Topics

Diagnosis CBAVD and PID
Dear expert team, due to the diagnosis azoospermia of my husband we have been sent to genetic counselling. Suspected diagnosis: translocation. Result of the molecular genetic investigation of my husband: for the intron 8, the allele combination 55/7T has been found. Therefore, the suspicion of ...
25.03.2014
F508del+L206W mutations (suite)
Hello, thank you very much for your answer and your support. During pregnancy, Cystic fibrosis had been suspected prenatally in our daughter (and confirmed one week after her birth), she is since then followed by one CF doctor-pediatrician. We had a first disappointing contact with a geneticist ...
24.03.2014
Classification of the illness possible? What to do?
Hello, many thanks for your help in advance! Please tell me, how I have to react to the following conditions in order to find out, if I suffer from CF and what I can do in order to impede the development of further clinical symptoms: Age: 36, male, in the frame of a genetic investigation at a ...
28.02.2014
Medical interruption of pregnancy / cystic fibrosis
Hello, I am at present in the 7th month of pregnany. The baby has just been diagnosed with cystic fibrosis. I would like to know if it is possible to practice a medical interruption of pregnancy.
27.02.2014
F508del+L206W mutations
Hello, we transmitted to our daughter the F508del and L206W mutations. She is one month old today and has already a severe gut disease (very short small intestine after a meconium ileus). The L206W mutation seems rare in France. What grade of severity of lung disease have similar compound ...
27.02.2014
Few elastase in the stool
Hello, In my son (4 years old), very few elastase could be found in the stool and four sweat tests had already been done (in two different CF-centers), all positive. On the other hand, the genetic testing was negative. Can it be that he has "only" problems with the pancreas? The physicians ...
17.02.2014
Kalydeco® off-label
Dear expert team, my son has the following CFTR mutations: 1717-1G>A (class 1) und die mutation S549R (gating/connection, class 2 oder 3) Kaleydeco ® has indeed at the moment only market authorization for the class 3 mutation G551D. However, tests with other mutations have been done. There it ...
12.02.2014
CF carrier
Hello, I had a dry test and I am carrier for CF. After my results, my husband had a test(38 mutations) and he has the result: 1. No pathological mutation was detected 2. 7T polymorphism was detected. What does it mean? Might the child have a health problem? Thanks
12.02.2014
Query for testing
My daughter is 10.5 months old, weighs 9.2 kgr and is 77 cm tall. Her growth up till now has been always good. Her bowel movements are regular throughout the day. I have not observed anything special as far as smell or quantity is concerned. Since 3 weeks my daughter has a cold and wet cough that ...
27.01.2014
Mutations
Hello, my child has 3396delC mutation and M1101K mutation. Can you tell me something about these mutations? Thank you in advance.
20.01.2014
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