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Galactosemia Panel 1 Test

570 د.إ

-11%

The Galactosemia Panel 1 Test is a crucial diagnostic tool used to detect galactosemia, a rare genetic disorder that affects an individual’s ability to metabolize galactose, a simple sugar found in milk and dairy products. This condition, if left untreated, can lead to serious complications such as liver damage, cataracts, intellectual disability, and even death in infants. The test is designed to identify various forms of the disease by examining specific genes known to be associated with galactosemia.

Performed at DNA Labs UAE, a leading facility in genetic testing and analysis, the Galactosemia Panel 1 Test offers a comprehensive screening for the most common and severe forms of galactosemia, including GALT (galactose-1-phosphate uridyltransferase) deficiency, which is the most prevalent type. By analyzing the patient’s DNA, the test can identify mutations in the genes responsible for galactose metabolism, providing essential information for diagnosis and management of the condition.

The cost of the Galactosemia Panel 1 Test at DNA Labs UAE is 570 AED. This investment in health enables early detection and intervention, which are critical in preventing the potentially life-threatening complications associated with galactosemia. Early diagnosis through the Galactosemia Panel 1 Test allows for the implementation of a galactose-free diet, significantly improving the quality of life and long-term outcomes for individuals with this genetic disorder.

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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.