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Thread: Welcome Ambry Genetics

  1. #21

    Steven (Ambry)

    My daughter has one discovered mutation L997F. Anyone with info re: this?? The second mutation cannot be found.
    Thanks, Joan

  2. #22

    Steven (Ambry)

    Hello again everyone,

    A couple of responses to recently asked questions,

    Yes you can use Ambry from anywhere in the world. We have received samples from many countries and have regular clients in Argentina, Brazil, Chile, Japan, Iceland, India, Czech Republic and many other countries.

    Yes there are some mutations that milder and some that more severe, but remember there is variability with all mutations and two people, even siblings with the same mutations will not necessarily have the same disease.

    As a general rule if you have one or two milder mutations you will have milder disease, but there is variabilty even within the same mutations.


  3. #23

    Steven (Ambry)

    Hi Steve-You emailed me a link for some info on one of my son's mutations. He has G551D and 2585delT. You stated in your previous posting that if a person has 2 milder mutations there disease may be a milder form (not necessarily always the case-but most of the time). How do I figure out what is a milder gene mutation and which one is a more severe mutation? An example being-my son's mutations vs the DeltaF508?

    Thanks a bunch for your help!!!!!!

    1 son, Caleb, 14 mos w/CF

  4. #24

    Steven (Ambry)

    Is L997F a milder mutation??? My daughter definitely has a mild case, not diagnosed until 10 years old, never been hospitalized, etc. 2 mutation unknown???
    thanks, Joan

  5. #25

    Welcome Ambry Genetics

    False Positives?

    We have an infant that was diagnosed prenatally with CF through the
    other genetic testing group for CF. In your experience, what is the
    chance that the amnio test could have given us a false positive? We
    were thinking of having her retested, but we were reassured by our
    clinic that the odds of a false positive on a prenatal screening
    through amnio were infanently (sp) smaller than getting a false
    negative through the same screening. We have some family pressuring
    us to get her retested. We are fine with what her Dr. thinks.
    Ultimately, we are just curious. I know there has tobe a big
    difference between the two testing companies, but I hope you can
    shed some light on the odds in general. Especially since I can't
    get anyone on the phone or through email with the other company to
    ask this question.

    Thanks in advance for your time!

  6. #26

    Welcome Ambry Genetics

    Regarding mild or severe mutations, I think a better way to say it is a more typical CF mutation and a milder CF mutation. Remember there is a wide range of symptoms that can occur with all mutations.

    G551D is a more typical CF mutation
    2585delT is rare, but I would predict it to be more typical, based on the type of mutation that it is, because it involves a small deletion.

    L997F is often seen with a milder presentation and often with GI problems such as pancreatitis.

    Regarding false positives, I already replied on the other thread, but to quickly summarize...

    When two mutations are known the testing is very accurate, regardless of which lab does the testing. I do not think retesting is necessary, but if that is what you need for peace of mind, testing can be done for just the two known mutations. In fact we can do that for $300.

    I hope that helps.


  7. #27

    Husband needs to be tested

    Hi Steven
    I have a few questions for you.
    My husband has Kaiser Insurance and needs to have a gentic test done to see if he is a carrier of CF. Can you tell me whether Kaiser will pay for the test or not? And if they dont cover it can you tell me how much it will be.

    I have CF and we want to have our own child. When he is tested and say he is tested neg for CF what are the chances that he still has a cf gene thats not detected?
    Should we make sure to test for the genes that I have which are both Delta F508? How should we aproach the testing to get a more acurate test results?

    I am assuming that his Dr knows how to go about doing this but I want to here it from you, about what we should be looking for so we are better prepared. Thanks for your help!

  8. #28

    Husband needs to be tested

    If the dr orders the test it will be covered, that is one of the advantages of Kaiser. The Drs have the final say not the claims people.

  9. #29

    Husband needs to be tested

    Wow that great news Chris Thanks! Do you have Kaiser?

  10. #30

    Husband needs to be tested


    Yes as Chris said, Kaiser will do the test and it is covered. In fact Kaiser has their own CF test that includes the deltaF508 mutations. If he is negative the chance that he is a carrier of another mutation is about 1 in 200.

    We actually receive a lot of samples from Kaiser as well. It is possible for them to send us a sample for further testing if his test is negative at Kaiser. Since you carry two deltaF508 mutations, I don't think there would be a problem requesting more comprehensive testing if his test at Kaiser is negative.

    Which Kaiser do you go to, I can refer you to someone who can make this easier for you? I worked at Kaiser for 16 years before coming to Ambry, so I am pretty familiar with the system and the people there.

    Let me know if there are any other questions,


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