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Metabolic NBS

Newborn blood spot test

The newborn blood spot test involves taking a small sample of your baby's blood to check it for 9 rare but serious health conditions.

When your baby is about 5 days old, a healthcare professional will prick your baby's heel and collect a few drops of blood on a special card. This is sent off for testing.

Conditions which can be picked up from newborn screening include six inherited metabolic conditions:

  • Phenylketonuria (PKU)
  • Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
  • Maple syrup urine disease (MSUD)
  • Isovaleric avidaemia (IVA)
  • Glutaric aciduria type 1 (GA1)
  • Homocystinuria (HCU)

Other conditions screened include:

  • Cystic fibrosis
  • Congenital hypothyroidism Sickle cell disease
  • Sickle cell disease

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