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From the way that our Dr explained it, in California they do the IRT twice and when it's elevated it goes straight to screening for the "California 40"--the 40 most common mutations in California. If it detects one of them, it then goes to full DNA sequencing which then sometimes brings stuff...

Hi there! Steve, I was hoping you could help me out here. Here are the results of my 3 week old daughter's newborn screening- CFTR DNA sequencing Mutation 1-delF508 Mutation 2-I1366T-This sequence change was described in an asymptomatic carrier. No reports link this sequence change to CF...

Thank you so much for this! God is good even in the "Even If's" scenarios.

Aboveallislove, Thank you so much for your detailed response. What a helpful post. We called today and got an appt for the sweat test Wednesday (6 days! sigh). My husband asked the lady he talked to about the two mutations together, and after pulling them both up she said that "most often...

So I received a call that my newborn has two mutations today-I1366T & DelF508. Her IRT was 97.99, and newborn cutoff is 67. I was told that they would refer her for the sweat test at Children's Hospital and I'll be hearing from her Dr and C.H. soon. *crickets* Soooo....in the MEANTIME, what...