Topics

Genetic test
Hello, My boyfriend has cystic fibrosis. We would like to know wether I am or not a carrier of the mutated gene before considering to have a baby. We looked on the internet and apparently I should do a blood test, but where can this test be done?
07.10.2013
Cystic Fibrosis
Dear experts, a sweat test has been done with my 6-month-old son. The values were above 60. The test searched for 27 mutations, but nothing was found. What does this mean exactly? He is in Russia for the moment, but he will come to Belgium in October.
26.09.2013
Variant I 1027 T
I am a mother of two sons who have CF. The reason I am reaching out to you is that my sons' genetic combination is the Delta F508 and I1027T. During my research, I discovered that there are only 41 people worldwide with this particular combination and some of them are in Brittany, France.  ...
26.09.2013
Polymorphisms
I am in the 26th week of gestation. My husband was checked for 95% of the CF mutations and only a polymorphism was detected. Is it necessary for me to get checked, or does the polymorphism does not cause any issues, whether or not I am a carrier? Thank you.
23.09.2013
CF Diagnosis
My nephew has recently been diagnosed with cystic fibrosis. This has been devasting news for the entire family. The genetic report received reads as follows: This individual is heterozygous for both the p.R1088C and p.G542X mutations in the CFTR gene. The combination of these mutations would be ...
11.09.2013
Two Class I mutations
Hi our son has two class one mutations, 3659delC and 2183AA>G. My research has shown that these are both frame shift mutations. Are there any drugs or studies for people with two Class I mutations?
11.09.2013
CF test?
As part of an infertility treatment it was found out by a gene test that my husband has a genetic disposition for cystic fibrosis. After ICSI (Intracytoplasmic sperm injection) we have a daughter. Besides a chronic recurring sinusitis with very viscous mucus she has no signs of a disease. I do not ...
11.09.2013
Cystic fibrosis
I do not know if I am right here, however I am desperate at the moment and do not know what to do next. In my son, 2.5 years old, the mutations Q1035X in the CFTR data base and D1152H in the CFTR as well as in the CFTR 2 data base have been detected (after 4 negative sweat tests). What does this ...
09.09.2013
Possible medicamentous treatment of this form of mutation?
Dear expert team, I have already asked a question about the respective CF mutation form of my son; many thanks for the extensive answer (see below). Now, I would also like to know if there will be a medicamentous treatment for my son’s mutation form in the near future? Best ...
31.07.2013
D1152H and G85E
Hello, my son (5 months plus) has inherited the D1152H and G85E mutations. His sweat test at 14 days old came back borderline at 33. His first two fecal elastase tests came back borderline, but his most recent test came back normal. Overall he has been healthy thus far. Any info on these two ...
31.07.2013
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