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124del23bp aka c.-9_14del23 anybody out there?
Does anybody have this rare mutation? (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - January 4, 2015 Category: Respiratory Medicine Authors: ccsalema Tags: DNA and Mutations Source Type: forums

Sweat Test after CFTR Test Negative
I am in my mid-forties and have problems with abdominal pain since I was a teenager. I have just been diagnosed with chronic pancreatitis. I had a genetic CFTR sequencing done with deletions/duplications via aCGH this past summer. The only variations that showed up in the tests were the following common variants. v470m heterozygous p1290p heterozygous t854t heterozygous g1463g heterozygous I am going to meet with the gastroenterologist next week and I was wondering if it is appropriate to ask for a chloride sweat test before ruling out cystic fibrosis as a cause. They have ruled out other causes such as alcohol, ga...
Source: Cystic Fibrosis DNA and Mutations Forum - January 2, 2015 Category: Respiratory Medicine Authors: mkpr13 Tags: DNA and Mutations Source Type: forums

i1366T
So when doing a search for this specific mutation, I have come across threads that are really old and members are no longer active here. Does anyone have this mutation (i1366t) or know someone who does? Would love to connect. Thanks! (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - December 23, 2014 Category: Respiratory Medicine Authors: Mama2Five Tags: DNA and Mutations Source Type: forums

DNA results
Well my daughter had the fecal elase (not sure on spelling, sorry) testing done, doctor at CF clinic said it came back fine, no loss of pancreatic function, so relieved!! She also had blood drawn for the Ambry full screen. We waited a little over a month till the doctor called with results. He said given her negative sweat tests and only the one known disease causing mutation he is considering her just a carrier. I was so relieved with this news I didn't think to ask what the actual results were! I called the CF clinic asking if they could fax the results of both tests to me & the receptionist stated she would have to ...
Source: Cystic Fibrosis DNA and Mutations Forum - December 11, 2014 Category: Respiratory Medicine Authors: Makmomma2 Tags: DNA and Mutations Source Type: forums

two copies of m470v (not one but two copies)
Hello, does anyone happen to have this mutation of two m470v. My 5 yr old was diagnosed at 3 for cf even though this mutation isn't suppose to be disease causing.. Famous words...I'm really tired of hearing that. Josiah my cfer has had pneumonia over a dozen times before age 3, 4 sinus surgeries, 2 picc lines hospitalitized 5 times last year, twice this year exacerbations every year �� we are now waiting for Ambry results, and as crazy as this sounds I really hope they find something. He's passed two sweat test, and he is pancreatic insufficient. He's on all the typical cf meds and treatment regiment. I ...
Source: Cystic Fibrosis DNA and Mutations Forum - December 3, 2014 Category: Respiratory Medicine Authors: Shellee Tags: DNA and Mutations Source Type: forums

502 bad gateway
I can't open some threads, for example , the one about my daughter's mutaions. When I do it says bad gateway. Does anyone know why and how to fix it? I can't read the response..need to figure out how to fix this!! (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - November 23, 2014 Category: Respiratory Medicine Authors: Jeannie85 Tags: DNA and Mutations Source Type: forums

R297Q /30 years old
R297Q 30 years old anyone like me?? (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - November 20, 2014 Category: Respiratory Medicine Authors: zwi Tags: DNA and Mutations Source Type: forums

Help with Prescription for Kalydeco off-label
Discussion on non-clinical aspects Ivacaftor increased in vitro the chloride transport of multiple mutant CFTR forms associated with a variety of protein defects and disease severity. The increase of chloride transport by ivacaftor was most pronounced in cells expressing CFTR gating mutations when compared to other types of CFTR mutations. This group included, G551D, G178R, S549N, S549R, G551S, G970R, G1244E, S1251N, S1255P and G1349D. The fold increase in chloride transport for all 10 studied gating mutation proteins was greater than 10. Ivacaftor also potentiated chloride transport, of cells carrying CFTR mutations that ...
Source: Cystic Fibrosis DNA and Mutations Forum - November 14, 2014 Category: Respiratory Medicine Authors: ladybird Tags: DNA and Mutations Source Type: forums

