AGA Gene Aspartylglucosaminuria NGS Genetic DNA Test
Comprehensive Genetic Screening for Metabolic Disorders
The AGA Gene Aspartylglucosaminuria NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic conditions. Aspartylglucosaminuria is an autosomal recessive lysosomal storage disorder caused by mutations in the AGA gene, which encodes the enzyme aspartylglucosaminidase. This essential enzyme plays a critical role in breaking down glycoproteins within lysosomes, and its deficiency leads to the accumulation of aspartylglucosamine and related compounds, causing progressive neurological deterioration and multisystem complications.
What This Advanced Test Detects
Our NGS-based genetic test specifically targets and sequences the entire AGA gene to identify pathogenic variants responsible for aspartylglucosaminuria. The test examines:
- Point mutations affecting enzyme function
- Insertions and deletions disrupting gene structure
- Splice site variants impacting protein production
- Regulatory region mutations affecting gene expression
Who Should Consider This Genetic Test?
This comprehensive genetic screening is particularly recommended for individuals presenting with:
- Unexplained developmental delays in early childhood
- Progressive intellectual disability
- Characteristic coarse facial features
- Recurrent infections and immune system abnormalities
- Family history of lysosomal storage disorders
- Siblings of diagnosed individuals for carrier status
- Couples with family history planning pregnancy
Clinical Symptoms Indicating Testing
Patients typically manifest symptoms during early childhood, including delayed speech development, behavioral changes, and gradual loss of previously acquired skills. Physical examination may reveal thickened skin, joint laxity, and skeletal abnormalities. Early diagnosis through genetic testing enables timely intervention and management strategies.
Significant Benefits of Early Detection
Undergoing the AGA Gene Aspartylglucosaminuria NGS Genetic DNA Test provides numerous advantages:
- Definitive Diagnosis: Eliminates diagnostic uncertainty and enables accurate disease classification
- Family Planning Guidance: Provides crucial information for reproductive decisions and genetic counseling
- Early Intervention: Facilitates prompt initiation of supportive therapies and management protocols
- Prognostic Information: Helps anticipate disease progression and potential complications
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling service helps interpret your results with clarity:
- Positive Result: Indicates presence of pathogenic variants confirming diagnosis; enables targeted management
- Negative Result: Suggests low probability of aspartylglucosaminuria; other conditions may need evaluation
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with one mutated allele who can pass the condition to offspring
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | AGA Gene Aspartylglucosaminuria 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 |
Nationwide Accessibility
We maintain comprehensive testing facilities across major metropolitan areas throughout the United States, including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures convenient access to advanced genetic testing regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your family’s future. Our AGA Gene Aspartylglucosaminuria NGS Genetic DNA Test provides the clarity and confidence you need for informed healthcare decisions. With specialized genetic counseling included and results delivered within 3-4 weeks, you’ll receive comprehensive support throughout your diagnostic journey.
Schedule your appointment now by calling our genetic specialists at +1(267) 388-9828 or book online through our secure patient portal. Early detection makes a significant difference in managing metabolic disorders effectively.
