Topics

Cystic Fibrosis
Why is cystic fibrosis more common in light-skinned than in dark-skinned people?
22.10.2013
Ichtyosis and CF
Son suffers from ichtyosis, sweat test could not be performed, nasal test either. Genetic test has been done, however no gene has been found. Result has been provided with a question mark. Son has also diabetes 1 and celiac disease (biopsy), additionally lack of IgA and lactose-fructose intolerance ...
21.10.2013
F508del and G542X
My 4 months old son has been diagnosed with CF. He has the above mentioned mutations. How severe is this combination? I'm extremely worried about what might happen to him one day. Thank you.
21.10.2013
Genetic test
Hello, My boyfriend has cystic fibrosis. We would like to know wether I am or not a carrier of the mutated gene before considering to have a baby. We looked on the internet and apparently I should do a blood test, but where can this test be done?
07.10.2013
Cystic Fibrosis
Dear experts, a sweat test has been done with my 6-month-old son. The values were above 60. The test searched for 27 mutations, but nothing was found. What does this mean exactly? He is in Russia for the moment, but he will come to Belgium in October.
26.09.2013
Variant I 1027 T
I am a mother of two sons who have CF. The reason I am reaching out to you is that my sons' genetic combination is the Delta F508 and I1027T. During my research, I discovered that there are only 41 people worldwide with this particular combination and some of them are in Brittany, France.  ...
26.09.2013
Polymorphisms
I am in the 26th week of gestation. My husband was checked for 95% of the CF mutations and only a polymorphism was detected. Is it necessary for me to get checked, or does the polymorphism does not cause any issues, whether or not I am a carrier? Thank you.
23.09.2013
CF Diagnosis
My nephew has recently been diagnosed with cystic fibrosis. This has been devasting news for the entire family. The genetic report received reads as follows: This individual is heterozygous for both the p.R1088C and p.G542X mutations in the CFTR gene. The combination of these mutations would be ...
11.09.2013
Two Class I mutations
Hi our son has two class one mutations, 3659delC and 2183AA>G. My research has shown that these are both frame shift mutations. Are there any drugs or studies for people with two Class I mutations?
11.09.2013
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
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