Topics

Middle forms
Hello, I am carrying the mutation F508 and my spouse th mutation 3849 + 10kbc> T. Is it possible to know how many people have the F508 / 3849 + 10Kbc> T in the French register? And have the newborns F508 / 3849 + 10Kbc> T been tested for Guthrie? What are their symptoms? Thank you for your help. ...
14.02.2017
Genetics, healthy carrier information
Hello, I ask myself this question: is it possible to know with the guthrie test if a baby is a healthy carrier of a gene causing later cystic fibrosis for his children and in this case if the families are warned. Thank you for your reply. Best regards.
14.02.2017
Mild forms
Hello, I am the mother of a 8-month-old little boy with cystic fibrosis. It is said that he has a mild form of the disease ( f508-r347h ) without pancreatic insufficiency for now. He has no other symptom than a loss of salt. His disease took time to be detected because the low level of sweat ...
06.02.2017
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
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