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Galactosemia Test

Does this test have other names?

Galactosemia newborn screening test.

What is this test?

This test is part of screening done on all newborns. It looks for high galactose and low galactose-1 phosphate uridyltransferase (GALT) levels in your child's blood. This may mean a condition called galactosemia.

Galactosemia is a rare inherited disorder that keeps the body from breaking down galactose, the sugar found in many foods and in all dairy products. There is too little or poorly working GALT enzyme, which normally breaks down galactose. This causes the high galactose level. Galactosemia can cause serious problems. These include an enlarged liver, kidney failure, and brain damage.

Why does my child need this test?

If the newborn screening test is positive, it doesn't mean your child has galactosemia. Further tests are needed to make the diagnosis. If your child has galactosemia, early treatment can help to prevent serious problems.

What other tests might my child have along with this test?

Your child will have other blood tests if he or she has a positive galactosemia newborn screening test. They may include:

  • Galactosemia reflex test

  • Other GALT enzyme tests

  • GALT gene blood panel

  • Other gene blood tests

What do my child's test results mean?

Many things may affect your lab test results. These include the method each lab uses to do the test. Even if your test results are different from the normal value, you may not have a problem. To learn what the results mean for you, talk with your healthcare provider. Positive galactosemia newborn screening test results usually mean that your child needs additional blood tests. Negative results usually mean your child doesn't need more tests for galactosemia.

How is this test done?

This test requires a blood sample, which is usually taken by a heel prick in the first week of life. Your child may also have repeat newborn screening tests.

Does this test pose any risks?

Taking a blood sample with a needle carries risks that include bleeding, infection, or bruising.

What might affect my child's test results?

Factors that may affect your child's newborn screening results include age, medical problems, and treatment like blood transfusions or total parenteral nutrition (TPN).

How do I get my child ready for this test?

There aren't any special preparations for newborn screenings.

Medical Reviewers:

  • Greco, Frank, MD
  • Holloway, Beth Greenblatt, RN, M.Ed.