Serum Phenylalanine Screening
Serum phenylalanine screening is a blood test to look for signs of the disease
Phenylalanine - blood test; PKU - phenylalanine
How the Test is Performed
The test is most often done as part of routine screening tests before a newborn leaves the hospital. If the child is not born in a hospital, the test should be done in the first 48 to 72 hours of life.
An area of the infant's skin, most often the heel, is cleaned with a germ killer and punctured with a sharp needle or a lancet. Three drops of blood are placed in 3 separate test circles on a piece of paper. Cotton or a bandage may be applied to the puncture site if it is still bleeding after the blood drops are taken.
The test paper is taken to the laboratory, where it is mixed with a type of bacteria that needs phenylalanine to grow. Another substance that blocks phenylalanine from reacting with anything else is added.
How to Prepare for the Test
For help preparing your baby for the test, see
How the Test will Feel
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 to reduce the painful sensation associated with the skin puncture.
Why the Test is Performed
This test is done to screen infants for PKU, a fairly 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 in the baby will cause intellectual disability. When discovered early, changes in the diet can help prevent the severe side effects of PKU.
A normal test result means that phenylalanine levels are normal and the child does not have PKU.
Normal value ranges may vary slightly among different laboratories. Talk to your health care provider about the meaning of your baby's test results.
What Abnormal Results Mean
If the screening test results are abnormal, PKU is a possibility. Further testing will be done if the phenylalanine levels in your baby's blood are too high.
The risks of having blood drawn are slight, but include:
- Excessive bleeding
- 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
Chernecky CC, Berger BJ. Phenylalanine. In: Chernecky CC, Berger BJ, eds. Laboratory Tests and Diagnostic Procedures. 6th ed. St Louis, MO: Elsevier Saunders; 2013:chap P.
Pasquali M, Longo N. Newborn screening and inborn errors of metabolism. In: Burtis CA, Ashwood ER, Bruns DE, eds. Tietz Textbook of Clinical Chemistry and Molecular Diagnosis. 5th ed. St Louis, MO: Elsevier Saunders; 2012:chap 58.
Zinn AB. Inborn errors of metabolism. In: Martin RJ, Fanaroff AA, Walsh MC, eds. Fanaroff and Martin's Neonatal-Perinatal Medicine. 10th ed. Philadelphia, PA: Elsevier Saunders; 2015:chap 99.
Review Date: 24/04/2017
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright ©2019 A.D.A.M., Inc., as modified by University of California San Francisco. Any duplication or distribution of the information contained herein is strictly prohibited.
Information developed by A.D.A.M., Inc. regarding tests and test results may not directly correspond with information provided by UCSF Health. Please discuss with your doctor any questions or concerns you may have.