R117H 7T/7T Heterozygous
Hello - MY 2-week old daughter is Heterozygous R117H 7T/7T. What are her risks of having CF? IRT is low, and sweat test is coming next week. Thank you.
Daughters CF test
We recently received a "presumptive positive" result for our newborn daughter's CF test, with a result of "Heterozygous (R117H, 7T/7T)" and an IRT level of 52. Having read a little about this specific mutation, it seems possible that she might simply be a carrier, and may never show symptoms. Can ...
newborn with Del f508 and 5T-TG12
Hello My baby boy was screened in California and tested positive for Del F508 and 5T-TG12 variant. His initial sweat test was 20 at 5 weeks of age. Therefore, he is not classified as CF but will be monitored throughout his life. I understand his mutations can put him into a healthy or mildly sick ...
Echogenic bowel
Since the 24th week of pregnancy, our unborn first child has had an echogenic bowel. After infections were ruled out, and chromosomal aberrations, bleedings and placentar insufficiency were regarded as very unlikely, we had our blood tested for any CF mutations. My husband was found to have dF508, ...
Gene mutations DELf 508 and 3300_3014del
Dear Experts, I´ve already asked in March but my question has not been answered (up to now), so I try it again: I would like to know, if there is any information about the Mutations-combination: delta f 508 c.1521_1523 del and 3300_3014del, heterozygote? What kind of Mutation is the ...
My husband was recently diagnosed positive for one copy of the R117H mutation (R117H heterozygote, homozygous for 7T). He was negative for the 5T variant. We plan to have genetic counseling. What exactly does this mean for him and for us if we have children?
G542x/5t and pseudomonas
Good day, Can you please provide me the symptoms that someone with the above genes can have? My 7 year old son recently was diagnosed with PA and is waiting for the results for the second sputum test. I was told that he might have more than usual sinus infections and the possibility of the ...
G542X /5t and PA
My 7 year old son was diagnosed with carrying g542x and 5t. This diagnoses was made when he was 6 years old after experiencing syringeal akrokeratoderma in his hands (exesive wrinkling of the palms) He has a sweat test of 39 and then 40 The wrinkling of the hands only lasted for about 3 months. ...
CF yes or no?
Hello, My 4 month old daughter have F508del and R117H (7T,9T) What are the risks to have CF? Thank you
gene mutation heterozygotes
dear All, My boyfriend received the diagnosos Cf, mutations delta f 508 c.1521_1523 del and 3300_3014del. I tried to find something about this mutations, without success so far. Could you tell me more about this (second part 3300_3014) of the heterozygotes mutation. Kind regards, Georgina
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