Topics

Disease Causing or not?
Hi, my 18 month old son's CFTR renotyping results are back. He is heterozygous for; c.[1521_1523delCTT] + c.[1584G>A] they also found sequence variants of limited or no known clincal significance; c.744-31TTGA[5]+[6] c.869+11C>T c.1210-12T[7]+[9] (poly T ...
08.04.2014
DF508 and T7, T9 polymorphism
Hello, my daughter is 7 months old and she has been diagnosed with CF when she was 2 1/2 months based on her clinical symptoms and sweat test result over 100. She is severely pancreatic insufficient with no lung implications so far. We performed genetic testing for her and it seems they ...
08.04.2014
Please help me understand CF mutations.
Hello, I previously asked this question which was not answered. I am hoping to receive some information. My husband and I are in the process of electing PGD and would like to know what clinical symptoms, if any, we can expect in offspring with the following mutations: Husband: one copy ...
08.04.2014
Diagnosis during pregnancy
Hello, mother of a 18 months old girl with cystic fibrosis, I'd like to get more information about the methods of detection of CF during natural pregnancy. At what point of pregnancy are these exams performed? When are the results known? Thank you!
08.04.2014
query - carrier
Dear Sirs I sent a question to the cystic fibrosis organisation and they directed me onto you as it was medical question. I have just found out that myself and my sister are carriers of the cystic fibrosis gene only and do not actually have it. I wanted to know if it was true that if you are a ...
08.04.2014
genetic test
My son aged 11 years is diagnosed with CF since infancy, he was diagnosed at 2 months. He has Pulmozyme®, pancreatic enzymes, vitamins, etc. With about 4 years of age he did the genetic test in Cluj-heterozygous for F508del, but we don't know if the other mutation was identified. I would like to ...
08.04.2014
CARRIER PARENTS
Is it correct , that if one parent is not a carrier of the cf virus so to speak that the child can not possible have cf? and is that 100% correct ?
07.04.2014
Carrier Testing
Dear Team, Please can I ask your advice. I am worried that my 18 month old grandson may be showing signs of CF. I am not aware of any history of cystic fibrosis in the family, but know this does not have to be a necessary factor. To avoid causing any unnecessary worry and stress to our daughter ...
07.04.2014
how long does it take to do a genetic screening for cystic fibrosis?
Hello, I would like to know the time necessary to do genetic testing for cystic fibrosis. I am a cystic fibrosis woman and thinking about a child, my friend must have a screening test. So, I would like to know how long does it take to have results. Thank you
24.03.2014
Delta F508 and 2184insA
What percentage of the CF population has this genetic mutation? What class is it? What are its symptoms usually look like?
24.03.2014
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