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Galactosemia Epimerase Quantitative Blood Test

570 د.إ

-11%

The Galactosemia Epimerase Quantitative Blood Test is a specialized diagnostic procedure designed to measure the activity of the enzyme UDP-galactose-4′-epimerase in the blood. This enzyme plays a crucial role in the metabolism of galactose, a simple sugar found in milk and dairy products. The test is essential for the diagnosis and management of a rare but serious condition known as Galactosemia Type 3, caused by deficiencies in this specific enzyme. Individuals with this condition are unable to properly metabolize galactose, leading to a buildup of toxic substances in the body, which can result in liver damage, intellectual disability, and other severe complications if not treated promptly.

The test involves drawing a small sample of blood from the patient, which is then analyzed in a laboratory setting to determine the activity level of UDP-galactose-4′-epimerase. This quantitative analysis is critical for identifying individuals with Galactosemia Type 3, enabling early intervention and dietary management to prevent the development of severe symptoms and complications.

In the UAE, the Galactosemia Epimerase Quantitative Blood Test is offered by DNA Labs UAE, a leading provider of genetic and metabolic testing services. The cost of the test is 570 AED, making it accessible to those who need it for the diagnosis and management of this rare genetic condition. DNA Labs UAE is equipped with state-of-the-art technology and staffed by experienced professionals, ensuring accurate and reliable test results for patients and their families.

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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.