Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Phenylketonuria screening
Introduction
Overview
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
Screening
- Newborns are usually screened at day 6 to 14 following birth
- 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.[1]
- If a test result returns positive, the test is typically repeated at 2 weeks of age to confirm or rule out the diagnosis.
References
References
- ↑ Zerjav Tansek M, Groselj U, Angelkova N, Anton D, Baric I, Djordjevic M; et al. (2015). “Phenylketonuria screening and management in southeastern Europe – survey results from 11 countries”. Orphanet J Rare Dis. 10 (1): 68. doi:10.1186/s13023-015-0283-0. PMC 4451731. PMID 26025111.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Yanira Gavidia, M.D.