Topics

CF
My eleven-month-old son had a test carried out when he was three months old. The result showed that he has 74 mmol/l of chloride in his sweat. He weighs almost 12 kilos and so far he hasn´t been ill except cankers in his mouth. A genetics test confirmed that he has 2 CF-typical genes. I would like ...
22.11.2011
Gene Mutation
I have been diagnosed with deltaF508 and 2789+5G>A gene mutation. What is my future prognosis and is it a mild or a serious CF form?
13.12.2011
Healthy Carrier
My husband is a healthy career of dF508/non genome. Is he liable to have the same health problems as CF patients but in a less serious form? Can his condition influence his liver function?
13.12.2011
Having children while being a person with CF
If one is affected with CF can one have normal children ?
15.11.2011
mutations
Hello The 2 mutations p.W1204X et p.I507del led to which clinical profile? Thanks for your help.
15.11.2011
healthy carrier
Hello, I am a healthy carrier of delta F508, and I wanted to know if there was no risk of having a child with cystic fibrosis knowing that my husband does not carry the gene! waiting for a response Cordially.
05.12.2011
Healthy carrier and desire for children
Hello I am writing because my husband is a healthy carrier (for cystic fibrosis). If one day we want a child how do I make the test for me?
14.11.2011
Gene sequence
My husband was tested for CF at Horemion. According to the answer we received the results are not indicative of any presentation of a CF mutation, but one change was detected in the sequence of the CFTR gene (2752-15G/C), which, due to its location, is considered neutral without any pathological ...
14.11.2011
Chromosome 13
After the amniocentecis the mutation DF508 was detected in the embryo in heterozytotical form. In the test results it is mentioned that a molecular screening is necessary, which was conducted at Horemion laboratory. It is also mentioned that the analysis regarding chromosome 13 was not ...
14.11.2011
Symptoms in healthy carriers?
Hello, At time of diagnosis, I was told that healthy carriers showed no symptoms. After meeting other parents of children with CF, I realize that many of us have chronic respiratory or digestive problems (asthma in my case). But I don't know if these observations are representative of all ...
10.11.2011
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