Topics

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
Carrier of F1052V and husband negative for 90% of mutations
I am 17 weeks pregnant. During the 13th week of pregnancy I and my husband were tested for the 90% of CF mutations at Horemion Lab. Today I was informed that I carry the F1052V mutation, whereas my husband tested negative for the 90% of CF mutations. Do you thing that we should check the other 5% ...
20.05.2014
Mild CF mutation
I was tested for CF at Horemion Laboratory [Greece] and came up positive for a very mild mutation, which is considered neutral without pathological consequences. The geneticians, as well as my gyneocologist, told me not to worry and that it was not necessary for my husband to get tested because, ...
19.05.2014
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