primary energy currency of cells, leading to multi-system complications primarily involving neurological and muscular systems.
What This Test Measures and Detects
Our advanced NGS Genetic DNA Test specifically analyzes the SFXN4 gene to identify pathogenic variants responsible for Combined Oxidative Phosphorylation Deficiency Type 18. The test provides comprehensive coverage of:
- Complete sequencing of the SFXN4 gene coding regions
- Detection of point mutations, insertions, and deletions
- Analysis of splice site variants affecting gene expression
- Identification of both inherited and de novo mutations
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 or developmental regression
- Progressive muscle weakness and exercise intolerance
- Developmental delays in motor skills and cognitive function
- Metabolic abnormalities including lactic acidosis
- Family history of similar symptoms or confirmed mitochondrial disorders
- Infants and children with failure to thrive and multisystem involvement
Benefits of SFXN4 Gene Testing
Early and accurate diagnosis through genetic testing provides numerous advantages:
- Precise Diagnosis: Confirms or rules out Combined Oxidative Phosphorylation Deficiency Type 18
- Treatment Guidance: Enables targeted therapeutic interventions and management strategies
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Information: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare metabolic disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results effectively:
- Positive Result: Indicates the presence of pathogenic SFXN4 gene mutations, confirming diagnosis and guiding treatment approaches
- Negative Result: Suggests that SFXN4 mutations are not the cause of symptoms, directing further diagnostic evaluation
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications, requiring ongoing monitoring and research
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
Test Details and Pricing
| Test Feature | Details |
|---|---|
| Test Name | SFXN4 Gene Combined Oxidative Phosphorylation Deficiency Type 18 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 |
Pre-Test Requirements
To ensure accurate results and comprehensive care, we require:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to create detailed pedigree chart of family members affected by Combined Oxidative Phosphorylation Deficiency Type 18
- Informed consent for genetic testing and result interpretation
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in major cities 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 you receive expert care regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about potential genetic disorders affect your quality of life. Our SFXN4 Gene Combined Oxidative Phosphorylation Deficiency Type 18 NGS Genetic DNA Test provides the clarity you need for informed medical decisions and comprehensive family planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our dedicated team is ready to guide you through every step of the testing process and help you understand your genetic health.
