Topics

Genetic testing
Dear ladies and gentlemen, for our daughter, there had been the suspicion of CF, after the third test it could be excluded. We are planning a child at the moment, can we get tested in advance that we can exclude, better say if our chances for a healthy baby are good? Many thanks
22.02.2011
Lungs or pancreas - clinical trials
Is there anything for the mutations ending in ...X. When will it be available in Greece? Does it concern the lungs or the pancreas. Thank you!
18.02.2011
CF mutations
Good evening! I have a baby boy six months old. When he was 3 days old he was operated for ileus due to meconium. The surgery went quiet well and immediately after the baby was tested for cf and two mutations were found (c.621+1G>T/p.G85E). Up to now he is very well and suffers only from pancreatic ...
18.02.2011
5T-variant
What means: ....the 5T-variant (IVS8: TG11-5T/TG11-7T) could be detected in the polypyridmidine tract in intron 8 of the CFTR gene in heterozygous condition. Many thanks!
13.02.2011
Twins
If a twin suffers from CF, is the other child also ill or can it be totally healthy?
09.02.2011
Mutation
Hello My daughter has CF and is almost 4 years old. She is clearly pancreatic insufficient and has a rather moderate pulmonary impairment, (say Staphylococcus colonization, and started Pulmozyme 6 months ago) with mutations deltaF508 /1898 +1 G> A. I failed to get information from my CF Center ...
08.02.2011
Search for a similar genotype
Hello my son was diagnosed CF at birth. His mutations are 508 del F and P5L. 3 sweat tests showed very diferent results (from positive to negative). He’s regularly followed in a CF Center, is today 3 years of age and luckily does not present any symptom of the disease. Is there an identical ...
02.02.2011
genetic tests
Where can be done genetic tests for both, in order to find if we are genetically compatible? we want to have a child and I had a miscarriage (loose a pregnancy in 6 weeks), without any reason.
13.01.2011
Q493X
My daughter has just had Q493 identified as her second mutation. (She also has D508) Can you tell me anything about Q493 as it seems fairly rare?
11.01.2011
genetic testing
My partner was previously tested for cystic fibrosis. My partner doesn’t seem to have CF. Now we would like to have children but we wonder if (especially my partner) needs to have a genetic test done. His grandmother carries a CF gene. I have doubts because my partner was tested previously.
02.12.2010
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