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Thread: Help explaining?

  1. #1

    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
    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

  3. #3
    My understanding is different. There are almost 2000 known mutations. New born screens for the most common 32. As you need additional screenings, your insurance will first allow 250 then 500, etc. until you /they have completed. It is all about Insurance Company money.
    Male 79 CF undetected until age 47. (First symptoms at age 3) Delta F508 & V562I with one copy of Variant 5Tand 12T. 100% PI. MAC, CFRD.

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