Gaucher Disease Quantitative Blood Test
Introduction
The Gaucher Disease Quantitative Blood Test is a vital diagnostic tool used to detect Gaucher disease, a genetic disorder resulting from the deficiency of the enzyme glucocerebrosidase. This enzyme is crucial for the breakdown of certain fats in the body. When it is deficient, harmful substances can accumulate, leading to various health complications. Early detection through this test is essential for effective management and treatment of the disease.
What the Test Measures
This test measures the activity level of glucocerebrosidase in the blood. Low levels of this enzyme indicate a higher likelihood of Gaucher disease, allowing for timely intervention.
Who Should Consider This Test?
Individuals who may benefit from this test include:
- Those with a family history of Gaucher disease
- Individuals presenting symptoms such as unexplained bone pain, fatigue, or splenomegaly (enlarged spleen)
- Patients with a known diagnosis of Gaucher disease requiring enzyme activity monitoring
Benefits of Taking the Test
- Early diagnosis of Gaucher disease can lead to more effective management strategies.
- Understanding enzyme levels helps healthcare providers tailor treatment plans.
- It provides peace of mind for patients and families regarding genetic health risks.
Understanding Your Results
Results from the Gaucher Disease Quantitative Blood Test will indicate the level of glucocerebrosidase activity. Generally, normal enzyme levels suggest a lower risk of Gaucher disease, while low enzyme activity may necessitate further evaluation and potential treatment options. Always consult with your healthcare provider to interpret your results accurately.
Test Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
Gaucher Disease Quantitative Blood Test | 70,000 NGN | 100,000 NGN |
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To ensure proper testing, please note the following:
– Sample Type: 10 mL (7.5 mL min.) whole blood in 3 Lavender Top (EDTA) OR Green Top (Sodium heparin) tubes. Ship refrigerated. DO NOT FREEZE. Clinical details must accompany the sample.
– Turnaround Time: Sample collected daily by 4 PM; report available in 4 days.
For any inquiries or to book the Gaucher Disease Quantitative Blood Test, please call or WhatsApp us at +2348077798758. Your health is our priority at DNA Labs Nigeria!