Rare mutation
Dear expert team, my son is 20 years old and suffers from CF with a combination of delF508 and 525 delT.-Mutation. I am interested to which group of mutations the second mutation belongs (exon 4-frameshift) and if my son was a candidate for the new triple combination of VX-445. Best regards,
Effects of atypic CF F508del/p.Thr582Ile
Dear expert team, I am 20 years old and a few years ago, the above mentioned mutation has been found, however the physicians were not able to give me a real prognosis. My sweat test was inbetween normal and pathologic. The mutation had been found after I had several pancreatitis episodes, ...
Dear expert team, our daughter has the mutation detal F508 and c.1730A>T. Is there any information about this combination? Thank you
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!
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