ASL Gene Argininosuccinic Aciduria NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The ASL Gene Argininosuccinic Aciduria NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for metabolic disorders. This advanced test specifically targets mutations in the ASL (argininosuccinate lyase) gene, which plays a critical role in the urea cycle – the body’s primary mechanism for removing toxic ammonia from the bloodstream. When the ASL gene functions improperly, it leads to argininosuccinic aciduria, a serious inherited metabolic condition that can cause life-threatening complications if left undiagnosed.
What This Test Measures and Detects
Our NGS-based genetic test provides comprehensive analysis of the ASL gene to identify pathogenic variants that cause argininosuccinic aciduria. The test specifically detects:
- Point mutations, deletions, and insertions in the ASL gene
- Single nucleotide variants (SNVs) affecting enzyme function
- Copy number variations (CNVs) that may disrupt gene expression
- Novel genetic variants with potential clinical significance
- Inheritance patterns through family genetic analysis
Who Should Consider This Test
This genetic test is recommended for individuals displaying symptoms or risk factors associated with urea cycle disorders:
- Newborns with unexplained hyperammonemia (elevated blood ammonia levels)
- Infants experiencing feeding difficulties, vomiting, or lethargy
- Children with developmental delays or neurological symptoms
- Patients with family history of metabolic disorders
- Individuals with elevated argininosuccinic acid in urine tests
- Parents planning pregnancy with known family history of urea cycle disorders
- Siblings of diagnosed patients for carrier status determination
Key Benefits of ASL Gene Testing
Early genetic testing provides numerous advantages for patients and families:
- Early Intervention: Enables prompt treatment before serious complications develop
- Accurate Diagnosis: Provides definitive confirmation of argininosuccinic aciduria
- Personalized Treatment: Guides dietary management and medication strategies
- Family Planning: Informs reproductive decisions and genetic counseling
- Prognostic Information: Helps predict disease severity and progression
- Preventive Care: Allows monitoring and prevention of metabolic crises
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information:
- Positive Result: Indicates presence of pathogenic ASL gene mutations confirming argininosuccinic aciduria diagnosis
- Negative Result: Suggests absence of known disease-causing mutations in the ASL gene
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Determines if an individual carries one copy of a mutated gene
All results include detailed interpretation by our certified genetic counselors, who provide personalized recommendations for next steps and management strategies.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | ASL Gene Argininosuccinic Aciduria 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
To ensure accurate results and comprehensive care, we recommend:
- Complete clinical history of the patient
- Genetic counseling session to create family pedigree chart
- Documentation of affected family members
- Previous metabolic test results if available
Nationwide Accessibility
We have diagnostic centers conveniently located across the United States, serving patients 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 ensures that quality genetic testing is accessible to everyone nationwide.
Take Control of Your Genetic Health Today
Don’t wait for symptoms to escalate. Early detection of argininosuccinic aciduria through ASL gene testing can significantly improve treatment outcomes and quality of life. Our team of genetic specialists and metabolic disorder experts are ready to guide you through the testing process and provide comprehensive support.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your ASL Gene Argininosuccinic Aciduria NGS Genetic DNA Test and take the first step toward understanding your genetic health.
Our dedicated genetic counselors are available to answer your questions, discuss insurance coverage options, and help you prepare for testing. With our state-of-the-art NGS technology and experienced medical team, you can trust General Genetics Corporation for accurate, reliable genetic testing results.
