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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 typ...
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 an...
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 Pancri...
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