Gaucher Disease Quantitative Blood Test
Understanding Gaucher Disease and Diagnostic Testing
Gaucher Disease Quantitative Blood Test represents a crucial diagnostic tool for identifying one of the most common lysosomal storage disorders affecting individuals worldwide. This specialized enzyme assay provides precise measurement of glucocerebrosidase activity, the enzyme deficient in Gaucher disease patients. As an inherited metabolic condition, Gaucher disease results from mutations in the GBA gene, leading to abnormal accumulation of glucocerebroside in cells throughout the body.
What This Test Measures and Detects
The Gaucher Disease Quantitative Blood Test specifically evaluates:
- Glucocerebrosidase enzyme activity levels in blood samples
- Quantitative measurement of enzyme deficiency severity
- Diagnostic confirmation of Gaucher disease types 1, 2, and 3
- Carrier status identification in at-risk populations
- Response monitoring for enzyme replacement therapy
Who Should Consider This Important Test?
Clinical Indications and Symptoms
Individuals experiencing the following symptoms should consider Gaucher Disease Quantitative Blood Testing:
- Unexplained enlargement of the spleen or liver (hepatosplenomegaly)
- Chronic bone pain or frequent fractures
- Easy bruising and abnormal bleeding tendencies
- Persistent fatigue and low blood counts (anemia, thrombocytopenia)
- Growth delays in children and adolescents
- Neurological symptoms including eye movement disorders
- Family history of Gaucher disease or related metabolic disorders
Significant Benefits of Early Detection
Undergoing Gaucher Disease Quantitative Blood Testing offers multiple advantages:
- Early Intervention: Enables prompt treatment initiation before irreversible organ damage occurs
- Accurate Diagnosis: Provides definitive confirmation of Gaucher disease, eliminating diagnostic uncertainty
- Family Planning: Helps identify carrier status for informed reproductive decisions
- Treatment Monitoring: Allows precise tracking of enzyme replacement therapy effectiveness
- Improved Outcomes: Early diagnosis correlates with better long-term health management and quality of life
Understanding Your Test Results
Interpretation Guidelines
Your Gaucher Disease Quantitative Blood Test results will provide valuable insights:
- Normal Enzyme Activity: Typically indicates absence of Gaucher disease
- Reduced Enzyme Activity: Suggests Gaucher disease diagnosis, with severity correlating to activity levels
- Carrier Status: Intermediate enzyme levels may indicate carrier status
- Therapeutic Response: Increasing enzyme activity demonstrates positive response to treatment
Always discuss your specific results with a qualified healthcare provider who can provide personalized interpretation and recommend appropriate next steps based on your clinical presentation and family history.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $88 |
| Regular Price | $126 |
Testing Process Details
- Sample Type: 10 mL (7.5 mL minimum) whole blood in 3 Lavender Top (EDTA) OR Green Top (Sodium heparin) tubes
- Shipping Instructions: Ship refrigerated. DO NOT FREEZE
- Turnaround Time: Sample accepted daily by 4 pm; Report available in 4 days
- Important Note: Clinical details must accompany sample for accurate interpretation
Nationwide Testing Availability
We proudly offer Gaucher Disease Quantitative Blood Testing across our extensive network of diagnostic centers throughout the United States. Our facilities are conveniently located in major metropolitan areas including:
- New York City and surrounding regions
- Los Angeles and Southern California
- Chicago and Midwest locations
- Houston, Dallas, and Texas centers
- Miami, Orlando, and Florida facilities
- Seattle, Portland, and Pacific Northwest clinics
Take Action for Your Health Today
Don’t let uncertainty about potential Gaucher disease symptoms affect your quality of life. Our specialized quantitative blood testing provides the clarity you need for proper diagnosis and treatment planning. With rapid 4-day results and affordable pricing at only $88 USD, there’s no reason to delay this important health assessment.
Ready to schedule your Gaucher Disease Quantitative Blood Test? Contact our dedicated healthcare team today to book your appointment or discuss any questions about the testing process. Call us at +1(267) 388-9828 or visit our website to schedule your test at a location convenient for you.
Early detection through precise enzyme activity measurement can make a significant difference in managing Gaucher disease effectively. Trust our experienced genetic testing specialists to provide accurate, reliable results you can depend on for informed healthcare decisions.
