Topics

mutations G542x/F508del
Good evening! My daughter carries the mutations G542x/F508del. Is she a "severe case" of CF? Thank you
27.10.2011
VX 770 & G126D
Is VX-770 suitable for the mutation G126D?
27.10.2011
Testing of eldest child
My second child has CF. Is there a chance that my eldest child has it too? It is 10 years old now and we visit the pediatrician just for vaccinations. Up to what age may CF be manifested? Should I do a sweat test to my eldest child? If it is a carrier, can I find this out easily? Is there a chance ...
31.10.2011
Genetic testing of the parents recommended - why?
We recently got the results of the genetic testing of our baby - two different mutations. Now it says at the end, that a genetic testing of the parents, including counselling is recommended. Why? Actually it is clear, that she must have one mutation from me and the other from my husband. Is it ...
25.10.2011
CF yes or no?
Hello, my son (19 weeks old) has had a sweat test 3 times and it was pathologic 3 times. Now the final result of the genetic analysis is still underway. However, I got an intermittend report: Mutation 2183AA>G (HGVS- Nomenklatur: c.2051_2052delAAinsG,Exon 14, CFTR-Gen) in heterozygous form, ...
10.10.2011
Heterozygous mutation F508del with deletion exon 17a and b
Dear ladies and gentlemen, is there any research about the above mentioned mutations? Could VX770 be also helpful here? What does the above mentioned mutation mean? We have been told that our daughter (1 year) will be with the utmost probability compound heterozygous. Many thanks for your ...
10.10.2011
DF508 carrier
I am the mother of a 2,5 years old daughter. We know that she is a carrier of the DF508 mutation, as am I. My husband has been screened and is not a carrier for all the known mutations. Should I be worried about something? She attends kindergarten for the first time this year and has a runny nose ...
04.10.2011
f508del/g576A
My child carries the mutations f508del/g576A. The genetist, that traced them, has informed us that it is an atypical form of the disease, and the only probable issue may be a fertility problem. He did not recommend us to take any further action and he told us we would not have found it out if we ...
04.10.2011
genes
Hello, What kind of symptoms are associated with these two mutations: delta F508 and N1303K? Thank you very much to enlighten me.
20.09.2011
G542X & 2183AA mutations
I have an 8 months old baby with CF with the above mutations. What can I expect in the future from these mutations? From what I read on the Internet i am scared, but my baby looks just a normal one. When do the problems begin?
25.10.2011
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