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
This file may not be suitable for users of assistive technology. Request an accessible format.
If you use assistive technology (such as a screen reader) and need a version of this document in a more accessible format, please email email@example.com. Please tell us what format you need. It will help us if you say what assistive technology you use.
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