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Metabolic Laboratory

This laboratory is a section of the Department of Medical Biochemistry, and is headed by Professor Stuart Moat (Consultant Biochemist & Director - Wales Newborn Screening Laboratory) and managed by Rachel Hunt (Lead Biomedical Scientist).

We offer a large number of blood, urine and faecal assays, required for the diagnosis and monitoring of a wide range of disorders:

  • Inborn errors of metabolism
  • Cystic fibrosis
  • Pancreatic and intestinal diseases
  • Nutritional monitoring.

Specimens are received from several hospitals, both within Wales and around the UK.  In addition to the analytical service, our staff are available to provide clinical advice on appropriate investigations and interpretation of results.

Information for Patients

These laboratory services cannot be accessed directly by patients - a referral from a GP or specialist doctor is required (depending upon the condition involved). If you have any questions about the services available and how these can be accessed by you or your family, please contact your GP to discuss. They should also have information about the funding of these tests within your area as this varies both within and outside of the UK.

Metabolic Service

Metabolic Test Repertoire - download or view online


Contact Us

Laboratory/general enquiries

Heather Wheatley (Senior Biomedical Scientist) - Heather.Wheatley@wales.nhs.uk , 029 21843560

Clinical enquiries /advice

Professor Stuart J Moat (Consultant Biochemist & Director - Wales Newborn Screening Laboratory) - Stuart.Moat@wales.nhs.uk , 029 21843562

Dr Duncan Cole (Consultant in Medical Biochemistry & Metabolic Medicine) - Duncan.Cole@wales.nhs.uk , 029 21848359

Fiona Stratford (Clinical Scientist) - Fiona.Stratford@wales.nhs.uk , 029 21843561

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