Topics

Mutation 3199del6
Hello My 6 year old son has CF with mutations F508/3199del6. I try to find on the net the classification of mutation 3199del6 but I cannot find any information about it. I inform you that my son was not born in France, no neonatal screening was done where we live. According to your explanation, ...
24.02.2017
Mutations F508del / L227R
Hello, My 3 year old son has cystic fibrosis that was diagnosed less than a year ago. The two mutations found were F508del and L227R. As we live in Morocco we do not have a genetic counseling center that can tell us the degree of severity of this type of mutations and how this will develop in the ...
24.02.2017
Moderate forms
Hello, My son 9 months old, has moderate form cystic fibrosis F508 / R347H. He is to this day without symptoms, without pancreatic involvement. I do not understand the term "mild" since I am told that this can evolve into a classic form like staying moderate. Do moderate forms have a somewhat ...
14.02.2017
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
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