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Thread: Welcome Ambry Genetics

  1. #11

    Genetics testing

    Our insurance won't pay for Ambry's test. Just wondering approx how expensive it is in case we can come up with the $$ ourselves. Thanks.

  2. #12

    Genetics testing

    I have seen quite a lot of cases that were negative on Genzyme or some other panel and we have found two mutations. So it happens a lot, of course we also have patients that are negative on some other test and negative on our test as well.

    Regarding insurance and cost, I would recommend that anyone who has questions or issues should contact our office directly so we can see how best to help. If someone truly does not have coverage for testing with us, we can usually work something out on a case by case basis.

    You can call our toll free number and ask for Tracey. 866-262-7943.


  3. #13

    Steven (Ambry)

    Just curious how Ambry's testing is different from the testing Quest does. From what I understand, it used to be that if you had a very rare mutation (considered unknown by the old Ambry test) that Quest was the only way to find the that what the new Ambry test does?


  4. #14

    Steven (Ambry)

    Actually you have it the other way around. Ambry's been around for quite a while. Until recently, Quest only had a limited panel. As far as the difference between the tests, they do test differently so I guess, theoretically, it's possible for someone to get missed on one but not the other (just guessing on that.) I'll leave that up to the pro I really like that Ambry has a rep reading and posting

  5. #15

    Steven (Ambry)

    Thanks, The test that we have been doing at Ambry is basically the same test for the last few years. That is a comprehensive sequence analysis that can pick up over 1400 (this number keeps getting bigger as we find more mutations) mutations. A total of 97% detection of all mutations.

    The new Ambry test that you are referring to probably related to the addition of our deletion/duplication test. This test detects large deletions or duplications in the gene that cannot be detected by any sequence type test. These mutations account for about 2% of all CF mutations. Therefore when you combine the two you have 99% detection and the name for this test is The Ambry Test: CF Amplified. That is our "new" most comprehensive test.

    As far as missing mutations, there is no test that is 100% accurate so any lab could potentially miss a mutation. However taking away errors, any mutation should be detected the same on both The Ambry test or any other lab sequencing test. However if a lab is just looking for a panel of mutations, then yes they would miss all other mutations.

    I hope that clears it up, and I am glad that you appreciate my presence. My main goal is that people get accurate information to be able to make informed decisions to do what is best for themselves and their family.


  6. #16

    Steven (Ambry)

    Thanks for this info! My son had genetic testing done almost a year ago to see what his other mutation is (one is Delta F508). I never thought to ask what type of test it was, but it didn't pick up the mutation. I'm trying to get my son's new dr. to get this type of test done, and I like to be armed with the correct info.

  7. #17

    Genetics testing

    Our clinic appointment went very well and the docs brought up doing
    the Ambry test before I even got to mentioned it. So I
    didn't have to do any arm twisting at all. And they said the
    same thing Steve from Ambry said in that it only takes from 2-4
    weeks to get the results back. Yeah!


  8. #18

    Welcome Ambry Genetics

    My son tested postivie for the delta f508. This was right after his diagnosis. We were told the other one was unknown. Should we push the doctors to find out what the other gene is or does it really matter. Please let me know.

  9. #19

    Steven (Ambry)

    sorry to butt in , but is it possible to use Ambry testing evan if you are in England?????



  10. #20

    Steven (Ambry)

    Kandi, seems we're in the same boat! (One Delta F508, one unknown) I am pushing for the Ambry:CF Amplified. Mainly because there may be some correlation between class of mutation and severity of disease. I've also read that when there are two different mutations, the Cf is usually as severe as the milder class mutation. Plus, I'm just really curious. We'd also like to know because then other relatives on my hubby's side could find out if they were carriers much easier, they'd know what mutation to look for. Helpful when they want to have kids themselves. If you can get insurance to cover it, why not?

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