Guidance
Newborn blood spot screening: laboratory guide for IMDs
This publication covers all 6 inherited metabolic diseases (IMDs) and incorporates the previous PKU and MCADD laboratory handbooks.
Documents
Details
The document covers screening and diagnostic protocols and initial clinical referral guidelines for the 6 inherited metabolic diseases:
- phenylketonuria (PKU)
- medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
- maple syrup urine disease (MSUD)
- isovaleric acidaemia (IVA)
- glutaric aciduria type 1 (GA1)
- homocystinuria (pyridoxine unresponsive) (HCU)
Updates to this page
Published 14 July 2015
Last updated 6 November 2024
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Collated information and provided links to diagnostic information
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Updated version of guidance document.
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First published.