Topics

genetical tests
Genetical tests were done in the whole family in 1992 without assessment of mutations. One mutation was detected in a sick child (F508 and R553X). Is it possible to assess this mutation in the second daughter in connection with the fact, that she was diagnosed as being a carrier? Regarding the ...
03.02.2009
genetical testing
My son 20 years ago underwent genetical testing in Poznań. It turned out, that he has F508 del mutation. On this occasion his mother, father and sister were also tested. Does it make any sense to perform another genetical testing in my son? Will the results of the tests influence the possible ways ...
02.02.2009
another genetic testing
(to dr A. Sobczyńska) The child was examined and has F508 del mutation (examination was done 11 years ago). Should I examined the child again toward another mutation? The second child is not sick (sweat test). Should I perform genetic tests in the second child toward a CF carrier state?
02.02.2009
CF and diagnostics
With people carrying both a mutating and a normal CFTR gene (i.e., genetic carriers), is it possible to diagnose whether they are carriers even if they do not have CF? Please reply.
12.01.2009
Stem Cells
Hello, Our first son is affected by Cystic Fibrosis. Currently I am pregnant again and heard about archival storage of stem cells from the umbilical cord. Is there really any sense in investing a lot of money there? Of course we would hope that science might be thus far advanced one day that our ...
13.11.2008
Risk of CF gene in child
I am not carrying the CF gene, but the father is. How big is the chance that my child has the CF gene.
20.11.2008
Cystic Fibrosis
Hello, we have 3 daughters, the one in the middle died 1976 at the age of 5 years of Cystic Fibrosis. The two other children are healthy. The oldest daughter has two healthy children. The youngest daughter would also like to have children. My question: As my wife and I are carriers of the ...
20.11.2008
Another question on the answer of Prof. Stuhrmann-Spangenberg about 7T-allele
Dear Prof. Dr. Stuhrmann-Spangenberg You write as an anwer to a question among other things: "One should make a comment on the genetic variant R117H: this variant can exist on two genetic backgrounds, one so-called 7-T-allele or a 5-T-allele. The latter would be graded as a CF-mutation, the ...
08.01.2009
Inheritance of CF
Dear experts, can you tell me, if a child of parents, both suffering from CF, will be born with CF in any case? Or is there a chance that such a child will be born healthy or as a carrier? Best regards,
16.06.2008
Probability of outbreak
Dear experts, I got the information yesterday that in case of my dauhgter (7 months) 33 mutated genes of rh117 have been detected. Test (OLA POR). She has been named as a healthy carrier of the gene defect. She is told to do a sweat test now. What does that mean? Can this illness break out? ...
15.09.2008
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