Which is the best Ambry Genzyme quest or someone else?
Just got back results from Ambry . Had cftr full gene and cftr del/duo done on my husband. Came back in11 days with nothing found not even the M47OV which my daughter has and I don't . I am not happy with this Ambry testing since we have hers and mine and we're trying to find what she hot from him (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - December 3, 2015 Category: Respiratory Medicine Authors: aqua8522 Tags: DNA and Mutations Source Type: forums

gene c.3140-26a
I just found out the other mutated gene that my 2 month old son has. He has the deltaF508 and gene c.3140-26a. I think this gene falls into the Class V cartegory but I am not positive. I am wondering if anyone else has experienced this combination or can help shed some light on what Class V is. (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - October 30, 2015 Category: Respiratory Medicine Authors: iwuvwoo Tags: DNA and Mutations Source Type: forums

CFTR nonsense w-1204, nonsense w-1143
Chr7: 117,267,718 G>A Pathogenic Zygosity: Homozygous dbSNP ID: rs121908764 Population Allele Frequency: 0.00% Gene Impact: CFTR NONSENSE W-1204-* NONSENSE W-1143-* Gene Impact: AC000111.6 INTRON Hello all, I'm a 42 year old male and I had all kinds of problems with my lungs all my life (Pneumonia half a dozen times, Bronchitis more times than I can count, and asthma. A few months ago I ordered an Asthma Peak Flow Meter and my air flow is much worse than it should be even when I do not have any asthma symptoms. For the past several weeks I have had Bronchitis. I didn't bother going to the doctor because this type ...
Source: Cystic Fibrosis DNA and Mutations Forum - October 28, 2015 Category: Respiratory Medicine Authors: oaktree Tags: DNA and Mutations Source Type: forums

R117h + ivs8-5t/78/9t/7t
We got a phone call from the hospital where my two week old daughter was born...they said that he CF test came back positive with this info R117H + IVS8-5T/78/9T/7T... Can someone please help me figure out what this means? They were no help over the phone. My wife is a carrier of CF, but not sick at all...we told the baby's pediatrician about this and she said not to worry about a sweat test yet, but now the hospital wants us to have one! Any help would be great! (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - September 16, 2015 Category: Respiratory Medicine Authors: adamgreenberger Tags: DNA and Mutations Source Type: forums

Looking for a little more information.
If I test positive for one copy of the R117H-7T mutation and 7T. Does this mean I have Cystic Fibrosis? I was told I am a carrier of the gene. I will not get into see a doctor for another week to discuss results. I am concerned and hoping for more information, if possible. Thank you! (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - September 5, 2015 Category: Respiratory Medicine Authors: MattieG Tags: DNA and Mutations Source Type: forums

Delta F508 + D797A
We have a recently diagnosed newborn with this rare combination. We have been fortunate enough to speak with several physicians both at Stanford and UCSF, we find ourself facing the great unknown. Our daughter is 6 weeks old, had a positive newborn screening which resulted in the genetic sequencing. Her sweat test came back at 40, clear chest X-ray. normal labs and completely asymptomatic to this point. She is growing normally and had we not had the call from the doctors office, we wouldn't think anything was wrong. I work in a unrelated field of medicine so I was able to get good access to the information available and ...
Source: Cystic Fibrosis DNA and Mutations Forum - August 29, 2015 Category: Respiratory Medicine Authors: sfzobie Tags: DNA and Mutations Source Type: forums

Gene f508 and r117h ~7t
Im hoping someone can help me understand all this, my sons mutations were found at his new born screening he had a sweat test as a newborn and everything was in normal range they repeated the sweat test at age 6 months his chloride levels went up a bit so we went for another test at age 1 then his chloride levels were up even more and he was diagnosed with cf he is now almost 4 and has had no real issues with cf he has check ups every 3 months but nothing has ever really changed i have two other kids and he doesn't seem to really get any sicker then them. Im frustrated because he is on a vest twice daily with albuterol in ...
Source: Cystic Fibrosis DNA and Mutations Forum - July 14, 2015 Category: Respiratory Medicine Authors: Tiffany Kruit Tags: DNA and Mutations Source Type: forums

G1244E and DF508
I was wondering if there was anyone else out there with these mutations. (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - June 27, 2015 Category: Respiratory Medicine Authors: LisaMB_2013 Tags: DNA and Mutations Source Type: forums

