Makindo Medical Notes"One small step for man, one large step for Makindo" |
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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 |
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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) |