Gaucher Disease Quantitative Blood Test
Introduction to Gaucher Disease
The Gaucher Disease Quantitative Blood Test is a vital diagnostic tool used to assess Gaucher disease, a rare genetic disorder caused by the deficiency of the enzyme glucocerebrosidase. This deficiency leads to the accumulation of fatty substances in certain organs, particularly the spleen and liver, which can result in serious health complications.
What the Test Measures
This test quantitatively measures the activity of glucocerebrosidase in the blood, which is essential for the breakdown of complex lipids. A low level of this enzyme indicates the presence of Gaucher disease.
Who Should Consider This Test
Individuals who may consider this test include:
- Those with a family history of Gaucher disease.
- Patients presenting symptoms such as an enlarged spleen or liver, bone pain, or fatigue.
- Individuals of Ashkenazi Jewish descent, as they have a higher prevalence of this condition.
Benefits of Taking the Test
Taking the Gaucher Disease Quantitative Blood Test offers several benefits:
- Early detection of Gaucher disease can lead to timely intervention and better management of the condition.
- Understanding enzyme levels can help healthcare providers tailor treatment plans specific to the patient’s needs.
- It aids in genetic counseling for families affected by Gaucher disease.
Understanding Your Results
Results from the Gaucher Disease Quantitative Blood Test will indicate the level of glucocerebrosidase activity:
- Normal levels suggest no deficiency.
- Low levels indicate a potential diagnosis of Gaucher disease, and further testing may be recommended.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Gaucher Disease Quantitative Blood Test | 7000 KSh | 10000 KSh |
Sample Collection and Instructions
The sample required for this test is 10 mL (7.5 mL min.) whole blood, collected in 3 Lavender Top (EDTA) or Green Top (Sodium heparin) tubes. Samples must be shipped refrigerated and should not be frozen. Clinical details must accompany the sample for accurate testing.
Availability
We have branches across all major cities in Kenya, providing convenient access to this essential test. For those unable to visit our facilities, we also offer home sample collection services.
Book Your Test Today!
Don’t wait to understand your health better. Book the Gaucher Disease Quantitative Blood Test today by calling or WhatsApping us at +254711564616.
