W1282X und R347P
Dear expert team, what is the latest research concerning the above mentioned mutations? Will there be any drugs soon that correct the genetic defect? Thanks
CF and intolerance of acetylsalicylic acid
Dear ladies and gentlemen, I care for a 17-year-old patient with CF: homozygous for c.358G>A, p.(Ala120Thr), pancreatic sufficient, first diagnosis made at the age of 17; symptoms: nasal polypes for 1 year (polypes were removed 09/17 and 07/18), no pulmonary symptoms, normal lung function, ...
Price of CF testing
How much does the cf testing cost?
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. ...
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 ...
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?
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!
Wish to have children
Dear team, my partner and I, we want to have a child. Until now, it did not work and now an azoospermia came out in my partner. The urologist said, we could have a genetic investigation done, if he wanted. My husband (31) has no symptoms. He hasn't any problems with digestion, nor with the lungs ...
c.274-6T>C and ΔF508
I want to get pregnant and I was tested for CF. I was found to carry the C274-6T>C mutation and the DF508 mutation, one from my father and the other from my mother. It was suggested that my husband must be tested due to the DF508 mutation. For the other mutation I was told that the data are ...
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!
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