GAA Gene Glycogen Storage Disease Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Pompe Disease
The GAA Gene Glycogen Storage Disease Type 2 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for Pompe disease, a rare inherited metabolic disorder. This sophisticated test utilizes next-generation sequencing technology to analyze the GAA gene, which encodes the enzyme acid alpha-glucosidase. When this enzyme is deficient, glycogen accumulates in muscle cells, leading to progressive muscle weakness and potentially life-threatening complications.
What This Test Measures and Detects
This advanced genetic test specifically targets the GAA gene located on chromosome 17q25.3, examining all 20 exons and flanking regions for:
- Point mutations, insertions, and deletions in the GAA gene
- Pathogenic variants associated with infantile-onset and late-onset Pompe disease
- Carrier status identification for family planning purposes
- Specific mutation patterns that correlate with disease severity and progression
- Genetic markers that influence treatment response to enzyme replacement therapy
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with symptoms suggestive of Pompe disease or those with a family history of the condition:
- Infants experiencing feeding difficulties, poor weight gain, and muscle weakness
- Children with delayed motor milestones and progressive muscle deterioration
- Adults with unexplained progressive muscle weakness, particularly in legs and trunk
- Individuals with respiratory difficulties without clear pulmonary causes
- Patients with elevated creatine kinase levels and muscle biopsy showing glycogen accumulation
- Family members of diagnosed Pompe disease patients seeking carrier status
Key Benefits of Genetic Testing
Early genetic testing for Pompe disease provides numerous advantages:
- Early Intervention: Enables prompt initiation of enzyme replacement therapy
- Accurate Diagnosis: Provides definitive confirmation of Pompe disease
- Family Planning: Identifies carrier status for informed reproductive decisions
- Treatment Guidance: Helps tailor enzyme replacement therapy protocols
- Prognostic Information: Certain mutations correlate with disease severity
- Peace of Mind: Resolves diagnostic uncertainty and enables proactive management
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our certified genetic counselors:
- Positive Result: Indicates pathogenic mutations in the GAA gene confirming Pompe disease diagnosis
- Carrier Status: Identifies individuals with one mutated copy who can pass the condition to offspring
- Negative Result: No disease-causing mutations detected, though clinical correlation is essential
- Variant of Uncertain Significance: Genetic changes with unclear clinical implications requiring further evaluation
All results include comprehensive genetic counseling to ensure proper understanding and next steps.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | GAA Gene Glycogen Storage Disease Type 2 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
Before scheduling your genetic test, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to discuss implications and create family pedigree
- Review of potential psychological impacts of genetic testing
- Discussion of insurance coverage and financial considerations
Nationwide Accessibility
GGC DNA maintains testing facilities across the United States, ensuring convenient access to this vital genetic testing service. Our network includes specialized collection centers in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Each location follows standardized protocols to ensure consistent, high-quality sample collection and processing.
Take Control of Your Genetic Health Today
Don’t let uncertainty about Pompe disease affect your quality of life. Our comprehensive genetic testing provides the clarity needed for informed medical decisions and proactive health management. With our discounted pricing and nationwide accessibility, advanced genetic testing has never been more accessible.
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.
