Assay Directory

Assay Directory

Diagnostic Assay Services

Please use the tool buttons on the right to search for sample requirements and analytical information on our extensive test repertoire

Inborn Errors of Metabolism

A regional service is provided by Clinical Chemistry for the investigation of suspected metabolic disorder. This service is available to the Sheffield Children’s NHS Foundation Trust without cross charging and to other users on a cost per test basis

Newborn Screening

Screening covers all babies born in the East Midlands SHA, South Yorkshire and South Humberside portion of the Yorkshire and Humber SHA (Derbyshire, Leicestershire, Lincolnshire, Northamptonshire, Nottinghamshire, Rutland, and South Yorkshire). Babies are tested for:

  • phenylketonuria (phenylalanine)
  • congenital hypothyroidism (TSH)
  • cystic fibrosis (immunoreactive trypsin)
  • medium chain acyl CoA dehydrogenase (octanoylcarnitine)
  • sickle cell disorders (haemoglobin profile) using dried blood spots from the newborn screening card

Recently we introduced 4 new tests:

  • Homocystinuria (methionine followed by secondary testing for total homocysteine)
  • MSUD- Leucine
  • GA1 - C5DC acylcarnitine
  • IVA - C5 acylcarnitine

For more information see the expanded screening website: