Galactosemia Tests
What is Galactosemia Tests?
Galactosemia Tests detect galactose levels in the blood to diagnose galactosemia, an inherited disorder in which the body cannot properly metabolize a sugar called galactose. Galactose is found in dairy products, certain vegetables, and some fruits. In people with this disorder, the body is unable to break down galactose properly. If left untreated, it can cause serious health complications or even death.
Preparation for the Test
Preparation for the Galactosemia test is fairly straightforward. The patient must fast for at least 8 hours before the test. The patient should inform the doctor if they are taking any medication that can interfere with the test results such as insulin or anticoagulants.
Procedure of the Test
A sample of blood is taken from a vein in the arm and sent to a laboratory for analysis. The results of the test are usually available in 1 to 2 days. The test is relatively simple and most results are accurate.
Types of Galactosemia Tests
There are two different types of Galactosemia tests that can be used to diagnose Galactosemia:
- The Galactose 1-phosphate Uridyltransferase (GALT) Test: This is the standard test for diagnosing galactosemia. It measures the amount of galactose 1-phosphate in the patient’s blood sample. If the levels are too high or too low, it usually indicates that the patient has the disorder.
- The Galactokinase Test: This test is used to diagnose a more rare type of galactosemia called galactosemia type II. It measures the amount of galactose 1-phosphate in the patient’s blood sample. If the levels are abnormal, it usually indicates that the patient has the disorder.
Risks of the Test
The risks of the Galactosemia test are minimal. As with any medical procedure, there is a slight risk of infection or bruising at the site of the needle insertion. There are also rarely allergic reactions to the antiseptic used to cleanse the skin before the test.
Why Should the Test Be Done?
Galactosemia Tests are performed to diagnose and monitor Galactosemia, an inherited disorder that can be life-threatening if left untreated. Early diagnosis and treatment can help prevent complications and improve the patient’s quality of life.
When Should the Test Be Done?
Galactosemia Tests are typically ordered by a physician when a patient is displaying possible symptoms of the disorder such as vomiting, diarrhea, or failure to thrive. It can also be used to test a baby shortly after birth, as early diagnosis can help avoid the serious health complications associated with the disorder.