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Neonatal Screening test
- Question
- Hello,
could you tell me if babies with at least one mutation 3849 + 10 Kb> C and another mutation have been diagnosed in Guthrie?
Cordially
- Answer
- Hello,
The French Cystic Fibrosis Registry reported 80 patients with this mutation 3849 + 10kb> C: 17 of them were diagnosed following a test of routine neonatal screening for cystic fibrosis.
Hope this answer can help.
Best wishes
Gilles RAULT, MD, Roscoff CF Center
PS: The Guthrie test is the name given to phenylketonuria test which was the first genetic disease to be screened by a routine newborn screening. By extension the term of Guthrie test is commonly but used to refer to the blood sample taken on the heel of newborns for testing.
- 18.04.2016
