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==UK Neonatal blood spot test (August 2013)==
==UK Neonatal blood spot test (August 2013)==


Note that conditions screened has changed in May 2014.
* '''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'''<ref>Newborn babies will be tested for four more disorders, committee decides BMJ 2014; 348 doi: http://dx.doi.org/10.1136/bmj.g3267 (Published 13 May 2014) [http://www.bmj.com/content/348/bmj.g3267?etoc= BMJ 2014;348:g3267] [http://www.screening.nhs.uk/meetings UK National Screening Committee]</ref> "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."
'''UK National Screening Committee - Newborn babies will be tested for four more disorders'''<ref>Newborn babies will be tested for four more disorders, committee decides BMJ 2014; 348 doi: http://dx.doi.org/10.1136/bmj.g3267 (Published 13 May 2014) [http://www.bmj.com/content/348/bmj.g3267?etoc= BMJ 2014;348:g3267] [http://www.screening.nhs.uk/meetings UK National Screening Committee]</ref> "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."

Revision as of 14:25, 14 May 2014

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

Reference

Table source (modified) http://newbornbloodspot.screening.nhs.uk/professionals

  1. Newborn babies will be tested for four more disorders, committee decides BMJ 2014; 348 doi: http://dx.doi.org/10.1136/bmj.g3267 (Published 13 May 2014) BMJ 2014;348:g3267 UK National Screening Committee

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