Topics

Possibility of CF
I am 10 weeks pregnant. After checking for 100% of CF mutations I was found to carry the DF508 mutation, while my husband carries the (c.31G>A) rs 1800072 mutation. What are the chances for CF?
09.09.2018
Mutation p997F
My wife is pregnant. After getting tested for CF mutations she was found to carry the DF508 mutation. I was checked as well, for 99.6% of pathogenic mutations, without tracing any. However, in the results it is written in small print that the investigated sample is heterozygote for the p997F(c.2991G>C, rs1800111) mutation, which is characterized as non pathogenic in the CFTR2 database. My question is what, if any, are the possible consequences for the child.
09.09.2018
Baby with possible CF
I have a 6 months old baby (weight" 7.6 kg, height 74 cm). It was born 3.9 kg in weight and 53 cm in height. I was tested before getting pregnant for CF and was found not to carry the DF508 mutation. My husband has not been tested. My baby had two episodes of bronchiolitis in a month. Some times there is dyspnoea, but the wheezing has been reduced a lot. The stool is normal. Is there a chance for CF?
09.09.2018
CF testing
I am 9 weeks pregnant and my doctor recommended to get tested for CF. The 300 euro cost is prohibitive. Do you think I must get tested?
09.09.2018
Pseudomonas cepacia
I have a child with CF who always had pseudomonas aeruginosa. Last time we were checked at the lab we had cepacia. I repeated the sputum cultures in three different labs. All three reported pseudomonas, but the first one reported again cepacia. What can I do to find out positively what kind of microbe my child carries? I live in the county.
09.09.2018
CF mutations
After genetic testing for CF my wife was found to be a carrier of the c.3635G>T mutation. According to the results the aitiopathology of the mutation is not defined and the mutation is considered to be of unknown clinical significance. I was tested as well and found to carry the c579+3A>G mutation. Both tests were for 99.9% of CF mutations. What is your opinion about the chances for a healthy fetus?
09.09.2018
Price of CF testing
How much does the cf testing cost?
09.09.2018
Chance for CF
I am 36 years old. Since I was a child, I had frequent respiratory infections (and pneumonia). I was born in 1982 and had a sweat test when I was young, due to the frequent chest infections, with negative results. I was diagnosed with allergic bronchial asthma. I have chronic sinusitis and I had an operation about it. Despite the operations and the may antibiotics I have taken, it does not go away. My doctor had me to have the sweat test two years ago at Agia Sofia Hospital, and the results were negative again (26). Is there any chance for the symptoms to be caused by CF, and the results of the sweat tests to be false negative? Do I need to get further testing to exclude the possibility of CF once and for all?
13.08.2018
CF carrier
We were not genetically tested for CF and now there is no time left. I would like to know if a carrier of a CF mutation is totally without symptoms, and the only way to find out is dna testing? Thank you!
03.08.2018
Genotype 7T/9T & 10TG/11TG
I am 14 weeks pregnant and I was tested for 99.6% of the CF mutations. No pathological mutation was detected, but the answer wrote "Genotype 7T/9T & 10TG/11TG". Is this something I should worry about? Thank you!
20.07.2018
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