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Thread: Help explaining?

  1. #1
    Junior Member
    Join Date
    Mar 2019

    Help explaining?

    Hello! I知 still wrapping my head around all of the information regarding CF.

    Could someone explain to me the genes? I know that at birth they test to see if a mutation shows up on two genes. However; I致e since learned there are many mutations/genes that can be affected. I知 just wondering why they look at those two in particular? I知 so confused! Thank you all.

  2. #2
    Super Moderator
    Join Date
    Apr 2006
    Newborn screening doesn't test for specific mutations but for elevated irt levels. If elevated, they retest and after that usually order a sweat test before deciding if testing for mutations is necessary.
    Parent to a child wcf double delta f508.

    Started Orkambi July 2015
    Began Symdeko August 2018

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