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Topics
- CF test?
- As part of an infertility treatment it was found out by a gene test that my husband has a genetic disposition for cystic fibrosis. After ICSI (Intracytoplasmic sperm injection) we have a daughter. Besides a chronic recurring sinusitis with very viscous mucus she has no signs of a disease. I do not ...
- 11.09.2013
- Cystic fibrosis
- I do not know if I am right here, however I am desperate at the moment and do not know what to do next. In my son, 2.5 years old, the mutations Q1035X in the CFTR data base and D1152H in the CFTR as well as in the CFTR 2 data base have been detected (after 4 negative sweat tests). What does this ...
- 09.09.2013
- Possible medicamentous treatment of this form of mutation?
- Dear expert team, I have already asked a question about the respective CF mutation form of my son; many thanks for the extensive answer (see below). Now, I would also like to know if there will be a medicamentous treatment for my son’s mutation form in the near future? Best ...
- 31.07.2013
- D1152H and G85E
- Hello, my son (5 months plus) has inherited the D1152H and G85E mutations. His sweat test at 14 days old came back borderline at 33. His first two fecal elastase tests came back borderline, but his most recent test came back normal. Overall he has been healthy thus far. Any info on these two ...
- 31.07.2013
- 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