Fibrosis vest for sale
Vest has less than 60 hrs great condition 903-805-5164 (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - June 19, 2015 Category: Respiratory Medicine Authors: Renee Peters Chase Tags: DNA and Mutations Source Type: forums

anyone have DeltaF508and p.Leu467pro
Hello just found out my mutations Hoping someone else has these or any information about them. exact sequence is c.1521-1523delCTT and p.Leu467Pro i was told the second one is a rare type i am 36 years old from melbourne australia lung function 85%_89% have only started to feel the impact of Cf the past few years i have had three hospital admissions since 2012 my wife and i are considering IVF so i would love to chat with anyone who has undergone IVF or may ave information on the above mutation thanks in advance Jake (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - June 16, 2015 Category: Respiratory Medicine Authors: stock12 Tags: DNA and Mutations Source Type: forums

P.arg75.gln
Hi, i was wondering if anyone had this mutation? I've had chronic pancreatitis and breathing problems the last 3 years. I was being treated last year at a Certfied CF Clinic. They were looking into CFRD but I only have the one mutation and then switched insurances. Thank you. (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - June 15, 2015 Category: Respiratory Medicine Authors: NCkat Tags: DNA and Mutations Source Type: forums

DeltaF508 and c1521_1523 Deletion CTT. Please help!!!
My daughter has been diagnosed with these mutations but looks like second one is rare. Does anyone have any info at all??? Thanks for the help. (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - June 14, 2015 Category: Respiratory Medicine Authors: Dfreitas999 Tags: DNA and Mutations Source Type: forums

D579g
Someone have this cftr mutation? (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - June 7, 2015 Category: Respiratory Medicine Authors: carmartini Tags: DNA and Mutations Source Type: forums

Hi All. Throwing this out there to see if anyone can help. Still no CF diagnoise.
Hi Everyone. Well, I had a ambry Pancreatitis Genetic panel done. Any one else, with pancritis problems, Cf etc, which know of theses mutations. G576A, (likely pathogenic) And R668C. (Variant of unknown Significance) Got as far as a CRMS Diagnose. Told neither of these are CF causing. I don't get this as I am still in limbo, The two high sweat test> 84, and 90. To make this short as I always write a book here, I do have good FVC. Low DLCO. (which I think is heart related) Chronic Asthma, Chronic Sinusitis, Allergies, Chronic Bronchitis, Failure to thrive, malnusorption disorder (most all my life) Chronic Pancritis, Oste...
Source: Cystic Fibrosis DNA and Mutations Forum - May 30, 2015 Category: Respiratory Medicine Authors: madmax33 Tags: DNA and Mutations Source Type: forums

DeltaF508 c.1584G>A
My husband and I are in the process of doing IVF with icsi due to we both carry the Delta F508 and he carries another copy 1584 G>A. We have 2 frozen embryos frozen that have my delta F508 and my husbands 1584G>A. I cannot find much research with this combination. Our doctor said he would not implant due to the fact it could result in symptoms in a child. Even though it has not show symptoms in my husband. We are heartbroken! Does anyone out there know or have any research with this gene combination? (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - May 29, 2015 Category: Respiratory Medicine Authors: kfortugno Tags: DNA and Mutations Source Type: forums

2183aa > G or S945L
Hi Folks! I'm trying to pull some data but Google isn't being incredibly helpful.... there really isn't a place to pull this kind of data.. I'd like to know what symptoms are related to which genes... and so I think this may work out well. I think there are at least a few people on these forums with these genes. This is what I'd like to know: Which genes do you have? (please only reply if you have either 2183aa->G or S945L, thank you!) What are your major CF-related symptoms (lungs,sinuses,pancreas,other)? What medications work best for you to manage health? (pulmozyme, etc) Whats your PFT%? (Just the last result is...
Source: Cystic Fibrosis DNA and Mutations Forum - May 19, 2015 Category: Respiratory Medicine Authors: Dank Tags: DNA and Mutations Source Type: forums

I am not going to sit back anymore.
Ok. My only child, my daughter Suzie, is 25 years old. She was diagnosed at 11 years old. We just learned of her mutation about a year ago. We always knew one was the Delta 508. They have finally found the other but they said no one else has it. And it does not have an easy name. I will write it as it says on her chart: 869+1 869+4 delGTAA insACATTATT I had asked all of you previously but no one really knew. I am hoping now that somebody will recognize this or maybe give me some tips? I believe that Kalydeco would change her life, and her attitude about life! She is doing her last 3 days of Cayston and is coughing so h...
Source: Cystic Fibrosis DNA and Mutations Forum - May 15, 2015 Category: Respiratory Medicine Authors: suziesmom Tags: DNA and Mutations Source Type: forums

