Guidance

Newborn blood spot screening: laboratory guide for IMDs

This publication covers all inherited metabolic diseases (IMDs) and incorporates the previous PKU and MCADD laboratory handbooks.

• From: NHS England
• Published: 14 July 2015
• Last updated: 16 January 2026
  Show all updates

  1. 16 January 2026

     Added a note to section 15.3.1 of the handbook on the potential for false negative results in pregnant patients receiving nitisinone.

  2. 5 November 2025

     Minor updates to IVA pathway

  3. 15 September 2025

     Added guidance on hereditary tyrosinaemia type 1 (HT1)

  4. 6 November 2024

     Collated information and provided links to diagnostic information

  5. 8 September 2017

     Updated version of guidance document.

  6. 14 July 2015

     First published.

Documents

A laboratory guide to newborn blood spot screening for inherited metabolic diseases

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Details

The document covers screening and diagnostic protocols and initial clinical referral guidelines for the 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)
• hereditary tyrosinaemia type 1 (HT1)