Galactosemia Screening (Urine) Test

Galactose is a sugar that is found in the lactose component present in milk. A Galactosemia test is conducted to check whether the enzymes needed to convert galactose into glucose are present in your body or not. A person having galactosemia is usually devoid of such enzymes and as a result, a high concentration of galactose builds up in the human blood or urine. Galactosemia is a rare disease that is inherited in the newborns from their parents. A galactosemia test is normally prescribed by a doctor to check whether the newborn is infected with the disease or not. This test not only finds out whether the necessary enzymes are present in the body or not but also helps in determining whether the diet changes prescribed are working for the galactosemia patient or not.

You need not do anything in particular for this test. No changes in diet or your usual routine is required. You can have a word with your doctor before this test and get your doubts cleared about this test if you have any. Your doctor will guide you and inform you about all the relevant details associated with this test.

As already stated earlier, a galactosemia screening test is used to check the galactose content in the body and also the presence of enzymes required to convert the galactose into glucose. The following points can be concluded from the report. If the result states the remark as “Negative” then it implies that galactosemia is not present in the patient. If the result states “Positive” in the remark then it implies that the patient is having galactosemia.

Procedure: The galactosemia screening test will hardly take few minutes of your time. If this test is to be conducted for a newborn, then a medical practitioner will diligently carry out the following steps. A plastic collection bag will be taped to the child’s genital area. When the baby urinates, the plastic bag will be removed. Plastic bag will then be sealed with the patient’s name and will be sent to the laboratory for a test. You can expect to get the results within 2-3 days of the test.