Neonatal blood spot screening

Neonatal blood spot screening (previously called the Guthrie test or 'heel-prick test') is performed at 5-9 days of life

The following conditions are currently screened for:

• congenital hypothyroidism
• cystic fibrosis
• sickle cell disease
• phenylketonuria
• medium chain acyl-CoA dehydrogenase deficiency (MCADD)
• maple syrup urine disease (MSUD)
• isovaleric acidaemia (IVA)
• glutaric aciduria type 1 (GA1)
• homocystinuria (pyridoxine unresponsive) (HCU)