Topics

False negative CF screening test
Can you explain how a negative CF screening test (at birth) can be a false negative ? Are such cases common? How can this happen? My son had this test done at birth, it was negative. After four months, and after many visits to the hospital, it turns out that he is suffering from cystic fibrosis.
29.04.2014
Disease Causing or not?
Hi, my 18 month old son's CFTR renotyping results are back. He is heterozygous for; c.[1521_1523delCTT] + c.[1584G>A] they also found sequence variants of limited or no known clincal significance; c.744-31TTGA[5]+[6] c.869+11C>T c.1210-12T[7]+[9] (poly T ...
08.04.2014
Diagnosis during pregnancy
Hello, mother of a 18 months old girl with cystic fibrosis, I'd like to get more information about the methods of detection of CF during natural pregnancy. At what point of pregnancy are these exams performed? When are the results known? Thank you!
08.04.2014
genetic test
My son aged 11 years is diagnosed with CF since infancy, he was diagnosed at 2 months. He has Pulmozyme®, pancreatic enzymes, vitamins, etc. With about 4 years of age he did the genetic test in Cluj-heterozygous for F508del, but we don't know if the other mutation was identified. I would like to ...
08.04.2014
sweat test
Hello, We have a little boy, 2 years and 6 months old. From the age of two years, when he starts going in the kindergarten, he starts to get colds. In October he had an adenotomy. We have done the genetic test for 32 CF genetic mutations, but it was negative. I want to do a sweat test but now ...
08.04.2014
Carrier Testing
Dear Team, Please can I ask your advice. I am worried that my 18 month old grandson may be showing signs of CF. I am not aware of any history of cystic fibrosis in the family, but know this does not have to be a necessary factor. To avoid causing any unnecessary worry and stress to our daughter ...
07.04.2014
DNA test/risk of passing CF on to children
Hello, me and my wife plan to have children. As a CF causing mutation has already been detected in my DNA, is there a high risk that our children will come down with CF? My wife was born on the Philipinnes, I am European, and it is very hard to find information regarding the relevant mutation ...
24.03.2014
Pancreatic insufficiency without steatorrhea or other symptom
Hello, my child was recently diagnosed with CF and pancreatic insufficiency (pancreatase < 50) at age 12. He used to exhibit the symptoms described for pancreatic insufficiency (fatty and many stools, smelly flatulence, tummy aches etc) to some degree until four years ago, but upon regular ...
24.03.2014
CF diagnostics
My 3 and half old son suffer of often breathing infects and long lasting cough.Usually dry cough time to time moist cough. Is possible to have CF when he went through a neonatal screening on CF in 2010 and chlorid swap test two years ago?. Both with negative results.our doctor advices to do chlorid ...
24.03.2014
CF in blood work but no symptoms
About 12 years ago it was found that i had full blown CF according to my bloods but i've never had any symptoms - this was found as i was trying to do egg donation. I am now wondering if this is common or whether it is rare and somebody may be interested in it? Both my parents were then ...
24.03.2014
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