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:
- 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.
- 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.
- 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. |