OTC Gene Ornithine Transcarbamoylase Deficiency NGS Genetic DNA Test
Understanding Ornithine Transcarbamoylase Deficiency
Ornithine transcarbamoylase (OTC) deficiency represents one of the most common urea cycle disorders, affecting the body’s ability to process and eliminate ammonia. This X-linked genetic condition primarily impacts males, though females can also exhibit symptoms due to skewed X-chromosome inactivation. The OTC gene provides instructions for producing the ornithine transcarbamoylase enzyme, which plays a critical role in the urea cycle—the primary pathway for removing excess nitrogen from the body.
What Our Advanced NGS Test Detects
Our comprehensive OTC Gene NGS Genetic DNA Test utilizes state-of-the-art next-generation sequencing technology to identify mutations in the OTC gene located on the X chromosome. The test specifically examines:
- Point mutations affecting enzyme function
- Small insertions and deletions disrupting gene structure
- Large deletions or duplications affecting gene dosage
- Regulatory region variations impacting gene expression
- Novel mutations not previously documented
Clinical Significance of OTC Deficiency
OTC deficiency disrupts the urea cycle’s second step, leading to toxic ammonia accumulation in the bloodstream. This condition can manifest as acute hyperammonemic crises, which may cause irreversible neurological damage or prove fatal if not promptly treated. Early detection through genetic testing enables timely intervention and prevents potential life-threatening complications.
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with:
- Unexplained neurological symptoms including lethargy, vomiting, or coma
- Developmental delays or intellectual disability of unknown origin
- Family history of urea cycle disorders or sudden infant death
- Protein intolerance or aversion to high-protein foods
- Unexplained hyperammonemia or abnormal liver function tests
- Female carriers with mild symptoms or biochemical abnormalities
- Newborns with suspected metabolic disorders
Benefits of Early Genetic Testing
Undergoing OTC gene testing provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out OTC deficiency with high precision
- Personalized Treatment: Enables tailored dietary and medical management
- Family Planning: Provides crucial information for genetic counseling
- Preventive Care: Helps prevent hyperammonemic crises through early intervention
- Improved Outcomes: Early detection significantly enhances long-term prognosis
- Carrier Identification: Identifies asymptomatic female carriers for family planning
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Indicates the presence of OTC gene mutation(s) associated with deficiency. Our genetic counselors will explain the implications and recommend appropriate management strategies.
- Negative Result: Suggests no detectable mutations in the OTC gene, though clinical correlation with symptoms remains essential.
- Variant of Uncertain Significance: Some genetic changes may require additional family studies for proper interpretation.
- Carrier Status: For females, results indicate carrier status and potential risk to offspring.
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| OTC Gene Ornithine Transcarbamoylase Deficiency NGS Genetic DNA Test | $700 |
| Discount Price | $500 |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all 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, reliable results regardless of your location.
Take Control of Your Genetic Health Today
Don’t wait for symptoms to escalate. Early detection of OTC deficiency can be life-saving. Our experienced genetic counselors are available to discuss your concerns and guide you through the testing process. Contact us now to schedule your appointment and take the first step toward understanding your genetic health.
Call or WhatsApp: +1(267) 388-9828 to book your OTC Gene Ornithine Transcarbamoylase Deficiency NGS Genetic DNA Test today. Our dedicated team is ready to assist you with compassionate care and expert guidance.
