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Newborn Screening Laboratory

The Newborn Screening Laboratory at the University Hospital of Wales screens all babies (approximately 37,000 per year) born in Wales. All newborn babies are screened, using dried blood spots, collected between 5-8 days of age, for nine disorders:

  • Phenylketonuria (PKU)
  • Congenital hypothyroidism (CHT)
  • Cystic fibrosis (CF)
  • Medium chain acyl CoA dehydrogenase deficiency (MCADD)
  • Sickle cell disorders (SCD)
  • Homocystinuria (HCU)
  • Maple syrup urine disease (MSUD)
  • Isovaleric acidaemia (IVA)
  • Glutaric aciduria type 1 (GA1)

The Wales Newborn Screening Laboratory is commissioned by Screening Division, Public Health Wales to undertake these tests.

The laboratory also provides a dietary monitoring service for patients with PKU and Maple Syrup Urine Disease (MSUD) on dried blood spots collected by the patients at home.

The Newborn Screening Laboratory is a section of the Medical Biochemistry Department headed by a Consultant Biochemist, the Director of the Wales Newborn Screening Laboratory, Professor Stuart J Moat. Dr Moat is a member of the UK Newborn Screening Laboratory Network (UKNSLN) and the UK Metabolic Biochemistry Network.

The staff in the Newborn Screening Laboratory are also involved in providing a range of metabolic biochemistry investigations in conjunction with the metabolic section of the Laboratory.  Testing includes amino acids, organic acids, acylcarnitine profiling, enzyme testing & intermediary metabolites.

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.

Newborn screening Service 

Newborn Screening Test Repertoire – view online or download.

Contacts

For general newborn screening & metabolic enquiries please contact 029 21844032.

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