CA5A Gene Hyperammonemia Due to Carbonic Anhydrase VA Deficiency NGS Genetic DNA Test
Understanding CA5A Gene Hyperammonemia and Carbonic Anhydrase VA Deficiency
Carbonic anhydrase VA deficiency is a rare inherited metabolic disorder caused by mutations in the CA5A gene, which plays a critical role in the urea cycle and ammonia detoxification. This condition leads to hyperammonemia, where toxic levels of ammonia accumulate in the bloodstream, potentially causing severe neurological damage and metabolic crises. Our advanced NGS Genetic DNA Test provides comprehensive analysis of the CA5A gene to identify pathogenic variants responsible for this life-threatening condition.
What Does the CA5A Gene Hyperammonemia Test Detect?
This sophisticated genetic test utilizes next-generation sequencing technology to thoroughly examine the CA5A gene for mutations that disrupt carbonic anhydrase VA enzyme function. The test specifically identifies:
- Point mutations and small insertions/deletions in the CA5A gene
- Missense, nonsense, and frameshift variants affecting enzyme activity
- Genetic alterations that impair ammonia metabolism pathways
- Inheritance patterns through comprehensive variant analysis
Who Should Consider CA5A Gene Testing?
This genetic test is recommended for individuals presenting with symptoms suggestive of hyperammonemia or carbonic anhydrase VA deficiency, including:
- Infants and children with unexplained neurological symptoms
- Patients experiencing recurrent vomiting, lethargy, or irritability
- Individuals with developmental delays or intellectual disability
- Those with family history of metabolic disorders or hyperammonemia
- Patients with unexplained metabolic acidosis or alkalosis
- Individuals experiencing seizures or altered consciousness
Key Benefits of CA5A Genetic Testing
Undergoing CA5A gene analysis provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out carbonic anhydrase VA deficiency with high precision
- Personalized Treatment: Guides targeted therapeutic interventions and dietary management
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Enables prompt treatment to prevent neurological damage
- Comprehensive Analysis: Utilizes advanced NGS technology for thorough genetic assessment
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your CA5A gene test results:
- Positive Result: Indicates the presence of pathogenic variants in the CA5A gene, confirming carbonic anhydrase VA deficiency diagnosis
- Negative Result: Suggests no disease-causing mutations were detected, though clinical correlation is essential
- Variant of Uncertain Significance: Requires additional family studies and clinical evaluation
- Carrier Status: Identifies individuals who carry one copy of the mutated gene
All results include comprehensive genetic counseling to help you understand the implications and next steps.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | CA5A Gene Hyperammonemia Due to Carbonic Anhydrase VA Deficiency 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 |
Nationwide Testing Availability
We provide comprehensive genetic testing services across the United States with convenient locations in all 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 healthcare professionals ensures accessible care regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about metabolic disorders affect your quality of life. Our CA5A Gene Hyperammonemia Test provides the clarity needed for proper diagnosis and management. Early detection through genetic testing can significantly improve outcomes and prevent serious complications associated with carbonic anhydrase VA deficiency.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our team is ready to assist you with comprehensive pre-test guidance and answer all your questions about the testing process.