Desperately looking for others with delta f508 and s1235r
Would love to talk to others with my daughters gene mutations! Please get back to me either on here or by email kjmomma82@gmail.com thanks (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - November 14, 2014 Category: Respiratory Medicine Authors: Kjmomma82 at gmail.com Tags: DNA and Mutations Source Type: forums

S945l
Three weeks after giving birth to my son I got a call saying he had failed his newborn screening for CF. We went to UVA about a month later for a sweat test. He tested in the "grey" area. After blood work I was told they were only able to find 1 mutation, Delta F508. We then went every 6 months for sweat test. This summer we decided to join a test group that Johns Hopkins was offereing. They were able to find his second mutation... S945L. Our doctor has never worked with anyone who has these 2 mutations. I would LOVE to talk with someone who has this. (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - November 10, 2014 Category: Respiratory Medicine Authors: HeatherC123 Tags: DNA and Mutations Source Type: forums

Homozygous for D508, PI but...
When I hit my early 20's, I stopped having so much trouble keeping weight on! Now at 43, I havent taken any enzymes in two decades and constantly have to watch my diet and exercise every day to keep my weight from going up too high. All tests show my pancreas is kaput. My doc thinks I've colonized special bacteria to digest for me. Has this happened to anyone else? btw, no GI pain, normal stool, etc. You would never know I had such GI difficulty as a child and teen. (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - October 31, 2014 Category: Respiratory Medicine Authors: imported_Momto2 Tags: DNA and Mutations Source Type: forums

Need someone who did full-genetic sequencing in 2005 or earlier
Hi! I am actually posting this to help someone else. He is trying to sue whomever for medical negligence and asked me to ask the group if someone did a full genetic sequencing in 2005 or before. He just needs the results with the date - the name can be blackened out/erased. This can be done totally anonymously. He needs to show that the exam was available then. He can be reached at ori_i @ walla.co.il Thanks! (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - October 19, 2014 Category: Respiratory Medicine Authors: JustaCFmom Tags: DNA and Mutations Source Type: forums

1 copy F508del mutation
So my daughter who has had some symptoms suggestive of Cf but passed the sweat test has had genetic testing done. They tested for 97 mutations and they detected 1 copy of F508del. Should I push for further genetic testing? The message the pediatrician left me made it sound as if they would not pursue it any further. Suggestions appreciated. (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - October 1, 2014 Category: Respiratory Medicine Authors: Makmomma2 Tags: DNA and Mutations Source Type: forums

F508 and I148T/possible CF symptoms?
Hi, I'm new to this forum. Does anyone have this combination? My DS (8) has these 2 mutations, which we knew about since birth when he tested positive in his newborn screening but negative in his sweat test (I carry the F508 and my husband carries I148T). We were told that he may develop atypical CF and be infertile but he has never had a follow-up appointment as the reports were buried in his pediatrician's file. Fast forward 8 years...our DS has been to many specialists (neurologists, allergists, endocronologist, psychiatrists) for issues ranging from eyes rolling in the back of his head to anger management & anxiet...
Source: Cystic Fibrosis DNA and Mutations Forum - September 29, 2014 Category: Respiratory Medicine Authors: p.tsetsilas Tags: DNA and Mutations Source Type: forums

Kalydeco With "Other" Mutations
I would strongly urge anyone with the D1152H (Class 4) mutation to try to get Kalydeco! It has done wonders for my pulmonary problems thank G-d. (Ive never had any digestive issues.) This is my seventh month on Kalydeco. To my initial astonishment, I noticed dramatic changes less than a day after starting it. Within a week my coughing stopped and the mucus disappeared. Because of my mutations, it took several weeks for me to become convinced that the improvements were really due to the Kalydeco. Kalydeco can definitely work for people with Class 4 and 3 mutations that are not on the list. (Source: Cy...
Source: Cystic Fibrosis DNA and Mutations Forum - September 29, 2014 Category: Respiratory Medicine Authors: stephen Tags: DNA and Mutations Source Type: forums