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 analyzed. The newborn bloodspot (NBS) screening program enables early identification, referral, and treatment of babies with nine rare but serious conditions.
Disease Screened | Test |
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Congenital Hypothyroidism | TSH (Thyroid-Stimulating Hormone) |
Cystic Fibrosis | Immunoreactive trypsin - elevated if there is pancreatic duct obstruction |
Phenylketonuria (PKU) | 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) | Elevated leucine, isoleucine, and valine levels |
Isovaleric Acidaemia (IVA) | High isovalerylcarnitine levels |
Glutaric Aciduria Type 1 (GA1) | Increased glutarylcarnitine levels |
Homocystinuria (HCU) | Elevated methionine levels |