OXCT1 Gene Succinyl CoA:3-Oxoacid CoA Transferase Deficiency NGS Genetic DNA Test
Comprehensive Introduction to OXCT1 Gene Deficiency Testing
The OXCT1 Gene Succinyl CoA:3-Oxoacid CoA Transferase Deficiency NGS Genetic DNA Test represents a significant advancement in metabolic disorder diagnostics. This specialized genetic test focuses on identifying mutations in the OXCT1 gene, which encodes the enzyme succinyl-CoA:3-oxoacid CoA transferase. This enzyme plays a critical role in ketone body metabolism, specifically in converting acetoacetate to acetoacetyl-CoA during periods of fasting or metabolic stress. When this enzyme is deficient, the body cannot properly utilize ketone bodies as an alternative energy source, leading to potentially severe metabolic complications.
The importance of this test cannot be overstated, as early detection of OXCT1 gene mutations enables timely intervention and management strategies that can significantly improve patient outcomes. With our advanced Next-Generation Sequencing technology, we provide comprehensive analysis of the entire OXCT1 gene, ensuring high accuracy and reliability in detecting even the most subtle genetic variations.
What This Test Measures and Detects
Our NGS Genetic DNA Test specifically targets and analyzes:
- Complete sequencing of the OXCT1 gene to identify pathogenic variants
- Detection of point mutations, insertions, deletions, and other genetic alterations
- Assessment of enzyme function disruption that leads to metabolic imbalance
- Identification of inherited patterns through comprehensive genetic analysis
- Evaluation of ketone body utilization pathway integrity
Technical Specifications
- Methodology: Next-Generation Sequencing (NGS) Technology
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Specialty: General Physician
- Department: Genetics
- Disease Type: Metabolic Disorders
Who Should Consider This Test
This genetic test is particularly recommended for individuals presenting with:
- Unexplained metabolic acidosis episodes
- Recurrent ketoacidosis without diabetes
- Developmental delays or neurological symptoms
- Family history of metabolic disorders
- Unexplained lethargy, vomiting, or feeding difficulties in infants
- Abnormal laboratory findings suggesting ketone metabolism issues
- Consanguineous parents or family history of genetic disorders
Essential Benefits of OXCT1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Early Diagnosis: Enables prompt identification of the underlying genetic cause
- Personalized Treatment: Guides development of tailored management strategies
- Genetic Counseling: Provides crucial information for family planning decisions
- Risk Assessment: Identifies at-risk family members for preventive measures
- Improved Outcomes: Facilitates early intervention to prevent complications
- Peace of Mind: Offers clarity and reduces diagnostic uncertainty
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results:
- Positive Result: Indicates the presence of pathogenic OXCT1 gene mutations, confirming the diagnosis of succinyl-CoA:3-oxoacid CoA transferase deficiency
- Negative Result: Suggests no detectable mutations in the OXCT1 gene, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if you carry one copy of a mutated gene, important for family planning
All results are accompanied by detailed explanations and recommendations from our genetic specialists. We provide guidance on next steps, including dietary modifications, monitoring protocols, and potential treatment options based on your specific genetic findings.
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Pre-Test Instructions
To ensure optimal testing conditions and accurate results, please follow these guidelines:
- Provide complete clinical history of the patient
- Schedule a Genetic Counseling session prior to testing
- Prepare a detailed pedigree chart of family members affected with similar symptoms
- Discuss testing implications and potential outcomes with our genetic counselors
- Ensure proper sample collection according to our guidelines
Nationwide Availability
We have branches conveniently located across the United States, serving patients in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our state-of-the-art facilities ensure consistent, high-quality testing standards nationwide.
Take Action Today
Don’t let uncertainty about metabolic symptoms affect your quality of life. Our OXCT1 Gene Deficiency DNA Test provides the clarity you need for proper diagnosis and management. With our special discounted price of $500 USD, now is the perfect time to take control of your health.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your test or speak with our genetic specialists. Our team is ready to answer your questions and guide you through the testing process.
Early detection through genetic testing can make a significant difference in managing metabolic disorders effectively. Trust our expertise in genetic diagnostics to provide you with accurate, reliable results and comprehensive support throughout your healthcare journey.
