ASS1 Gene Citrullinemia NGS Genetic DNA Test
Comprehensive Genetic Analysis for Metabolic Disorders
The ASS1 Gene Citrullinemia NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for metabolic disorders. This advanced test specifically targets the ASS1 gene, which encodes the enzyme argininosuccinate synthase 1, a critical component of the urea cycle. When mutations occur in this gene, they disrupt the body’s ability to properly process ammonia, leading to the accumulation of toxic substances that can cause severe neurological damage and life-threatening complications.
What Does This Test Measure?
Our NGS-based genetic test provides comprehensive analysis of the ASS1 gene to identify:
- Point mutations and single nucleotide variations
- Insertions and deletions affecting gene function
- Copy number variations and structural abnormalities
- Novel genetic variants associated with citrullinemia
- Carrier status for autosomal recessive inheritance patterns
Who Should Consider This Test?
This genetic test is particularly important for individuals experiencing:
- Unexplained neurological symptoms including seizures or lethargy
- Developmental delays in infants and children
- Family history of metabolic disorders or unexplained infant deaths
- Elevated ammonia levels without clear cause
- Feeding difficulties and vomiting in newborns
- Progressive neurological deterioration
- Hyperammonemia episodes requiring medical intervention
Clinical Benefits of Genetic Testing
Early detection through genetic testing provides numerous advantages:
- Enables early intervention and treatment planning
- Facilitates personalized dietary and medical management
- Provides accurate genetic counseling for family planning
- Helps prevent life-threatening hyperammonemia crises
- Supports appropriate emergency care protocols
- Reduces diagnostic uncertainty and medical costs
Understanding Your Test Results
Our comprehensive genetic report includes:
- Detailed analysis of identified genetic variants
- Clinical significance interpretation by certified geneticists
- Inheritance pattern explanation and family implications
- Recommendations for clinical management and follow-up
- Access to genetic counseling services
- Lifetime access to updated interpretations as research evolves
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | ASS1 Gene Citrullinemia NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and next steps
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 cities. Our network of certified collection centers ensures easy access to this vital genetic testing service.
Take Control of Your Genetic Health
Don’t wait to get the answers you need for proper diagnosis and treatment. Our team of genetic specialists is ready to help you understand your genetic profile and develop an appropriate management plan. Early detection of citrullinemia can significantly improve quality of life and prevent serious complications.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your ASS1 Gene Citrullinemia NGS Genetic DNA Test and take the first step toward comprehensive genetic health management.
