AASS Gene Hyperlysinemia Type 1 NGS Genetic DNA Test
Comprehensive Genetic Screening for Metabolic Health
The AASS Gene Hyperlysinemia Type 1 NGS Genetic DNA Test represents a breakthrough in precision medicine for metabolic disorders. This advanced diagnostic tool utilizes Next-Generation Sequencing technology to identify mutations in the AASS gene, which encodes the enzyme alpha-aminoadipic semialdehyde synthase. This enzyme plays a crucial role in the lysine degradation pathway, and its deficiency leads to Hyperlysinemia Type 1 – a rare inherited metabolic condition affecting amino acid metabolism.
What This Test Measures and Detects
Our comprehensive NGS genetic test specifically targets:
- Complete sequencing of the AASS gene to identify pathogenic variants
- Detection of single nucleotide polymorphisms (SNPs) affecting enzyme function
- Identification of insertions, deletions, and copy number variations
- Assessment of genetic markers associated with lysine metabolism disruption
- Evaluation of inherited patterns through family genetic analysis
Who Should Consider This Genetic Test
This specialized genetic screening is recommended for individuals experiencing:
- Unexplained neurological symptoms including seizures or developmental delays
- Family history of Hyperlysinemia Type 1 or related metabolic disorders
- Elevated lysine levels detected in newborn screening or metabolic panels
- Unexplained intellectual disability or learning difficulties
- Consanguineous parents or family members with metabolic conditions
- Planning pregnancy with known family history of metabolic disorders
Key Benefits of AASS Gene Testing
Undergoing this comprehensive genetic assessment provides numerous advantages:
- Early Diagnosis: Enables prompt intervention and management strategies
- Personalized Treatment: Guides dietary modifications and therapeutic approaches
- Family Planning: Provides crucial information for reproductive decisions
- Proactive Monitoring: Facilitates regular health surveillance and preventive care
- Genetic Counseling: Supports informed decision-making for affected families
- Research Contribution: Advances understanding of rare metabolic conditions
Understanding Your Test Results
Our comprehensive genetic report includes:
- Positive Result: Indicates presence of AASS gene mutations associated with Hyperlysinemia Type 1. Our genetic counselors will provide detailed guidance on management strategies, dietary recommendations, and family screening options.
- Negative Result: Suggests no detected mutations in the AASS gene. However, clinical correlation with symptoms and additional metabolic testing may be recommended.
- Variant of Uncertain Significance: Some genetic changes may require further investigation and family studies to determine clinical relevance.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | AASS Gene Hyperlysinemia Type 1 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood |
| Testing Method | Next-Generation Sequencing (NGS) |
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 genetic counselors and medical professionals ensures consistent, high-quality care regardless of your location.
Take Control of Your Metabolic Health Today
Don’t let uncertainty about genetic metabolic conditions affect your health decisions. Our AASS Gene Hyperlysinemia Type 1 NGS Genetic DNA Test provides the clarity and confidence you need for informed healthcare planning. With our discounted price of $500 USD and comprehensive genetic counseling support, you’re investing in your long-term metabolic health and family wellbeing.
Ready to schedule your genetic screening? Contact our dedicated genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions, discuss pre-test requirements, and guide you through the entire testing process with compassion and expertise.
