GAUCHER DISEASE QUANTITATIVE BLOOD Test
At DNA Labs UAE, we offer the GAUCHER DISEASE QUANTITATIVE BLOOD Test at a cost of AED 440.0.
Test Details
The GAUCHER DISEASE QUANTITATIVE BLOOD Test is a quantitative blood test that measures the levels of a specific enzyme called glucocerebrosidase (GCase) in the blood. This test is used to diagnose and monitor Gaucher disease, a genetic disorder characterized by the deficiency or malfunction of GCase.
To perform this test, a blood sample of 10 mL (with a minimum of 7.5 mL) is required. The sample should be collected in 3 Lavender Top (EDTA) or Green Top (Sodium heparin) tubes. It is important to ship the sample refrigerated and not freeze it. Clinical details must accompany the sample for accurate analysis.
Report Delivery
The sample is processed daily and the report is delivered within 4 days by 4 pm.
Method
The GAUCHER DISEASE QUANTITATIVE BLOOD Test is performed using an enzyme assay.
Test Type
This test falls under the category of inborn errors of metabolism.
Doctor
The GAUCHER DISEASE QUANTITATIVE BLOOD Test is typically ordered by a Pediatrician.
Test Department
This test is conducted in our Genetic department.
Pre Test Information
Clinical details must accompany the sample for accurate analysis.
Additional Information
The GAUCHER DISEASE QUANTITATIVE BLOOD Test is an important tool in the diagnosis and monitoring of Gaucher disease. It measures the activity level of GCase in the blood and compares it to the normal range to determine if there is a deficiency or dysfunction of the enzyme. This test can also be used to assess the effectiveness of enzyme replacement therapy, a common treatment for Gaucher disease.
Furthermore, the GAUCHER DISEASE QUANTITATIVE BLOOD Test can aid in identifying carriers of Gaucher disease and determining the risk of passing on the condition to offspring. However, it is important to note that a quantitative blood test alone is not sufficient for definitively diagnosing Gaucher disease. Additional tests, such as genetic testing and imaging studies, may be required for a comprehensive diagnosis.
| Test Name | GAUCHER DISEASE QUANTITATIVE BLOOD Test |
|---|---|
| Components | |
| Price | 440.0 AED |
| Sample Condition | 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 sample. |
| Report Delivery | Sample Daily by 4 pm; Report 4 days |
| Method | Enzyme assay |
| Test type | Inborn errors of metabolism |
| Doctor | Pediatrician |
| Test Department: | GENETIC |
| Pre Test Information | Clinical details must accompany sample. |
| Test Details |
A quantitative blood test for Gaucher disease measures the levels of a specific enzyme called glucocerebrosidase (GCase) in the blood. Gaucher disease is a genetic disorder characterized by the deficiency or malfunction of this enzyme. The test involves taking a blood sample from the patient and measuring the activity of GCase in the sample. The activity level of GCase in the blood is then compared to the normal range to determine if there is a deficiency or dysfunction of the enzyme. This quantitative blood test helps in the diagnosis and monitoring of Gaucher disease. It can also be used to assess the effectiveness of enzyme replacement therapy, a common treatment for the disease. Additionally, the test can aid in identifying carriers of Gaucher disease and determining the risk of passing on the condition to offspring. It is important to note that a quantitative blood test alone is not sufficient for diagnosing Gaucher disease definitively. Additional tests, such as genetic testing and imaging studies, may be required for a comprehensive diagnosis. |
