Pompe Disease Quantitative Blood Test
Understanding Pompe Disease and Diagnostic Testing
Pompe Disease, also known as glycogen storage disease type II, is a rare inherited metabolic disorder caused by deficiency of the acid alpha-glucosidase (GAA) enzyme. This quantitative blood test provides precise measurement of GAA enzyme activity levels, serving as a crucial diagnostic tool for identifying this serious genetic condition that affects muscle function and overall metabolic health.
What This Test Measures and Detects
The Pompe Disease Quantitative Blood Test specifically measures the activity level of acid alpha-glucosidase enzyme in blood samples. This enzyme is essential for breaking down glycogen, a complex sugar stored in cells. When GAA enzyme activity is significantly reduced or absent, glycogen accumulates in lysosomes, particularly affecting muscle cells throughout the body.
- Quantitative measurement of acid alpha-glucosidase enzyme activity
- Detection of enzyme deficiency levels indicative of Pompe disease
- Assessment of glycogen storage disease type II severity
- Differentiation between classic infantile-onset and late-onset forms
Who Should Consider This Test
This diagnostic test is recommended for individuals displaying symptoms suggestive of Pompe disease or those with family history of the condition. Early testing can lead to timely intervention and improved outcomes.
Symptoms and Clinical Indications
- Infants with feeding difficulties, poor weight gain, and muscle weakness
- Children experiencing delayed motor milestones and progressive muscle weakness
- Adults with unexplained progressive muscle weakness, particularly in legs and trunk
- Individuals with breathing difficulties or respiratory insufficiency
- Patients with elevated creatine kinase levels without clear explanation
- Those with family history of Pompe disease or related metabolic disorders
Benefits of Pompe Disease Testing
Early and accurate diagnosis through quantitative blood testing offers numerous advantages for patient care and management.
Key Benefits Include:
- Early Intervention: Enables prompt initiation of enzyme replacement therapy
- Family Planning: Provides genetic counseling information for family members
- Treatment Guidance: Helps determine appropriate therapeutic approaches
- Prognostic Information: Assists in predicting disease progression and outcomes
- Comprehensive Care: Facilitates multidisciplinary management approach
Understanding Your Test Results
Interpreting Pompe Disease Quantitative Blood Test results requires careful consideration of enzyme activity levels and clinical presentation.
Result Interpretation Guidelines
- Normal Range: GAA enzyme activity within reference range typically excludes Pompe disease
- Borderline Results: May require additional testing or genetic confirmation
- Deficient Activity: Significantly reduced enzyme levels strongly suggest Pompe disease
- Clinical Correlation: Results should always be interpreted in context of symptoms and family history
- Follow-up Testing: Abnormal results often warrant genetic testing for confirmation
Test Pricing and Availability
We offer competitive pricing for the Pompe Disease Quantitative Blood Test with convenient scheduling options across our nationwide network.
| Test Description | Price (USD) |
|---|---|
| Pompe Disease Quantitative Blood Test – Discount Price | $100 |
| Pompe Disease Quantitative Blood Test – Regular Price | $170 |
Testing Process Details
- Turnaround Time: Samples accepted daily until 4 PM; Reports available in 4 days
- Sample Requirements: 10 mL (7.5 mL minimum) whole blood from 3 Lavender Top (EDTA) or Green Top (Sodium Heparin) tubes
- Shipping Instructions: Ship refrigerated within 48 hours of collection
- Pre-test Requirements: Clinical history is mandatory for accurate interpretation
Nationwide Testing Availability
We have diagnostic centers conveniently located throughout the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our extensive network ensures accessible testing for patients across the country.
Take Action for Your Metabolic Health
Don’t wait to address concerns about Pompe disease or related metabolic symptoms. Early detection through quantitative blood testing can significantly impact treatment outcomes and quality of life. Our specialized genetic testing services provide the accurate information needed for informed healthcare decisions.
Call us today at +1(267) 388-9828 to schedule your Pompe Disease Quantitative Blood Test or to speak with our genetic counseling specialists. Take the first step toward understanding your metabolic health with our comprehensive diagnostic services.
