AASS Gene Saccharopinuria NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The AASS Gene Saccharopinuria NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying rare metabolic disorders through advanced genetic analysis. This specialized test focuses on detecting mutations in the AASS (aminoadipic semialdehyde synthase) gene, which plays a crucial role in lysine metabolism pathways. Saccharopinuria, the condition associated with AASS gene mutations, is an inherited metabolic disorder that can significantly impact neurological development and overall health.
What This Test Measures and Detects
Our NGS-based genetic test provides comprehensive analysis of the AASS gene to identify:
- Pathogenic variants and mutations in the AASS gene
- Single nucleotide polymorphisms (SNPs) affecting enzyme function
- Deletions, insertions, and other structural variations
- Compound heterozygous mutations
- Autosomal recessive inheritance patterns
Who Should Consider This Test
This genetic test is particularly recommended for individuals presenting with:
- Unexplained developmental delays in infancy or childhood
- Neurological symptoms including seizures or movement disorders
- Metabolic acidosis or abnormal organic acid profiles
- Family history of metabolic disorders or consanguineous parents
- Elevated saccharopine levels in urine or plasma
- Progressive neurological deterioration without clear diagnosis
Key Benefits of Genetic Testing
Undergoing the AASS Gene Saccharopinuria test offers numerous advantages:
- Accurate Diagnosis: Provides definitive identification of genetic causes for symptoms
- Early Intervention: Enables timely treatment and management strategies
- Family Planning: Assists in understanding inheritance risks for future generations
- Personalized Care: Guides development of targeted therapeutic approaches
- Peace of Mind: Reduces diagnostic uncertainty and unnecessary testing
Understanding Your Test Results
Our comprehensive genetic counseling service helps you interpret your results:
- Positive Result: Indicates presence of pathogenic AASS gene mutations confirming saccharopinuria diagnosis
- Negative Result: Suggests absence of detectable mutations in the AASS gene
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Detects individuals with single mutation who may pass the condition to offspring
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
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 genetic counselors and medical professionals ensures consistent, high-quality care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about metabolic symptoms affect your quality of life. Our AASS Gene Saccharopinuria NGS Genetic DNA Test provides the answers you need for informed medical decisions. With results available in 3-4 weeks and comprehensive genetic counseling included, you’ll receive the expert guidance necessary to understand your genetic health.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take control of your genetic health with America’s leading metabolic genetics testing provider.
