Cystic Fibrosis Forum (EXP)

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  1. E

    DF508 and 3659delC anyone??

    Thanks so much for your responses! Adrienne-- So close! The nature of CF, the different mutations and the variance in severity of symptoms makes it so hard to tell.. Just wanted to say I'm so happy to hear that you are doing so well! I understand the realities of this disease and so I love...
  2. E

    DF508 and 3659delC anyone??

    Hi all! I am not sure of the 'board etiquette' here and I am sorry if this post is intrusive to your board but I am just wondering if anyone has this particular combination of CF gene mutations? DF508 and 3659delC? My nearly 6 month old baby girl has this combination and I am just wondering if...
  3. E

    DF508 and 3659delC anyone??

    Hi all! I am not sure of the 'board etiquette' here and I am sorry if this post is intrusive to your board but I am just wondering if anyone has this particular combination of CF gene mutations? DF508 and 3659delC? My nearly 6 month old baby girl has this combination and I am just wondering if...
  4. E

    DF508 and 3659delC anyone??

    Hi all! I am not sure of the 'board etiquette' here and I am sorry if this post is intrusive to your board but I am just wondering if anyone has this particular combination of CF gene mutations? DF508 and 3659delC? My nearly 6 month old baby girl has this combination and I am just wondering if...
  5. E

    Welcome Ambry Genetics

    Hi Steve, I am finally back after our meeting with a geneticist. My baby girl has one DeltaF508 mutation and the other is 3659delC (I had previously been told it was called Thr1176fs). I was told that they have *new names* for the mutations now that the labs use but that she herself (the...
  6. E

    Welcome Ambry Genetics

    <begin quote><i>Originally posted by: <b>StevenKeiles</b></i> Elle, That is not the standard way to document a mutation, so I am not really sure what they mean. Thr1176 means codon 1176 which codes for threonine, so that would be noted as T1176 and then followed by the letter of the new...
  7. E

    Another first-timer here

    Hi! I have a 4 month old baby girl, Sienna (our first child) who was diagnosed with CF at 5 weeks, picked up by newborn screening. Neither my partner nor myself knew we were carriers-- we were shocked to learn that her sweat test was positive (we had convinced ourselves that it was going to be...
  8. E

    Another first-timer here

    Hi! I have a 4 month old baby girl, Sienna (our first child) who was diagnosed with CF at 5 weeks, picked up by newborn screening. Neither my partner nor myself knew we were carriers-- we were shocked to learn that her sweat test was positive (we had convinced ourselves that it was going to be...
  9. E

    Another first-timer here

    Hi! I have a 4 month old baby girl, Sienna (our first child) who was diagnosed with CF at 5 weeks, picked up by newborn screening. Neither my partner nor myself knew we were carriers-- we were shocked to learn that her sweat test was positive (we had convinced ourselves that it was going to be...
  10. E

    Welcome Ambry Genetics

    <begin quote><i>Originally posted by: <b>StevenKeiles</b></i> Elle, I need to know more about the exact name of the mutation. The way you have it written in not correct. If you have a copy of the results that would be more helpful. Feel free to fax me the report and I can take a look at...
  11. E

    Welcome Ambry Genetics

    Hi Steve, My 4 month old baby girl was diagnosed with CF at 5 weeks. Her newborn screening found one DeltaF508 mutation and a sweat test was subsequently performed which came back positive. My partner and I have had the genetic testing, showing that he is a carrier of the DF508 mutation and I...
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