referral for CFTR
Afternoon all, had a bit of a bombshell today, after a persistant cough for 18 months which is productive I've been sent for CFTR test. Is this normal in a 27yo female? Chronic autoimmune issues for 25 years plus so not new to Drs. Can an anyone offer words of wisdom or similar?! (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - May 8, 2015 Category: Respiratory Medicine Authors: Aimee Ford-Young Tags: DNA and Mutations Source Type: forums

g1069r
I have spent countless hours trying to find anyone with the mutation g1069r. I'm really not expecting that anyone will respond because it just seems to be incredibly rare but figured I'd post anyways just in case. I've found some mention of the mutation in a few studies and listed on some patent requests - but I'm just curious if anyone out there has any experience with this mutation. My 9 month old has one copy of df508 and one g1069r which is currently categorized as a mutation of varying consequence in the CFTR database. He has a CRMS dx currently - but I'd love to find out more! (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - April 7, 2015 Category: Respiratory Medicine Authors: emason Tags: DNA and Mutations Source Type: forums

Question on residual function
Can someone tell me how to find out which mutations are considered residual function? I saw where vertex is doing a new study on one df508 and one with a residual function. My kids have a class I mutation and a df508. Thanks. (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - April 1, 2015 Category: Respiratory Medicine Authors: Nikole Tags: DNA and Mutations Source Type: forums

positive sweat test but no cf ???
My daughter was diagnosed with cf for 15 years. They then found her variance to be 7542 and now no c.f.. does anyone else have this? (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - March 25, 2015 Category: Respiratory Medicine Authors: Salbal Tags: DNA and Mutations Source Type: forums

More than 2 mutations?
Hi, I am new here. Anyone else who has more than 2 mutations? Seems like our daughter has. She was recently diagnosed after sweat and genetictest. At first the doctors gave us 2 mutations but now they found a third one. Just curios if someone else has it. //drea (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - March 22, 2015 Category: Respiratory Medicine Authors: Drea75 Tags: DNA and Mutations Source Type: forums

Delta 508 & C2657+2_2657+3INSA
Hi there Our gorgeous little e girl was diagnosed with CF at 3 weeks old. She is now 3 months old and doing great. We have just got the results back in relation to her gene mutation. One of then is d508 and the other is C2657+2_2657+3INSA which I have been advised is a very rare gene type. We are based in Ireland and our consultant knows very little about this particular gene combination. One thing that he has indicated is that our daughter is likely to to be pancreas sufficient and that she may have a milder form of cf. As you can appreciate we are trying to get out heads around this and believe that this is very good ne...
Source: Cystic Fibrosis DNA and Mutations Forum - March 6, 2015 Category: Respiratory Medicine Authors: G-STAR Tags: DNA and Mutations Source Type: forums

Even More Promising News!
Even more promising news from CF Roundtable: http://www.cfroundtable.com/2015/02/...s-medications/ (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - February 13, 2015 Category: Respiratory Medicine Authors: stephen Tags: DNA and Mutations Source Type: forums

More Promising News
From CF Roundtable: Trials for CF Patients Homozygous DeltaF508 Now Enrolling! http://www.cfroundtable.com/2015/02/...armaceuticals/ (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - February 9, 2015 Category: Respiratory Medicine Authors: stephen Tags: DNA and Mutations Source Type: forums

How to find out classifications for Mutation D36N.
Can someone please help me understand how to find out classification for a particular mutation. Some one I know has D36N which looks like a rare mis sense mutation. But want to know what class this belongs to and if Kalydeco off label works for this. Any help appreciated. (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - February 9, 2015 Category: Respiratory Medicine Authors: Mallika Tags: DNA and Mutations Source Type: forums

question on mutatuon
my daughter is in the process of multiple sweat test for a diagnosis and just had her blood work done today. I have a thread in newly diagnosed on everything that is going on with her. I guess Im mainly here to ask about gene mutation. from what I have read online about cystic fibrosis is the gene has to come from each parent. first question: if the parent has the gene but no signs/diagnosis of CF is their gene mutated also? second question: with CF if my daughter comes back with a mutated gene, that means she got the gene from us her parents so does that mean we got the gene from our parents?? my daughters uncle is go...
Source: Cystic Fibrosis DNA and Mutations Forum - February 7, 2015 Category: Respiratory Medicine Authors: jabug8 Tags: DNA and Mutations Source Type: forums

