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I am sorry to hear about your child's diagnosis. The good news is that now you know what is causing the health issues in him and you can treat him.
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<br />(hugs)
No real advice... I don't know anything about that mutation...but I'm glad to see he is now going to move forward with testing for everyone....what about you? Is the doctor willing to test you as well?
I did find this much on the cf gene data base -- it doesn't tell you much, but at least it is listed... please post on the Ask Ambry post in the family section ...Steve should be able to tell you something
The above link has a link to published papers sighting that gene... looks like it is well known for an being either/both an Asian gene and/or a gene that typically causes CBAVD
No real advice... I don't know anything about that mutation...but I'm glad to see he is now going to move forward with testing for everyone....what about you? Is the doctor willing to test you as well?
I did find this much on the cf gene data base -- it doesn't tell you much, but at least it is listed... please post on the Ask Ambry post in the family section ...Steve should be able to tell you something
The above link has a link to published papers sighting that gene... looks like it is well known for an being either/both an Asian gene and/or a gene that typically causes CBAVD
No real advice... I don't know anything about that mutation...but I'm glad to see he is now going to move forward with testing for everyone....what about you? Is the doctor willing to test you as well?
I did find this much on the cf gene data base -- it doesn't tell you much, but at least it is listed... please post on the Ask Ambry post in the family section ...Steve should be able to tell you something
The above link has a link to published papers sighting that gene... looks like it is well known for an being either/both an Asian gene and/or a gene that typically causes CBAVD
No real advice... I don't know anything about that mutation...but I'm glad to see he is now going to move forward with testing for everyone....what about you? Is the doctor willing to test you as well?
I did find this much on the cf gene data base -- it doesn't tell you much, but at least it is listed... please post on the Ask Ambry post in the family section ...Steve should be able to tell you something
The above link has a link to published papers sighting that gene... looks like it is well known for an being either/both an Asian gene and/or a gene that typically causes CBAVD
No real advice... I don't know anything about that mutation...but I'm glad to see he is now going to move forward with testing for everyone....what about you? Is the doctor willing to test you as well?
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<br />I did find this much on the cf gene data base -- it doesn't tell you much, but at least it is listed... please post on the Ask Ambry post in the family section ...Steve should be able to tell you something
<br />
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.genet.sickkids.on.ca/cftr/MutationDetailPage.external?sp=1019">http://www.genet.sickkids.on.c...lPage.external?sp=1019</a>
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<br />The above link has a link to published papers sighting that gene... looks like it is well known for an being either/both an Asian gene and/or a gene that typically causes CBAVD
I don't want to make things more confusing for you but Steve from Ambry has said that
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<br />M470V is not disease causing.
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<br />It is a very common varient carried by approx 50% of the population.
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<br />Were any other mutations found from the test?
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