Topics

Mutations
Hello Could you give me some information about the mutations F508delta and S466X. I know that some touch more organs than others. Thank you
06.02.2017
Mutations TG12T5 and 1601F (or I1601F)
Hello, I have just learnt that I carry these two mutations and I would have liked to know more about them. Thanks to all those who can enlighten me.
30.01.2017
To have children - CF in the family
Hello, the good brother of my husband has a child with CF. Now my husband and I think about family planning and we are asking us the question, if we were carriers. Can we have a test done for free? According to our general practitioner, we have to pay the test ourselves (7000 Euros). Can the ...
20.01.2017
Genotype F508del/174del A/K14X
Hello, we just got the diagnose of CF in my 2-year-old son, just a few days ago with the above mentioned mutations. What does the mutation really mean? Is that a mild or a severe mutation? Is it rare? Unfortunately I cannot find anything online. Many thanks in advance.
16.01.2017
Genetics
Hello, if a complete sequencing of the gene had been done 4 to 5 years ago, however the symptoms persist (mucus, colonization, pancreatic insufficieny, normal sweat test), does it make sense to have a new genetic investigation done after these years? Many thanks!
07.11.2016
Sweat test and diagnostic algorithm
Dear expert team, I have read the legal disclaimer and hope my question is possible. I do not want to get a diagnosis of course, however I am looking for further, additional expert opinions. Our son, 6 years old, is at the moment investigated for CF. This was because I had been on rehabilitation ...
07.11.2016
Mutation c.3718-3T>G and deletion of exon 16 to exon 20 heterozygous found
Hello dear experts, my daughter (today 12 weeks old) has been diagnosed to suffer from CF after she had a sweat test at the age of 5 weeks. A molecular genetic investigation had been done. Via this investigation, a heterozygous c.3718-3T>G-mutation in combination with a heterozygous ...
29.07.2016
Mutations F508del and R553X
Dear expert team, Our son has been diagnosed to suffer from CF at the beginning of January at the age of 9 weeks, after we had been admitted to hospital with a hemoglobin value of 6. The little boy became 2 blood transfusions and takes zinc tablets since then, as he also had a zinc deficiency. ...
24.06.2016
Combination of the mutations c.650A>G and F508del
Dear expert team, In the frame of the genetic counseling the named mutations have been found in my boyfriend (F508del) and in me (c.650A>G). We are aware of the fact, that in case of family planning the probability is 25% to get a child suffering from CF. 1) Do you know anything about this ...
04.06.2016
Transmission risk
Hello We are expecting a boy. As part of prenatal diagnosis, the father and I made blood screening for cystic fibrosis. Initially, the results came back negative (with the set of the thirty most common mutations). However, this Friday we learned I was carrying an unknown mutation of the gene ...
13.05.2016
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