Potential cystic fibrosis
Me and my husband are cf carriers. I have the DF508del mutation and my husband the R117C. We have a two years old daugter with a mild cf and a five and a half years old son with the DF508del mutation. Some doctors and genetists say that my son is simply a carrier, even though he has two sweat tests ...
G542x and another mutation
Hello, I just have a question of my daughters mutations (G542X and c.1210-2A>C). I'm in the states with no answers from anyone here. They said no one else has her two combined but she will eventually have lung disease! She has been diagnosed with cf but has no lung issues at all just gi issues. But ...
Rare CF mutations
What percentage of the UK population carries a rare mutation for cystic fibrosis (excluding the 50 most commonly found mutations)?
Rare CF mutation risks?
What is the risk for a white British male having a rare mutated CF gene? The 50 most common have been tested for and have come back as clear for mutations. I have recently been found to be a carrier of a common mutation following blood tests after my baby was diagnosed as having an echogenic ...
Baby is a carrier of G542x, Negative Sweat Test
I had a question. Our daughter is a carrier of G542x. Her sweat test was negative. My wife and I are starting to think about having another baby and am confused about what I have found online. If I am the carrier of G542x and my wife has any of the other 1800 known mutation, can my next ...
R709X and V4SEA?
Is there any known info about the V4SEA mutation along with R709X?
Heterozygous mutation
Hi, I have a daughter that was Diagnosed with DeltaI507 from mother's side and 3272-26A>G from fathers side, she has never had an symptoms and is perfectly healthy at 7 years old. Nevertheless, I am pregnant and would like to know if you have any record of this combination and what the expression ...
F508del and F1052V
My wife and I are expecting a baby with both F508del and F1052v mutations per the results of our CVS. We need to know if there is any research that can give us a prognosis of the expected severity of illness. Is this a mild type combination? or is it more liely to be severe? Thank you.
Test question for keyword list-please ignore
This is a test question, please just ignore it
F1052V and F508del
We are expectant and near 14 weeks gestation. My wife carries F508del and I carry F1052V. The results of our CVS test were revealed that the baby inherited both faulty genes. We would like to know what to expect in clinical manifestations? What treatments might be available? Should we bank the ...
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