Topics

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
DNA test/risk of passing CF on to children
Hello, me and my wife plan to have children. As a CF causing mutation has already been detected in my DNA, is there a high risk that our children will come down with CF? My wife was born on the Philipinnes, I am European, and it is very hard to find information regarding the relevant mutation ...
24.03.2014
Carriers
My husband and I just found out through gene sequencing that I am a carrier of deltaF508 and he is a carrier of 5T. He testing negative in every way except the 5t. What are the odds of our children having CF? To me the odds aren't clear, our councilor says they could have a "mild" form of CF or ...
24.03.2014
CF mutations
I am a mother to a girl with F508del/CFTRdele2,3 (21kb) mutations. She was diagnosed at 2 months old. Now she is 5 and doing very well. Only 2 lung infections, no P.a cultured. Still I am concerned as I read both of the mutations are clasified as "severe". Does it mean that the progress of the ...
24.03.2014
CF in blood work but no symptoms
About 12 years ago it was found that i had full blown CF according to my bloods but i've never had any symptoms - this was found as i was trying to do egg donation. I am now wondering if this is common or whether it is rare and somebody may be interested in it? Both my parents were then ...
24.03.2014
Diagnosis CBAVD and PID
Dear expert team, due to the diagnosis azoospermia of my husband we have been sent to genetic counselling. Suspected diagnosis: translocation. Result of the molecular genetic investigation of my husband: for the intron 8, the allele combination 55/7T has been found. Therefore, the suspicion of ...
25.03.2014
F508del+L206W mutations (suite)
Hello, thank you very much for your answer and your support. During pregnancy, Cystic fibrosis had been suspected prenatally in our daughter (and confirmed one week after her birth), she is since then followed by one CF doctor-pediatrician. We had a first disappointing contact with a geneticist ...
24.03.2014
Classification of the illness possible? What to do?
Hello, many thanks for your help in advance! Please tell me, how I have to react to the following conditions in order to find out, if I suffer from CF and what I can do in order to impede the development of further clinical symptoms: Age: 36, male, in the frame of a genetic investigation at a ...
28.02.2014
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