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Galactosemia Panel 3 Test

910 د.إ

-10%

The Galactosemia Panel 3 Test is a specialized diagnostic procedure offered at DNA Labs UAE, designed to detect the presence of galactosemia, a rare genetic metabolic disorder. This condition prevents the body from properly processing galactose, a simple sugar found in milk and dairy products, leading to potentially serious health complications. Priced at 910 AED, the test involves analyzing specific genes associated with galactosemia to identify mutations or abnormalities. By conducting this test, healthcare providers can diagnose the condition early, allowing for timely intervention and management strategies to mitigate health risks associated with galactosemia. DNA Labs UAE provides a reliable and accurate testing service, ensuring that individuals receive crucial information about their genetic health.

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GALACTOSEMIA PANEL 3 Test

Test Cost: AED 910.0

Symptoms, Diagnosis, and Test Details

The GALACTOSEMIA PANEL 3 test is a diagnostic tool used to screen for and diagnose galactosemia, a rare genetic disorder. Galactosemia is caused by a deficiency in one of the enzymes needed to break down galactose, a sugar found in milk and other dairy products.

The GALACTOSEMIA PANEL 3 test includes three specific tests:

  1. Galactose-1-Phosphate Uridyltransferase (GALT) Enzyme Assay: This test measures the activity of the GALT enzyme, which is responsible for converting galactose-1-phosphate to glucose-1-phosphate. A deficiency in this enzyme is the most common cause of galactosemia.
  2. Galactokinase (GALK) Enzyme Assay: This test measures the activity of the GALK enzyme, which is responsible for converting galactose to galactose-1-phosphate. Deficiency in this enzyme is a less common cause of galactosemia.
  3. UDP-Galactose 4′-Epimerase (GALE) Enzyme Assay: This test measures the activity of the GALE enzyme, which is responsible for converting UDP-galactose to UDP-glucose. Deficiency in this enzyme is a very rare cause of galactosemia.

The GALACTOSEMIA PANEL 3 test is typically performed on a blood sample. Results from the test can help determine the specific enzyme deficiency causing galactosemia and guide appropriate treatment and management strategies for affected individuals.

Test Components and Price

  • Galactosemia Classical (Transferase)
  • Galactosemia (Epimerase)

Price: AED 910.0

Sample Condition and Report Delivery

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 and Test Type

Method: Spot Test, Enzyme assay

Test Type: Inborn errors of metabolism

Referring Doctor and Test Department

Doctor: Pediatrician

Test Department: GENETIC

Pre Test Information

Avoid sample collection for 60 days post transfusion. Clinical and drug history must accompany sample.

Test Name GALACTOSEMIA PANEL 3 Test
Components *Galactosemia Classical (Transferase) *Galactosemia (Epimerase)
Price 910.0 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 Spot Test, 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

The GALACTOSEMIA PANEL 3 test is a diagnostic tool used to screen for and diagnose galactosemia, a rare genetic disorder. Galactosemia is caused by a deficiency in one of the enzymes needed to break down galactose, a sugar found in milk and other dairy products.

The GALACTOSEMIA PANEL 3 test includes three specific tests:

1. Galactose-1-Phosphate Uridyltransferase (GALT) Enzyme Assay: This test measures the activity of the GALT enzyme, which is responsible for converting galactose-1-phosphate to glucose-1-phosphate. A deficiency in this enzyme is the most common cause of galactosemia.

2. Galactokinase (GALK) Enzyme Assay: This test measures the activity of the GALK enzyme, which is responsible for converting galactose to galactose-1-phosphate. Deficiency in this enzyme is a less common cause of galactosemia.

3. UDP-Galactose 4′-Epimerase (GALE) Enzyme Assay: This test measures the activity of the GALE enzyme, which is responsible for converting UDP-galactose to UDP-glucose. Deficiency in this enzyme is a very rare cause of galactosemia.

The GALACTOSEMIA PANEL 3 test is typically performed on a blood sample. Results from the test can help determine the specific enzyme deficiency causing galactosemia and guide appropriate treatment and management strategies for affected individuals.