ARG1 Gene Arginase Deficiency NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The ARG1 Gene Arginase Deficiency NGS Genetic DNA Test represents a breakthrough in precision medicine for diagnosing rare inherited metabolic conditions. This advanced diagnostic tool utilizes cutting-edge Next-Generation Sequencing (NGS) technology to analyze the ARG1 gene, which plays a critical role in the urea cycle – the body’s primary mechanism for eliminating toxic ammonia.
What Does This Test Measure?
This comprehensive genetic test specifically targets and sequences the entire ARG1 gene to identify pathogenic variants that cause arginase deficiency. The test detects:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations
- Splice site mutations affecting gene function
- Novel genetic variants associated with urea cycle disorders
Who Should Consider This Test?
This test is recommended for individuals presenting with symptoms suggestive of urea cycle disorders or those with concerning family history:
- Infants and children with developmental delays or regression
- Individuals experiencing progressive spastic diplegia or quadriplegia
- Patients with recurrent episodes of hyperammonemia
- Children showing failure to thrive or growth retardation
- Individuals with seizures of unknown origin
- Those with intellectual disability or learning difficulties
- Family members of diagnosed arginase deficiency patients
- Newborns with abnormal newborn screening results
Key Benefits of ARG1 Genetic Testing
- Early Diagnosis: Enables prompt intervention before irreversible neurological damage occurs
- Personalized Treatment: Guides targeted dietary management and medication strategies
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Disease Monitoring: Helps track disease progression and treatment effectiveness
- Comprehensive Analysis: NGS technology offers superior detection rates compared to traditional methods
Understanding Your Test Results
Your genetic test report will provide detailed information about any identified ARG1 gene mutations:
- Positive Result: Indicates the presence of pathogenic variants confirming arginase deficiency diagnosis
- Negative Result: Suggests no disease-causing mutations were detected in the ARG1 gene
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unclear clinical impact requiring further evaluation
- Carrier Status: Determines if you carry one copy of a mutated gene, important for family planning
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have diagnostic centers conveniently located across major cities throughout the United States, including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure accurate sample collection and processing with results typically available within 3-4 weeks.
Take Control of Your Health Today
Don’t wait to get the answers you need about potential metabolic disorders. Early detection through ARG1 genetic testing can significantly impact treatment outcomes and quality of life. Our experienced genetic counselors are available to discuss your results and provide comprehensive guidance.
Ready to schedule your test? Call us today at +1(267) 388-9828 or book your appointment online. Take the first step toward accurate diagnosis and personalized care.
