Topics

Forms of mutations
My son has been diagnosed to suffer from CF additionally due to a meconium ileus and at the same time a pathological result of the newborn screening and a subsequent sweat test. After a detailed analysis of the genetic testing we got the result of the kind of mutation: DF508/del.13/14a. As I ...
18.06.2013
Chorionic villus sampling (CVS)
I would like to know how long I have to wait for a first result after a chorionic villus sampling (CVS) with respect to cystic fibrosis? Many thanks
17.06.2013
Genetic testing of a sibling in spite of negative sweat test?
Dear expert team, we have a daughter at toddler's age suffering from CF as well as a son of 7 years. At the time the diagnosis of CF was made in our daughter, we also had a sweat test done to our son. This test showed a value of 11 mmol/l in the normal range. The sweat test had been performed ...
12.06.2013
Siblings of children with CF
My firstborn child is 16 and visits the doctor just for vaccinations, as does my second born who is 10 years old. Their little brother is 3 years old and has CF. Do they need to be tested? The truth is that just the idea of testing makes me very anxious. The oldest one is in her last year at ...
12.06.2013
healthy carriers
My niece has CF, the whole family has been tested and two other children are carriers. So 1 out of 7 children has CF and 2 are carriers. The other two children are compared to the non carriers often sick, so I told my sister in law who I thought was carrier of CF in her family. This was ...
03.06.2013
Gene mutations DELf 508 and 3300_3014del
Dear Experts, I´ve already asked in March but my question has not been answered (up to now), so I try it again: I would like to know, if there is any information about the Mutations-combination: delta f 508 c.1521_1523 del and 3300_3014del, heterozygote? What kind of Mutation is the ...
03.06.2013
G542X /5t and PA
My 7 year old son was diagnosed with carrying g542x and 5t. This diagnosis was made when he was 6 years old after experiencing syringeal akrokeratoderma in his hands (exessive wrinkling of the palms). He has a sweat test of 39 and then 40. The wrinkling of the hands only lasted for about 3 ...
29.05.2013
Splicing mutations
Do you know whether there are or there will be clinical trials on CF patients carrying a splicing mutation (other than stop-codons)? Additionally, can you tell me whether VX770 (for G551D mutations) and VX770/VX809 (for homozygous F508del mutations) will be further tested in patients with any kind ...
07.05.2013
Potential cystic fibrosis
Me and my husband are CF carriers. I have the F508del mutation and my husband the R117C. We have a two year-old daugter with a mild CF and a five and a half year-old son with the F508del mutation. Some doctors and genetists say that my son is simply a carrier, even though he has two sweat tests at ...
10.05.2013
CF
Can you also have a mild form of CF? I mean that you are not sick even if you have a low lung capacity.
06.05.2013
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