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Steve,
My grandson recieved a positive NBS of R117H/R117H, was sent for Sweat Test which came back "perfectly normal"... "not even borderline..." per the MD. However, "due to the presence of two mutations" a diagnosis of CF was issued. He is asymptomatic at this time, but the MD says the...
My 4 week old grandson was just given a diagnosis of CF based on positive NBS of two mutations R117H/R117H. Sweat test performed today at MCG in Augusta, Ga came back normal, however diagnosis was handed out based on appearance of two mutations - which I guess means homozygous for R117H. MD...
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