Mutation Database
Afternoon - I was wondering if anyone knew of an updated mutation database? The CFTR 2 website hasn't been updated since April 2012...that's almost 3 years ago! I posted this question on a facebook group, but thought I would try here. My daughter has a rare mutation w/ varying consequences and only 4 people in that database with her exact pair. There should be more updated information over a 3 year time period, especially with the newborn screening process. Hoping to find it. I'm just...desperate for more information I guess. Thanks, in advanced (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - January 26, 2015 Category: Respiratory Medicine Authors: lauryn.tubes Tags: DNA and Mutations Source Type: forums

Test For The "Normal' CFTR Gene?
For quite a while I had been wondering why genetic testing for CF did not involve looking for the known “normal” CFTR gene instead of looking for one of the many known mutations. This seems like it should be much simpler. It should also have the benefit of not missing a diagnosis because a patient’s mutation(s) had not been identified yet. I was going to pose the question here, thinking someone like LittleLab4CF might have the answer. Instead I asked the Cystic Fibrosis Foundation and this was their reply: Hi ---, Thank you for your message and for including some information about yourself. We apologize for the ...
Source: Cystic Fibrosis DNA and Mutations Forum - January 18, 2015 Category: Respiratory Medicine Authors: stephen Tags: DNA and Mutations Source Type: forums

1471delA and DeltaF508
Anyone with 1471delA mutations ? (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - January 11, 2015 Category: Respiratory Medicine Authors: Kinga J Mears Tags: DNA and Mutations Source Type: forums

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, gallb...
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 was h...
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. (I’ve 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: Cystic Fib...
Source: Cystic Fibrosis DNA and Mutations Forum - September 29, 2014 Category: Respiratory Medicine Authors: stephen Tags: DNA and Mutations Source Type: forums

F508 and M265R
Looking for any others with M265R gene mutation it is not in the database. I am 33 and just diagnosed this year as atypical CF I have had a lot of problems with my pancreas. I don't have a clue what may develop later in life I do have extra mucus and some problems with sinuses and bronchitis in my life. (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - September 22, 2014 Category: Respiratory Medicine Authors: mommof2b1 Tags: DNA and Mutations Source Type: forums

Newborn has 2 mutations-I1366T & DelF508..HELP?
So I received a call that my newborn has two mutations today-I1366T & DelF508. Her IRT was 97.99, and newborn cutoff is 67. I was told that they would refer her for the sweat test at Children's Hospital and I'll be hearing from her Dr and C.H. soon. *crickets* Soooo....in the MEANTIME, what am I supposed to think? Of course, I googled it and the information I got was "if baby tests positive for 2 mutations, baby most likely has C.F.". We have 5 children--#3 is a carrier of DelF508. Not sure about 1, 2 and 4. I never got any information after #4's birth so I assume she is not a carrier... Is it possible ...
Source: Cystic Fibrosis DNA and Mutations Forum - September 17, 2014 Category: Respiratory Medicine Authors: Mama2Five Tags: DNA and Mutations Source Type: forums

C.777delT & DF508
I think my son is the only one with this combination. Anyone else have c.777delT? He was diagnosed at birth with MI & sweat test of 112. He's 14 yrs old, no hospitalizations or major lung complications so far. Main issues are with digestion (since birth) & nasal polyps (onset age 12). The results of this second mutation read - c.777delT (frameshift): Not a previously reported CFTR to our knowledge but predicted to be deleterious. I'm assuming that means Class 2 but with the mildness of his disease so far it leads me to believe it's not? thoughts? (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - September 14, 2014 Category: Respiratory Medicine Authors: aprung Tags: DNA and Mutations Source Type: forums

Still looking for others with 124del23bp
Anybody else out there? Seems to be an Azorian mutation from my husband's side...also goes by the nomenclature c.-9_14del23 (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - August 18, 2014 Category: Respiratory Medicine Authors: ccsalema Tags: DNA and Mutations Source Type: forums

F508 & d110h
Hi, I am new to this site. Curious if anyone has f508 & d110h? My daughter is 15 months and was diagnosed on newborn screening. My husband and I have dealt with this for over a year, but still cannot accept it. We feel as though she has not one symptom.....which is a good thing.....but makes it hard to accept something we dont see. We were told that from what they know it should be mild. Wish we could see into the future! (Source: Cystic Fibrosis DNA and Mutations Forum)
Source: Cystic Fibrosis DNA and Mutations Forum - July 22, 2014 Category: Respiratory Medicine Authors: Jeannie85 Tags: DNA and Mutations Source Type: forums