File:UK Neonatal blood spot test - August 2013.jpg

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UK Neonatal blood spot test (August 2013)

  • PKU - phenylketonuria
  • CHT - congenital hypothyroidism
  • SCD - sickle cell disease
  • CF - cystic fibrosis
  • MCADD - medium chain acyl-CoA dehydrogenase deficiency
Note that UK conditions screened has changed in May 2014.

UK National Screening Committee - Newborn babies will be tested for four more disorders[1] "The test is already used to screen for phenylketonuria, hypothyroidism, sickle cell disease, cystic fibrosis, and medium chain acyl-CoA dehydrogenase deficiency. To these five conditions four more will now be added: homocystinuria, maple syrup urine disease, glutaric aciduria type 1, and isovaleric acidaemia."

Links: Guthrie test | United Kingdom Statistics


Table source (modified)

  1. Newborn babies will be tested for four more disorders, committee decides BMJ 2014; 348 doi: (Published 13 May 2014) BMJ 2014;348:g3267 UK National Screening Committee

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Cite this page: Hill, M.A. (2024, April 22) Embryology UK Neonatal blood spot test - August 2013.jpg. Retrieved from

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© Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G

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