What Is Phenylketonuria?
8. How Is PKU Diagnosed?
If you have a family history of PKU, your doctor can screen you before you have children to determine if you are a carrier. The screening is accomplished through a blood test. Doctors often also recommend that women with PKU and carriers be tested during pregnancy as well.
For newborn babies, the standard screening involves collecting a small blood sample shortly after birth, generally within the first two days. The test for the disorder is conducted simultaneously with tests for other metabolic disorders.
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