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Confusing test results

J

JPW73101

New member
We got the genetic test results back today and they told me that he has a M470V Variant. What does that mean?

Anyone else have this?

They also scheduled a repeat sweat test.

I'm even more confused now? Help!!

Kim
 
J

JPW73101

New member
We got the genetic test results back today and they told me that he has a M470V Variant. What does that mean?

Anyone else have this?

They also scheduled a repeat sweat test.

I'm even more confused now? Help!!

Kim
 
J

JPW73101

New member
We got the genetic test results back today and they told me that he has a M470V Variant. What does that mean?

Anyone else have this?

They also scheduled a repeat sweat test.

I'm even more confused now? Help!!

Kim
 
J

JPW73101

New member
We got the genetic test results back today and they told me that he has a M470V Variant. What does that mean?

Anyone else have this?

They also scheduled a repeat sweat test.

I'm even more confused now? Help!!

Kim
 
J

JPW73101

New member
We got the genetic test results back today and they told me that he has a M470V Variant. What does that mean?
<br />
<br />Anyone else have this?
<br />
<br />They also scheduled a repeat sweat test.
<br />
<br />I'm even more confused now? Help!!
<br />
<br />Kim
 
S

saveferris2009

New member
I would go to the families section and ask Steve from Ambry genetics. He's great at answering these type of questions <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
S

saveferris2009

New member
I would go to the families section and ask Steve from Ambry genetics. He's great at answering these type of questions <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
S

saveferris2009

New member
I would go to the families section and ask Steve from Ambry genetics. He's great at answering these type of questions <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
S

saveferris2009

New member
I would go to the families section and ask Steve from Ambry genetics. He's great at answering these type of questions <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
S

saveferris2009

New member
I would go to the families section and ask Steve from Ambry genetics. He's great at answering these type of questions <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
M

Mommafirst

Guest
ok, I'm not super versed in this but I'll give it a shot. I believe this is a variant that doesn't necessarily need a second mutation to produce CF symptoms. I believe its one of those situations where when combined with symptoms brings an "atypical" CF diagnosis. This doesn't have anything to do with severity or even progression, but is atypical in the way that it is diagnosed.
 
M

Mommafirst

Guest
ok, I'm not super versed in this but I'll give it a shot. I believe this is a variant that doesn't necessarily need a second mutation to produce CF symptoms. I believe its one of those situations where when combined with symptoms brings an "atypical" CF diagnosis. This doesn't have anything to do with severity or even progression, but is atypical in the way that it is diagnosed.
 
M

Mommafirst

Guest
ok, I'm not super versed in this but I'll give it a shot. I believe this is a variant that doesn't necessarily need a second mutation to produce CF symptoms. I believe its one of those situations where when combined with symptoms brings an "atypical" CF diagnosis. This doesn't have anything to do with severity or even progression, but is atypical in the way that it is diagnosed.
 
M

Mommafirst

Guest
ok, I'm not super versed in this but I'll give it a shot. I believe this is a variant that doesn't necessarily need a second mutation to produce CF symptoms. I believe its one of those situations where when combined with symptoms brings an "atypical" CF diagnosis. This doesn't have anything to do with severity or even progression, but is atypical in the way that it is diagnosed.
 
M

Mommafirst

Guest
ok, I'm not super versed in this but I'll give it a shot. I believe this is a variant that doesn't necessarily need a second mutation to produce CF symptoms. I believe its one of those situations where when combined with symptoms brings an "atypical" CF diagnosis. This doesn't have anything to do with severity or even progression, but is atypical in the way that it is diagnosed.
 
M

Mommafirst

Guest
Here's some articles that might help...

<a target=_blank class=ftalternatingbarlinklarge href="http://www3.interscience.wiley.com/journal/77502172/abstract?CRETRY=1&SRETRY=0
">http://www3.interscience.wiley...act?CRETRY=1&SRETRY=0
</a>

<a target=_blank class=ftalternatingbarlinklarge href="http://www.pubmedcentral.nih.gov/picrender.fcgi?artid=1308781&blobtype=pdf
">http://www.pubmedcentral.nih.g...=1308781&blobtype=pdf
</a>

<a target=_blank class=ftalternatingbarlinklarge href="http://www.jci.org/articles/view/639/version/1">http://www.jci.org/articles/view/639/version/1</a>
 
M

Mommafirst

Guest
Here's some articles that might help...

<a target=_blank class=ftalternatingbarlinklarge href="http://www3.interscience.wiley.com/journal/77502172/abstract?CRETRY=1&SRETRY=0
">http://www3.interscience.wiley...act?CRETRY=1&SRETRY=0
</a>

<a target=_blank class=ftalternatingbarlinklarge href="http://www.pubmedcentral.nih.gov/picrender.fcgi?artid=1308781&blobtype=pdf
">http://www.pubmedcentral.nih.g...=1308781&blobtype=pdf
</a>

<a target=_blank class=ftalternatingbarlinklarge href="http://www.jci.org/articles/view/639/version/1">http://www.jci.org/articles/view/639/version/1</a>
 
M

Mommafirst

Guest
Here's some articles that might help...

<a target=_blank class=ftalternatingbarlinklarge href="http://www3.interscience.wiley.com/journal/77502172/abstract?CRETRY=1&SRETRY=0
">http://www3.interscience.wiley...act?CRETRY=1&SRETRY=0
</a>

<a target=_blank class=ftalternatingbarlinklarge href="http://www.pubmedcentral.nih.gov/picrender.fcgi?artid=1308781&blobtype=pdf
">http://www.pubmedcentral.nih.g...=1308781&blobtype=pdf
</a>

<a target=_blank class=ftalternatingbarlinklarge href="http://www.jci.org/articles/view/639/version/1">http://www.jci.org/articles/view/639/version/1</a>
 
M

Mommafirst

Guest
Here's some articles that might help...

<a target=_blank class=ftalternatingbarlinklarge href="http://www3.interscience.wiley.com/journal/77502172/abstract?CRETRY=1&SRETRY=0
">http://www3.interscience.wiley...act?CRETRY=1&SRETRY=0
</a>

<a target=_blank class=ftalternatingbarlinklarge href="http://www.pubmedcentral.nih.gov/picrender.fcgi?artid=1308781&blobtype=pdf
">http://www.pubmedcentral.nih.g...=1308781&blobtype=pdf
</a>

<a target=_blank class=ftalternatingbarlinklarge href="http://www.jci.org/articles/view/639/version/1">http://www.jci.org/articles/view/639/version/1</a>
 
M

Mommafirst

Guest
Here's some articles that might help...
<br />
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www3.interscience.wiley.com/journal/77502172/abstract?CRETRY=1&SRETRY=0
">http://www3.interscience.wiley...act?CRETRY=1&SRETRY=0
</a><br />
<br />
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.pubmedcentral.nih.gov/picrender.fcgi?artid=1308781&blobtype=pdf
">http://www.pubmedcentral.nih.g...=1308781&blobtype=pdf
</a><br />
<br />
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.jci.org/articles/view/639/version/1">http://www.jci.org/articles/view/639/version/1</a>
 
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