Phenylketonuria screening

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

Newborns are usually screened for phenylketonuria between the age of 6 to 14 days using either HPLC or Guthrie test. If results are positive, the test is usually repeated at 2 weeks of age to confirm or rule out the diagnosis.

Screening

• Newborns are usually screened shortly following birth between day 6 to 14.
• Neonatal heel prick is used to obtain a blood sample for screening.
• Screening for PKU is by usually either by HPLC test or by Guthrie test
• If a test result returns positive, the test is typically repeated at 2 weeks of age to confirm or rule out the diagnosis.