Newborn blood spot screening: laboratory guide for IMDs
- Public Health England
- Part of:
- NHS population screening: programme standards and Newborn blood spot screening programme: supporting publications
- First published:
- 14 July 2015
This publication covers all 6 inherited metabolic diseases (IMDs) and incorporates the previous PKU and MCADD laboratory handbooks.
Ref: PHE publications gateway number 2015120 PDF, 1.37MB, 135 pages
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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)
Published: 14 July 2015