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 | The PKU programmePages in this section: PKU Expert GroupThe PKU Expert Group was established by the UK Newborn Screening Programme Centre (UKNSPC) in late 2008 to review the current national standards and guidelines for clinical referral and to produce detailed screening and diagnostic protocols for phenylketonuria (PKU). The work and recommendations of the Expert Group are contained in The Expert Group PKU Review Report July 2010 v1.0. Implementation was completed by screening laboratories across England by 1st April 2011. The PKU laboratory handbook that reflects these national standards and guidance is now available. BackgroundIn 2005 the UKNSPC set standards for PKU screening to *ensure timeliness of the process, population uptake and timely diagnosis, assessment and treatment of babies screened positive (* lifted from the executive summary). In the 2005 guidance it was acknowledged that some laboratories use different thresholds and methods for the measurement of phenylalanine. Since 2009 all laboratories have introduced tandem mass spectrometry as the screening technology for PKU. In addition there have been developments in knowledge about biopterin disorders and a need to be consistent with standards and guidance for other screening programmes. The PKU Expert Group consisted of representatives of the UKNSPC, British Inherited Metabolic Disease Group, UK Newborn Screening Laboratory Network and the National Metabolic Biochemistry Network. Documents to support the PKU screening programmePKU newborn screening protocol PKU initial clinical referral guidelines and standards Lab notification of a presumptive positive to PKU team Lab notification of 'PKU not suspected, other disorder follow-up' to PKU team Notification of PKU 'Affected not Detected' case to UKNSPC Laboratory and PKU specialist contact details PKU Expert Group Review Report July 2010 v1.0 'Phenylketonuria is suspected' leaflet 'Communication guidelines for phenylketonuria is suspected' leaflet |
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