Topics

Borderline sweat test results/genetic testing
Hello, I am a woman of English descent living in Finland and my family has a history of cystic fibrosis. I have a history of nasal polyps, recurrent pancreatitis, recurrent sinus infections and intestinal ileus. I also have a fatty liver and pancreas divisum. My gallbladder was removed because of ...
22.10.2013
F508del and G542X
My 4 months old son has been diagnosed with CF. He has the above mentioned mutations. How severe is this combination? I'm extremely worried about what might happen to him one day. Thank you.
15.10.2013
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
genetics
what means c.2183AA>G Thank you
23.10.2013
Please help me understand CF mutations.
Hello, I previously asked this question which was not answered. I am hoping to receive some information. My husband and I are in the process of electing PGD and would like to know what clinical symptoms, if any, we can expect in offspring with the following mutations: Husband: one copy ...
07.04.2014
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 ...
22.08.2013
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 ...
30.07.2013
Negative for R117H, positive for 5T
Hello Doctor, We are trying to find as many information possible about this, because we are going to do IVF in the next weeks. Both myself and my husband tested positive for the 5T allele, but negative for the rest. I was wondering what are our risks for our baby? All that I found is that we have ...
29.07.2013
how serious
my daughter has g551d and 3659del c.how severe is this?
25.07.2013
Mutations del F508 and 4382del
What are the implications of having the combo of these 2 mutations for my niece in terms of physical effects, severity or mildness, and outcome? I have found only a little on the 4382del mutation on the internet and 2 individuals are living past there 50s. Thank you for any and all information ...
29.07.2013
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