Blood is taken on day 5-9 after birth from a small pinprick on the heel and dried into an absorbent card to be analysed. NBS screening programme enables early identification, referral and treatment of babies with 9 rare but serious conditions
Disease Screened Test Congenital Hypothyroidism TSH Cystic fibrosis Immunoreactive trypsin - elevated if there is pancreatic duct obstruction Phenylketonuria High blood phenylalanine Sickle cell disease and Thalassaemia Hb electrophoresis Medium chain acyl CoA dehydrogenase deficiency (MCADD) Excess Medium chain fatty acids Maple syrup urine disease (MSUD), isovaleric acidaemia (IVA), glutaric aciduria type 1 (GA1), homocystinuria (HCU)
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Guthrie test New Born blood spot
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