ASNS Gene Asparagine Synthetase Deficiency NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The ASNS Gene Asparagine Synthetase Deficiency NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic conditions. Asparagine synthetase deficiency is an autosomal recessive disorder caused by mutations in the ASNS gene, leading to severe neurological complications and developmental challenges. This advanced testing methodology provides crucial insights for accurate diagnosis and personalized treatment approaches.
What Does This Test Measure?
Our comprehensive NGS genetic test specifically targets the ASNS gene located on chromosome 7q21.3, which encodes the enzyme asparagine synthetase. This test detects:
- Point mutations and single nucleotide variants
- Insertions and deletions in the ASNS gene
- Copy number variations affecting gene function
- Pathogenic variants disrupting enzyme production
- Genetic markers associated with disease severity
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with symptoms suggestive of asparagine synthetase deficiency, including:
- Infants and children with progressive microcephaly
- Patients experiencing developmental delays and intellectual disability
- Individuals with treatment-resistant seizures or epileptic encephalopathy
- Children showing spastic quadriplegia or hypertonia
- Patients with abnormal brain imaging findings
- Families with history of unexplained infant mortality
- Siblings of diagnosed patients for carrier screening
Clinical Benefits of Early Detection
Early diagnosis through our ASNS gene testing provides numerous advantages:
- Enables prompt intervention and management strategies
- Facilitates genetic counseling for family planning
- Guides appropriate nutritional and therapeutic approaches
- Reduces diagnostic odyssey and unnecessary testing
- Provides accurate prognosis and disease progression information
- Supports enrollment in clinical trials and research studies
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Identifies pathogenic variants confirming diagnosis, enabling targeted management and family screening
- Negative Result: No disease-causing mutations detected, suggesting alternative diagnoses may need consideration
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with single mutation copies for reproductive planning
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | ASNS Gene Asparagine Synthetase 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
To ensure accurate results, we recommend:
- Complete clinical history documentation
- Genetic counseling session prior to testing
- Family pedigree chart development
- Discussion of testing implications with healthcare provider
- Informed consent process completion
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York City, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, high-quality testing results regardless of location.
Take Control of Your Genetic Health
Don’t let uncertainty about metabolic disorders affect your family’s future. Our ASNS Gene Asparagine Synthetase Deficiency NGS Genetic DNA Test provides the clarity needed for informed medical decisions. Early detection can significantly impact treatment outcomes and quality of life.
Ready to schedule your genetic 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.
