GALACTOSEMIA EPIMERASE QUANTITATIVE BLOOD Test
Test Name: GALACTOSEMIA EPIMERASE QUANTITATIVE BLOOD Test
Components: Price 570.0 AED
Sample Condition: 4 mL (2 mL min.) whole blood from 1 Green Top (Sodium Heparin) tube. Ship refrigerated. DO NOT FREEZE. Avoid sample collection for 60 days post transfusion. Clinical and drug history must accompany sample.
Report Delivery: Sample Daily by 4 pm; Report 5 days
Method: Enzyme assay
Test type: Inborn errors of metabolism
Doctor: Pediatrician
Test Department: GENETIC
Pre Test Information: Avoid sample collection for 60 days post transfusion. Clinical and drug history must accompany sample.
Test Details:
Galactosemia is a rare genetic disorder that affects the body’s ability to metabolize galactose, a sugar found in milk and other dairy products. One form of galactosemia is caused by a deficiency of the enzyme epimerase.
A quantitative blood test for galactosemia (epimerase) measures the level of galactose in the blood. This test is used to diagnose and monitor individuals with galactosemia, particularly those with epimerase deficiency.
During the test, a healthcare professional will collect a blood sample from the patient, usually by inserting a needle into a vein in the arm. The blood sample is then sent to a laboratory for analysis. The laboratory will measure the amount of galactose present in the blood sample. If the galactose level is elevated, it may indicate galactosemia, particularly epimerase deficiency.
The quantitative blood test for galactosemia (epimerase) is an important tool in diagnosing and managing this genetic disorder. It helps healthcare providers determine the appropriate treatment and dietary modifications necessary to prevent complications associated with galactosemia.
Test Name | GALACTOSEMIA EPIMERASE QUANTITATIVE BLOOD Test |
---|---|
Components | |
Price | 570.0 AED |
Sample Condition | 4 mL (2 mL min.) whole blood from 1 Green Top (Sodium Heparin) tube. Ship refrigerated. DO NOT FREEZE. Avoid sample collection for 60 days post transfusion. Clinical and drug history must accompany sample. |
Report Delivery | Sample Daily by 4 pm; Report 5 days |
Method | Enzyme assay |
Test type | Inborn errors of metabolism |
Doctor | Pediatrician |
Test Department: | GENETIC |
Pre Test Information | Avoid sample collection for 60 days post transfusion. Clinical and drug history must accompany sample. |
Test Details |
Galactosemia is a rare genetic disorder that affects the body’s ability to metabolize galactose, a sugar found in milk and other dairy products. One form of galactosemia is caused by a deficiency of the enzyme epimerase. A quantitative blood test for galactosemia (epimerase) measures the level of galactose in the blood. This test is used to diagnose and monitor individuals with galactosemia, particularly those with epimerase deficiency. During the test, a healthcare professional will collect a blood sample from the patient, usually by inserting a needle into a vein in the arm. The blood sample is then sent to a laboratory for analysis. The laboratory will measure the amount of galactose present in the blood sample. If the galactose level is elevated, it may indicate galactosemia, particularly epimerase deficiency. The quantitative blood test for galactosemia (epimerase) is an important tool in diagnosing and managing this genetic disorder. It helps healthcare providers determine the appropriate treatment and dietary modifications necessary to prevent complications associated with galactosemia. |