Serum phenylalanine screening is a blood test to look for signs of the disease phenylketonuria (PKU). The test detects abnormally high levels of an amino acid called phenylalanine.
Phenylalanine - blood test
How the test is performed
The test is usually included in routine screening tests, which are done before the newborn leaves the hospital. If the child is not born in the hospital, the test should be done in the first 48 to 72 hours of life.
An area of the infant's skin, usually the heel, is cleaned with a germ killer (antiseptic) and punctured with a sharp needle or a lancet. Three drops of blood are placed in three separate test circles on a piece of paper. Cotton or a bandage may be applied to the puncture site if there is any continued bleeding.
The test paper is taken to the laboratory where it is mixed with a type of bacteria that needs phenylalanine to grow and another substance that blocks phenylalanine from reacting with anything else.
When the needle is inserted to draw blood, some infants feel moderate pain, while others feel only a prick or stinging sensation. Afterward, there may be some throbbing. Infants are given a small amount of sugar water, which has been shown in studies to reduce the painful sensation associated with the skin puncture.
Why the test is performed
This test is done to screen infants for phenylketonuria (PKU), a relatively rare condition that occurs when the body lacks a substance needed to breakdown the amino acid phenylalanine.
If PKU is not detected early, increasing phenylalanine levels will cause mental retardation. When discovered early, changes in the diet can help prevent the severe side effects of PKU.
A normal test results means that phenylalanine levels are normal and the child is not affected by PKU.
Normal value ranges may vary slightly among different laboratories. Talk to your doctor about the meaning of your specific test results.
What abnormal results mean
PKU is a possibility and further testing will be performed if the phenylalanine levels in the infant's blood are too high.
What the risks are
The risks of having blood drawn are slight, but include:
Fainting or feeling lightheaded
Hematoma (blood accumulating under the skin)
Infection (a slight risk any time the skin is broken)
Multiple punctures to locate veins
Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.