In this section
For families where there is already an affected child with a metabolic condition or both parents are known carriers, early testing should be carried out:
| Condition | Age at collection of early sample(s) in hours |
| Phenylketonuria | 48-72 |
| Medium-chain acyl-CoA Dehydrogenase Deficiency (MCADD) | 24-48 |
| Isovaleric acidaemia (IVA) | 24-48 |
| Maple syrup urine disease (MSUD) | 12-24 |
| Glutaric aciduria type 1 (GA1) | 24-48 |
| Homocystinuria (HCU) | Not required |
PLEASE NOTE EARLY METABOLIC SCREENING IS NOT A ROUTINE NEWBORN SCREENING
A newborn screening sample must still be taken on day 5. Please telephone the Willink laboratory on 0161 701 2140 to arrange. Early testing may involve collection of a blood spot or other specimen type. To ensure prompt processing of early screening samples they must be addressed to the Willink Biochemical Genetics Laboratory NOT the Newborn Screening Laboratory and be clearly marked as ‘early metabolic screening’:
Willink Biochemical Genetics Laboratory
Genomic Diagnostics Laboratories
Manchester Centre for Genomic Medicine
Manchester University NHS Foundation Trust
6th Floor, Pod 1
Saint Mary’s Hospital
Oxford Road
Manchester
M13 9WL
(Last reviewed June 2023)