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Thread: Welcome Ambry Genetics

  1. #1

    Genetics testing

    My son has had three sweat tests (five if you count the ones when
    he didn't sweat enough) and all three have come back positive - 69,
    94, 76. At that point we were told he had CF (by his Gastro
    doc). Now we just got the results of his initial genetics
    test back and he doesn't have any of the 97 most common mutations.
    I was sort of expecting him to have at least one of those
    more common mutations if not both. My questions is how many
    of you have two uncommon mutations vs one common and one uncommon
    or both common? I know they are going to want to do the more
    extensive genetics testing when we go to our appointment on
    Tuesday, but it is sort of driving me nuts that we're going to have
    to wait months now for this other test result. BTW he has had
    a chest xray, sinus CT, elastace test and throat swab when we saw
    the clinic last month and all those came out fine.

    Another question that I'm not sure any of you are going to have
    experience with is that my son has cerebral palsy (born 10 weeks
    premature) and the doctor at the clinic said that for some reason
    unknown to them a child with multiple health issues can test false
    positive on the sweat test. Anyone heard of this? I did
    look up the reasons why someone can get a positive sweat test and
    not have CF, but none of those apply to him. I keep seeing
    that two positive sweats mean CF period end of story. Any
    insight would be appreciated.

  2. #2

    Genetics testing

    My son has one common (Delta F508) actually most common,
    and one uncommon but still unknown (we need further genetic testing)

  3. #3

    Genetics testing

    i've heard of several people who have two rare mutations.

    i would push for genetic testing for less common mutations.

  4. #4

    Genetics testing

    My daughter has two rare genes. One is tested in the main
    panel (W1282X) but still only accounts for less than 1% (differs in
    different countries) of CF patients. Here other gene is soooo
    very rare that we can only find one case study of a patient with
    the gene.

    Although it is rare to have two uncommon genes, its certainly not
    unheard of. I hope you get some answers. I know the
    whole testing is mind numbing and long and drawn out! The good news
    is he is showing to be pancreatic sufficient and no culturing
    anything or having respiratory problems. This means that is he does
    have CF that all the great preventative treatments will be able to
    be started early!!

  5. #5

    Genetics testing

    Both of Hailey's are not in the top 100. They both occur in less than 1% of patients.

  6. #6

    Genetics testing

    My kids mutations are pretty common, but they do have two of them and they do have A-typical, mild variant CF -- (read my blog for more details)

    Now, if a doctor was to look at:
    sweat tests
    chest x-ray
    sinus CT
    elastase test
    throat swab

    They would all look normal in my kids too. (yes, all of these have been done)

    But, yes, I'd have to say it's not a guarantee that you son has CF, but they tested for 97 genes, and there are 1400, so chances are with the positive sweat test and that many unchecked genes and mild symptoms (I'm assuming the GI doc suspected CF for some sort of reason) it is not outside the realm of possibility that he does in fact have CF.

    Having said that -- there was another post not long ago, that someone posted some really good information about when a person can get a false positive on a sweat test -- you might try searching the archives here.

    Best wishes -- keep us posted on what happens.

  7. #7

    Genetics testing


    Just to let you know, those are not the 97 most common mutations, they are just 97 mutations that happen to be on that panel. There is only one common mutation and all the rest are rare. There are a few mutations that occur more frequently but 99% of all mutation occur with a frequency of less than .1%.

    Yes that is correct <.1%

    So your situation is actually not that unusual.


  8. #8

    Genetics testing

    Thanks everyone for all the information. We have another
    appointment at the clinic tomorrow so I will insist on the more
    complete genetic testing.

    Steve, thanks for the information on that genetics panel.
    Very interesting. How long does it really take to
    get the results of the Ambry test back? I know they have to
    look at a huge amount of info and that's why it takes so long, but
    is it really months?

  9. #9

    Genetics testing

    Our test has never taken months to get results. The typical turnaround time is 2-4 weeks with most samples averaging on the shorter end of that time.

    Good luck at the clinic tomorrow.


  10. #10

    Genetics testing

    Steve, I was just wondering if it's a very common occurrence that people test completely negative on Genzyme's panel but then find two genes on your panel?? We're another family in limbo...

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