Topics

Suspicion of CF
Hello on your site again, Still with not that many answers to my questions regarding the diagnosis of my child who is now 15 years old. I'd like your opinion, my son is pancreatic insufficient, so he takes Creon. He had 3 sweat tests all positive, but the genetic test is negative!! He has a ...
15.09.2014
p.F508del
Hello, We just received the two mutations of our daughter. The p.F508del and c.3140-26A> G (3272-26A> G) Please, what will be the common impacts of these changes even though I know it varies from one individual to another? Thank you in advance for your help and feedback.
10.09.2014
CF mutation
Hello, can you explain what does it mean that the F508del mutation of the CFTR gene has been found in my 5.5 year-old daughter, and what are the consequences for her respiratory as well digestive health? Thank you
10.09.2014
G542X
G542X heterozygous mutation and polymorphisms 7T and 9T from a villous biopsy- does this mean a healthy carrier status? (Given that I have a child with the mutations G542X and deltaF508 heterozygous)
29.07.2014
Hello
I have one-year-old boy diagnosed with cystic fibrosis at 6 months. We did the genetic test and the result was: M - G 542X heterozygous; 9T. Child‘s doctor says that the outcome would be a milder disease and he does not believe he will have major problems in the future. But another doctor said ...
15.09.2014
interpretation of cystic fibrosis result
Hello, can you please help me to interpret a result? Methodology: DNA was extracted from fetal cells from the culture. DNA molecular analysis for cystic fibrosis detection was performed using the kit "Genetic Cystic Fibrosis Assay 'ver March 19, 12, which detects 38 mutations plus genotype Tn. ...
29.07.2014
Mutation
Mutation c.-8G>C (rs1800501) homozygous Dear expert team, this above mentioned mutation is in the genetic result report of my daughter, who is 4.5 years old and suffers constantly from birth on of obstrucitve bronchitis. She has already had 3 pneumonias and partly, if the mucous congestion of ...
28.07.2014
Newborn screening and sweat test
Dear expert team, my daughter (18 month old) suffers from her 15th week of life on of chronic productive cough of unknown origin. Three weeks after the cough had started at that time, she got a long lasting bronchitis (RSV negative April 2013), that did not resolve. With the inhalation of ...
21.07.2014
Chance of CF for a fetus
Ι am in my 22nd week of pregnancy and the fetus was diagnosed with hyperechogenic bowel grade II. I did not have any bleeding during my pregnancy. After the recommendation of my gynecologist I did an amniocentesis and I and my partner gave a blood sample. The amniotic fluid and our blood was ...
03.06.2014
Possibility of CF - DF508 traced
Τhe embryo was found to carry the DF508 mutation. I and my husband were tested and it turned out that the DF508 mutation is also carried by my husband. We expect my results (95% of CF mutations checked). We were informed that in case I am found to carry one other mutation, the embryo must be ...
20.05.2014
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