Topics

Nucleoitc change of unknown significance
I am 16 weeks pregnant and I was tested for 99% of CF mutations for purely preventive reasons, as there is no history of CF in my family, or in my husband’s family. The results showed the nucleotic change c.1001G>A (.Arg334Gin) in the CFTR gene in heterozygote condition and that there are not ...
09.02.2018
Genotype 7T
I am 12 weeks pregnant and have been checked for CF mutations (47 mutations). The results were negative for the most frequent mutations (46 mutations). The sample shows the genotype 7T/7T at position IVS8 polyT in the CFTR gene. Is it something I must worry about? My spouse has not been tested. ...
19.01.2018
Carrier of CF mutation
I am 34 years old at 21st gestational week. I am a carrier of r75Q after checking for 85% of CF mutations. My husband was checked for 99% of CF mutations and he was found to carry S977C (unknown clinical importance). The genetist expert advised us not to proceed to amniocentesis, since the mutation ...
19.01.2018
Cystic Fibrosis
After the genetic testing for CF mutations my wife was found to be a carrier of the c.476T>C, L159S exon 4 mutation. She is now 16 weeks pregnant. I am being tested for the 95% of CF mutations. In case I am a carrier of a CF mutation, what chances does the fetus have to suffer from CF and what kind ...
07.01.2018
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
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