CPS1 Gene Carbamoylphosphate Synthetase I Deficiency NGS Genetic DNA Test
Comprehensive Genetic Screening for Urea Cycle Disorders
The CPS1 Gene Carbamoylphosphate Synthetase I Deficiency NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying one of the most critical urea cycle disorders affecting metabolic health. Carbamoylphosphate synthetase I deficiency is an autosomal recessive condition that disrupts the body’s ability to process ammonia, leading to potentially life-threatening complications if left undiagnosed. Our advanced next-generation sequencing technology provides unparalleled accuracy in detecting CPS1 gene mutations, offering families and healthcare providers essential information for proactive medical management.
What This Test Measures and Detects
This specialized genetic test utilizes next-generation sequencing (NGS) technology to comprehensively analyze the CPS1 gene for pathogenic variants associated with carbamoylphosphate synthetase I deficiency. The test specifically identifies:
- Point mutations, deletions, and insertions in the CPS1 gene
- Variants affecting enzyme function in the urea cycle
- Genetic markers associated with ammonia metabolism disorders
- Inheritance patterns for family planning considerations
- Risk assessment for future metabolic episodes
Who Should Consider This Important Genetic Test
This test is particularly recommended for individuals presenting with symptoms suggestive of urea cycle disorders or those with family history of metabolic conditions. Key indications include:
- Infants and children with unexplained lethargy, vomiting, or feeding difficulties
- Patients experiencing recurrent episodes of hyperammonemia
- Individuals with developmental delays or neurological symptoms
- Family members of diagnosed CPS1 deficiency patients
- Newborns with abnormal newborn screening results
- Patients with unexplained metabolic acidosis or alkalosis
- Individuals planning pregnancy with family history of metabolic disorders
Significant Benefits of CPS1 Genetic Testing
Undergoing CPS1 genetic testing provides numerous advantages for patients and healthcare providers:
- Early Intervention Opportunities: Enables prompt treatment initiation before severe complications develop
- Personalized Treatment Plans: Guides dietary modifications and medication strategies
- Family Planning Guidance: Provides crucial information for reproductive decisions
- Preventive Care Strategies: Helps avoid metabolic crises through proactive management
- Accurate Diagnosis: Eliminates diagnostic uncertainty and enables targeted care
- Improved Quality of Life: Supports better long-term health outcomes through informed management
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your CPS1 test results with clarity and confidence. Results typically fall into these categories:
- Positive Result: Indicates the presence of pathogenic variants in the CPS1 gene, confirming carbamoylphosphate synthetase I deficiency diagnosis
- Negative Result: Suggests no detected mutations in the analyzed regions, though clinical correlation remains important
- Variant of Uncertain Significance: Identifies genetic changes whose clinical impact requires further investigation
- Carrier Status: Reveals whether an individual carries one copy of a mutated gene without showing symptoms
All results are accompanied by detailed explanations and recommendations for next steps, including consultation with metabolic specialists and genetic counselors.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Pre-test Requirements: Clinical History and Genetic Counseling Session
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, San Jose, and many more. Our network of certified genetic counselors and metabolic specialists ensures you receive comprehensive support throughout the testing process.
Take the Next Step Toward Metabolic Health
Don’t let uncertainty about metabolic health concerns impact your quality of life. Our CPS1 Gene Carbamoylphosphate Synthetase I Deficiency NGS Genetic DNA Test provides the clarity and confidence needed for informed healthcare decisions. With our special discounted price of $500 USD, advanced genetic testing is more accessible than ever.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
