Son being tested for cf...
Thank you all for your support. Isaac is so brave. What a good boy he was. Sweat testing and genetic testing on a little one is a lot for one day.
I'll let you all know the results when I get them.
Domsmom, how important is it to know about deletion/duplication testing? Would having one copy of one of these along with a classic cf mutation mean cf diagnosis and/or cf symptoms? Clearly you don't mean they don't test for deletion mutations since the common DF508 along with others are this type. This is what Steve at Ambry had to say about my test...
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>StevenKeiles</b></i>
Lauren,
Genzyme does do CFTR sequencing now, but as they stated they have not been doing it that long. I am not sure how long it takes to get results and I do know that they do not have the experience or the database of mutations that we have. We are often able to answer questions about rare mutations because we have seen them many times whereas other labs keep finding something they have not seen before.
If the test is negative, it would be just as helpful though.
Good luck,
Steve</end quote></div>
Thank you all for your support. Isaac is so brave. What a good boy he was. Sweat testing and genetic testing on a little one is a lot for one day.
I'll let you all know the results when I get them.
Domsmom, how important is it to know about deletion/duplication testing? Would having one copy of one of these along with a classic cf mutation mean cf diagnosis and/or cf symptoms? Clearly you don't mean they don't test for deletion mutations since the common DF508 along with others are this type. This is what Steve at Ambry had to say about my test...
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>StevenKeiles</b></i>
Lauren,
Genzyme does do CFTR sequencing now, but as they stated they have not been doing it that long. I am not sure how long it takes to get results and I do know that they do not have the experience or the database of mutations that we have. We are often able to answer questions about rare mutations because we have seen them many times whereas other labs keep finding something they have not seen before.
If the test is negative, it would be just as helpful though.
Good luck,
Steve</end quote></div>