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 levels of galactose
and low galactose-1 phosphate uridyltransferase (GALT) in your child's blood. This
may mean your child has a condition called galactosemia.
Galactosemia is a rare inherited disorder. It keeps the body from breaking down galactose.
Galactose is a sugar found in many foods and in all dairy products. An enzyme called
GALT normally breaks down galactose. Low levels of the enzyme causes the high galactose
level in the blood. Galactosemia can cause serious problems. These include an enlarged
liver, kidney failure, and brain damage.
Why does my child need this test?
This test is part of screening done on all newborns. If the newborn screening test
is positive, it doesn't mean your child has galactosemia. More tests are needed to
make the diagnosis. If your child has galactosemia, early treatment can help to prevent
What other tests might my child have along with this test?
If your child has a positive galactosemia test, they may need other tests such as:
Galactosemia reflex test
Other GALT enzyme tests
GALT gene blood panel
Other gene blood tests
What do my child's test results mean?
Test results may vary depending on the method used for the test, and other things.
Your child’s test results may not mean they have a problem. Ask the healthcare provider
what the test results mean for your child.
Positive galactosemia test results usually mean that your child needs more blood tests.
Negative results usually mean your child doesn't need more tests to check for this
How is this test done?
This test is done with a blood sample. This is usually taken by a heel prick in the
first week of life. For a heel prick, a small needle is used to poke the bottom of
your baby’s foot. A small drop of blood is taken and tested.
Does this test pose any risks?
Taking a blood sample with a needle carries risks that include bleeding, infection,
bruising, or feeling dizzy. When the needle pricks the skin, your child , may feel
a slight stinging sensation or pain. Afterward, the site may be slightly sore.
What might affect my child's test results?
Factors that may affect your child's newborn screening results include age, other
health problems, and treatment such as blood transfusions or total parenteral nutrition
How do I get my child ready for this test?
You don't need to do anything to get your child ready for this test.