Topics

PCT 124
Dear expert advice team, I have the following mutations, 508 and R 1066C. Since R1066C is a so-called nonsense mutation: Could you inform me if PCT 124 can be a cure in this case or makes treatment more effective? Is there already a date when this drug will be available? Thank you very ...
24.02.2009
PCT 124
Does PCT 124 help in case of cftr dele 2,3?
24.02.2009
Wilson disease
Where I can do genetic analysis and how much is it?
24.02.2009
Chance of having CF
If one person has a standard risk of 1 in 32 to have CF and his partner is a carrier, how much chance is there that these two people will have a child with CF?
16.02.2009
Gene
Do people with CF have CF-gene, or does everybody carry a CF-gene and do people with cystic fibrosis have a mutation in the CF-gene?
16.02.2009
How long will it take to have the results of genotype testing
We know that my brother and his son are carrier of the Nordic CF deletion (c394del TT). My partner and I are planning to use ICSI. Because I may well be a CF carrier, we would like to be tested before we continue with this ICSI treatment. We however can only get an appointment with clinical ...
26.01.2009
F508del mutation
Should the genetic tests, which were done in 2005 and confirmed F508del mutation in both allels, be repeated for more details?
20.01.2009
CF carrier state
In case of confirmed CF carrier state in CF child's siblings (F508 del) should any additional tests be performed? Ii it neccessary, if no symptoms are present?
20.01.2009
CF carrier state
If among family members of a CF patient single symptoms characteristic for CF are present, can one assume, that they are carriers? In other words - should the genetical testing be suggested to these family members, even distant relatives?
20.01.2009
genetics
(to dr Sobczyńska) Are the mutations F508 del and R334W, if present together, severe form of CF and what is the prognosis? Should any special treatment of the CF patient be introduced?
03.02.2009
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