NAGS Gene N-Acetylglutamate Synthase Deficiency NGS Genetic DNA Test
Understanding N-Acetylglutamate Synthase Deficiency
N-Acetylglutamate Synthase (NAGS) deficiency is a rare autosomal recessive metabolic disorder that disrupts the urea cycle, the body’s primary mechanism for removing toxic ammonia from the bloodstream. This condition results from mutations in the NAGS gene, which encodes the enzyme responsible for producing N-acetylglutamate, an essential activator of carbamoyl phosphate synthetase I. Without proper NAGS function, ammonia accumulates to dangerous levels, potentially causing severe neurological damage, coma, and even death if left untreated.
What This Advanced Genetic Test Detects
Our NAGS Gene NGS Genetic DNA Test utilizes cutting-edge Next-Generation Sequencing technology to comprehensively analyze the entire NAGS gene for pathogenic variants. The test specifically identifies:
- Point mutations, insertions, and deletions in the NAGS gene
- Missense, nonsense, and splice-site variants affecting enzyme function
- Compound heterozygous and homozygous mutations
- Novel genetic variants with potential clinical significance
Clinical Indications and Who Should Consider Testing
This genetic test is recommended for individuals presenting with symptoms suggestive of urea cycle disorders, including:
- Unexplained hyperammonemia in neonates, infants, or children
- Recurrent episodes of vomiting, lethargy, and irritability
- Neurological symptoms such as seizures, ataxia, or developmental delay
- Family history of urea cycle disorders or sudden infant death
- Metabolic crises triggered by protein loading or infections
- Abnormal newborn screening results indicating elevated ammonia levels
Significant Benefits of NAGS Genetic Testing
Early genetic diagnosis through NAGS testing provides numerous clinical advantages:
- Precise Diagnosis: Differentiates NAGS deficiency from other urea cycle disorders
- Targeted Treatment: Enables specific therapy with carbamoyl glutamate (N-carbamylglutamate)
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Preventive Management: Allows for proactive dietary modifications and emergency protocols
- Improved Outcomes: Early intervention prevents neurological damage and life-threatening complications
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information:
- Positive Result: Identifies pathogenic variants confirming NAGS deficiency diagnosis
- Negative Result: No disease-causing mutations detected in the NAGS gene
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Identifies individuals with one copy of a mutated gene
All results include detailed interpretation by our board-certified geneticists and specific recommendations for clinical management.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | NAGS Gene N-Acetylglutamate Synthase 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 |
Pre-Test Requirements
Before testing, we recommend:
- Complete clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of potential implications and treatment options
- Informed consent process explaining benefits and limitations
Nationwide Accessibility
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 collection centers ensures accessible genetic testing for families nationwide.
Take Action for Better Health Outcomes
Don’t wait for symptoms to escalate. Early genetic testing for NAGS deficiency can be life-saving. Our specialized metabolic genetics team is ready to assist you with comprehensive testing, accurate diagnosis, and personalized treatment planning.
Book your NAGS Genetic DNA Test today by calling our dedicated genetics hotline at +1(267) 388-9828 or schedule your appointment online. Take the first step toward precise diagnosis and effective management of urea cycle disorders.
