GALACTOSEMIA PANEL 1 Test
The GALACTOSEMIA PANEL 1 test is a diagnostic test used to detect the presence of certain genetic mutations that cause galactosemia, a rare genetic disorder. Galactosemia is characterized by the body’s inability to metabolize galactose, a sugar found in milk and other dairy products.
Test Components
- Galactosemia Screening
- Galactosemia Classical (Transferase)
Test Cost
The GALACTOSEMIA PANEL 1 test costs 570.0 AED.
Sample Condition
4 mL (2 mL min.) whole blood from 1 Green Top (Sodium Heparin) tube AND 4 mL (2 mL min.) CONTROL 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 1 test is a diagnostic test used to detect the presence of certain genetic mutations that cause galactosemia, a rare genetic disorder. Galactosemia is characterized by the body’s inability to metabolize galactose, a sugar found in milk and other dairy products. The GALACTOSEMIA PANEL 1 test typically includes the analysis of three specific genes: GALT, GALK1, and GALE. Mutations in these genes can lead to different types of galactosemia, including classic galactosemia, galactokinase deficiency, and epimerase deficiency.
The test involves collecting a blood sample from the patient, which is then sent to a laboratory for analysis. The laboratory will look for specific mutations or changes in the genes associated with galactosemia. If mutations are detected, it indicates a positive result for galactosemia.
The GALACTOSEMIA PANEL 1 test is usually recommended for individuals with symptoms suggestive of galactosemia, such as feeding difficulties, jaundice, liver problems, and developmental delays. It may also be recommended for individuals with a family history of galactosemia or those who have previously had a positive newborn screening for galactosemia.
It is important to note that the GALACTOSEMIA PANEL 1 test is just one of several tests available for the diagnosis of galactosemia. Depending on the specific symptoms and suspected type of galactosemia, additional tests may be required for a comprehensive diagnosis.
Test Name | GALACTOSEMIA PANEL 1 Test |
---|---|
Components | *Galactosemia Screening*Galactosemia Classical (Transferase) |
Price | 570.0 AED |
Sample Condition | 4 mL (2 mL min.) whole blood from 1 Green Top (Sodium Heparin) tube AND 4 mL (2 mL min.) CONTROL 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 1 test is a diagnostic test used to detect the presence of certain genetic mutations that cause galactosemia, a rare genetic disorder. Galactosemia is characterized by the body’s inability to metabolize galactose, a sugar found in milk and other dairy products. The GALACTOSEMIA PANEL 1 test typically includes the analysis of three specific genes: GALT, GALK1, and GALE. Mutations in these genes can lead to different types of galactosemia, including classic galactosemia, galactokinase deficiency, and epimerase deficiency. The test involves collecting a blood sample from the patient, which is then sent to a laboratory for analysis. The laboratory will look for specific mutations or changes in the genes associated with galactosemia. If mutations are detected, it indicates a positive result for galactosemia. The GALACTOSEMIA PANEL 1 test is usually recommended for individuals with symptoms suggestive of galactosemia, such as feeding difficulties, jaundice, liver problems, and developmental delays. It may also be recommended for individuals with a family history of galactosemia or those who have previously had a positive newborn screening for galactosemia. It is important to note that the GALACTOSEMIA PANEL 1 test is just one of several tests available for the diagnosis of galactosemia. Depending on the specific symptoms and suspected type of galactosemia, additional tests may be required for a comprehensive diagnosis. |