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. ...
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.
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 ...
Hello Could you give me some information about the mutations F508delta and S466X. I know that some touch more organs than others. Thank you
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.
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 ...
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.
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!
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 ...
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 ...
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