GAA Gene Pompe Disease NGS Genetic DNA Test
Comprehensive Genetic Testing for Pompe Disease
The GAA Gene Pompe Disease NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for individuals at risk of Pompe disease, a rare inherited metabolic disorder affecting muscle function and respiratory capacity. This advanced genetic analysis utilizes cutting-edge next-generation sequencing technology to provide comprehensive mutation detection in the GAA gene, enabling accurate diagnosis and informed medical decision-making.
What is Pompe Disease?
Pompe disease, also known as glycogen storage disease type II, is an autosomal recessive disorder caused by mutations in the GAA gene. This gene provides instructions for producing acid alpha-glucosidase, an enzyme essential for breaking down glycogen in lysosomes. When this enzyme is deficient or absent, glycogen accumulates in muscle cells, leading to progressive muscle weakness and potentially life-threatening respiratory complications.
What the Test Measures and Detects
Our comprehensive NGS genetic test specifically targets the GAA gene to identify:
- Pathogenic mutations responsible for Pompe disease
- Carrier status for autosomal recessive inheritance
- Specific variant types including missense, nonsense, frameshift, and splice-site mutations
- Deep intronic variants that may affect gene expression
- Copy number variations and large deletions/duplications
Advanced NGS Technology
Utilizing state-of-the-art next-generation sequencing, our test provides unparalleled accuracy in detecting genetic variations across the entire GAA gene coding region, including exons, intron-exon boundaries, and regulatory regions. This comprehensive approach ensures maximum detection sensitivity for both common and rare mutations.
Who Should Consider This Test
Genetic testing for Pompe disease is recommended for individuals experiencing:
- Progressive muscle weakness, particularly in the legs and trunk
- Respiratory difficulties without clear cause
- Elevated creatine kinase levels
- Family history of Pompe disease or unexplained muscle disorders
- Infants with feeding difficulties, poor weight gain, and muscle weakness
- Adults with slowly progressive limb-girdle weakness
- Individuals with cardiomyopathy or respiratory insufficiency of unknown origin
Family Planning Considerations
Couples with a family history of Pompe disease should consider carrier screening to assess their risk of having affected children. Early identification allows for informed reproductive decisions and appropriate medical planning.
Benefits of Genetic Testing for Pompe Disease
- Early Diagnosis: Enables timely intervention and treatment initiation
- Accurate Prognosis: Provides insight into disease progression and severity
- Family Planning: Informs reproductive decisions and genetic counseling
- Treatment Guidance: Supports enzyme replacement therapy decisions
- Peace of Mind: Reduces uncertainty and facilitates proactive healthcare management
- Clinical Trial Eligibility: May qualify patients for emerging treatment options
Understanding Your Test Results
Our comprehensive genetic counseling service helps you interpret your results:
Positive Result
A positive result indicates the presence of pathogenic mutations in the GAA gene. This confirms a diagnosis of Pompe disease or identifies carrier status. Our genetic counselors will explain the implications for your health and provide guidance on next steps, including treatment options and family testing recommendations.
Negative Result
A negative result suggests that no known pathogenic mutations were detected in the GAA gene. However, this does not completely rule out Pompe disease, as rare or novel mutations may not be identified by current testing methods. Clinical correlation with symptoms and additional diagnostic testing may be recommended.
Variant of Uncertain Significance
Some genetic changes may be classified as variants of uncertain significance (VUS). These are genetic alterations whose clinical significance is not yet established. Our team monitors scientific literature and may recommend follow-up testing as new information becomes available.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | GAA Gene Pompe Disease NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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 testing and comprehensive care, we require:
- Complete clinical history of the patient
- Genetic counseling session to discuss testing implications
- Development of a pedigree chart documenting family members affected by Pompe disease
- Informed consent understanding the benefits and limitations of genetic testing
Nationwide Testing Availability
GGC DNA provides comprehensive genetic testing services across the United States, with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network of certified collection centers ensures accessible testing for patients nationwide.
Take Control of Your Genetic Health
Early detection of Pompe disease through genetic testing can significantly impact treatment outcomes and quality of life. Our expert team of genetic counselors and medical professionals is dedicated to providing comprehensive support throughout your testing journey.
Ready to Schedule Your Test?
Take the first step toward understanding your genetic health. Contact our dedicated genetic testing specialists today to schedule your GAA Gene Pompe Disease NGS Genetic DNA Test.
Call or WhatsApp: +1(267) 388-9828
Our genetic counselors are available to answer your questions and help you understand the testing process, results interpretation, and next steps for your healthcare journey.
Disclaimer: Genetic testing results should be interpreted in consultation with qualified healthcare providers. This test is intended for diagnostic purposes and should be used in conjunction with clinical evaluation.
