Topics

Genetic testing
Our doctor suggested to me and my husband to get tested for 87% of CF mutations. If one of us is proved to be a carrier, then the test should be repeated covering 98% of the CF mutations. My question is if this kind of testing is safe, or should at least one of us be tested for 98% of the CF ...
12.12.2017
Carrier or patient?
My son is 10 months old, weighs 8 kg and is 75 cm tall. He suffered from dehydration last summer and we were hospitilised. We discovered that he carries the del508 mutation. We did two sweat tests at Hippokation Hospital and both were negative (values 22 and 23). We were tested for 85% of CF ...
12.12.2017
Mutation class R352Q/2184insA
Hello, our daughter has the following mutation: R352Q/2184insA, after intensive search I could not find the class of the mutations, even not in the database www.cftr2.org. Can you tell me; - how many people have this mutation? - to which class this mutations belong? - what does this mean ...
09.09.2017
R334W/R117H in case of 7 T variant
Dear ladies and gentlemen, we got to know, that our daughter has a mild form of CF. She has the mutation p.Arg334Trp (R334W) and on the other allel the mutation p.Arg117His (R117H) with the 7T variant in the poly-T-region. According to our knowledge, both mutations belong to class IV. ...
17.07.2017
F508del/R117H sweat test negative
Dear ladies and gentlemen, I am 33 years old. As symptoms I have only a slight “mucus feeling” in the throat, that goes away when clearing the voice. I have had a sweat test done a few days ago and had other values checked. The result of the sweat test was 19 mmol/l. Therefore truely ...
17.07.2017
Compund heterozygous for F508del and R117h
Dear ladies and gentlemen, the above mentioned mutations have been found in my case, when I (32 years old) had already been pregnant via IVF (in-vitro fertilization). I did the investigation, as these mutations had also been found in my brother when he was investiagted in a clinic for ...
12.06.2017
Heterozygous fetus of 14 weeks
After a trophoblast examination the results were negative for Down syndrome, but the fetus is heterozygous for CF. Will the baby always remain a carrier? Is there a chance for the baby to have CF? Its sister is 20 months old and normal. An amniocentesis was performed and a molecular karyotype was ...
29.05.2017
Inheritance
If I am a carrier (not ill) of a defective CF gene, have both of my parents to be carriers in order to give it to me or is it sufficient, if only one of my parents is a carrier? Many thanks for your answer.
26.05.2017
Parents - carriers of CF mutations
Good morning, I am at the 12th week of gestation with my second child, and my doctor recommended to check for CF, something my gynecologist had not recommended during my first pregnancy. I was checked for 85% of the CFTR mutations and I was found to carry the G542X mutation. My husband was ...
15.05.2017
Mutations F508del and Q220X
Hello, Our son was diagnosed at birth following a meconium ileus that caused occlusion ... I would like to have information about delta mutations F508del and Q220X. Thank you.
17.03.2017
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