Topics

Mutations del F508 and 4382del
What are the implications of having the combo of these 2 mutations for my niece in terms of physical effects, severity or mildness, and outcome? I have found only a little on the 4382del mutation on the internet and 2 individuals are living past their 50s. Thank you for any and all information ...
31.07.2013
Negative for R117H, positive for 5T
Hello Doctor, We are trying to find as many information possible about this, because we are going to do IVF in the next weeks. Both myself and my husband tested positive for the 5T allele, but negative for the rest. I was wondering what are our risks for our baby? All that I found is that we have ...
12.08.2013
how serious
my daughter has G551D and 3659del c. How severe is this?
29.07.2013
Prenatal diagnosis
Hello, we are a couple desiring a child. I'm Breton [inhabitant of Brittany, a region in France] and my husband has a cousin who has CF. Is it necessary to make an ante-natal or prenatal screening or a specific follow-up? Thank you.
30.07.2013
Question on the genetic testing of the sibling/carrier yes or no?
Hello, we have a child with CF, as mutation deltaF508 homozygously has been detected. A genetic testing of us parents revealed, that my husband, as well as me are carriers of the deltaF508. Now a genetic testing of our second child had been initiated. CF had been excluded via sweat test. ...
15.07.2013
newborn with Del f508 and 5T-TG12
Hello My baby boy was screened in California and tested positive for Del F508 and 5T-TG12 variant. His initial sweat test was 20 at 5 weeks of age. Therefore, he is not classified as CF but will be monitored throughout his life. I understand his mutations can put him into a healthy or mildly sick ...
15.07.2013
Diagnosis
Hello, our son was born via cesarian section due to fetal ascites in case of meconium peritonitis due to meconium ileus and volvulus. The genetic investigation showed a mutation in exon 10 of the CFTR gen c 1521_1523del (p.Phe508del) and in intron 10 of the CFTR gene c1585-1G>A (c1717-1G>A) ...
15.07.2013
polymorphism 7T and 9T
Performing the genetic test for 38 mutations of the CFTR gen, it came up to be negative, they detected 7T and 9T polymorphism. How important is this polymorphism, especially from the point of view of diagnosis and clinical examination. Thank you very much.
08.07.2013
We don't know if our girl has CF, it's not sure yet
A blood sample for the genetic testing was taken just to exclude CF. If me and my husband are not CF carriers, is it possible for our child to have it? Or is it possible when both parents have CF?
08.07.2013
What does the following term mean: Heterozygous carrier of the Delta-F-508 mutation?
Hello, today I got the result from the children's hospital per mail for my 16-year-old son, i.a. a molecular genetic investigation has been done. The result is the following: "Heterozygous carrier of the Delta-F-508 mutation in exon 10 of the CFTR-gene." As those medical terms do not mean ...
08.07.2013
<<  < 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13  ...  37 >  >>