Mutation Gene modifier

Anns

New member
The question about age and mutation got me thinking about my sons.
 I had known that mutations alone could not give u a look into
the symptoms and progression.  But I found a genetic test that
looks to give u more info than just mutations.  It only cost
about 125 dollars, and they said usually covered by insurance.
 I called the company on the phone and they had me speak to a
genetist who was very knowledgeable and helpful.  Here is the
test if anyone is interested and then look at their website
www.ambrygen.com<br>
<table id="table5" width="100%" style=
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bordercolor="#111111" cellpadding="0" border="1" cellspacing="0">
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<td width="100%" style=
" border-bottom-width: medium; border-right-width: medium; border-top-width: medium; border-left-width: medium; background-repeat: repeat-x;"
background="../images/LightGray_BGImage.jpg">
<h2 class="h2">Ambry Modifiers: TGF-ß1</h2>
</td>
</tr>

</tbody></table>

<blockquote>
<font size="2">Variability in the presentation and progression
of cystic fibrosis (CF) is not fully explained by the nature of the
mutations in the CFTR gene, by environmental exposures, or by
differences in medical intervention and treatment compliance.
<strong>Cystic Fibrosis</strong> is a complex disease involving
multiple processes, including inflammation, immune response, tissue
repair, and ion transport. Evidence is mounting that
normally-occurring genetic variants (polymorphisms) moderating
these processes contribute to more severe disease. Ambry Genetics
is the first to introduce such clinical testing with Ambry
Modifiers: TGF-ß1, an assay to detect polymorphisms of the
transforming growth factor-ß1 gene at the promoter position -509
and codon 10 that are associated with severe pulmonary disease in
cystic fibrosis patients. Please see the links below for further
information.</font>
</blockquote>
 

Anns

New member
The question about age and mutation got me thinking about my sons.
 I had known that mutations alone could not give u a look into
the symptoms and progression.  But I found a genetic test that
looks to give u more info than just mutations.  It only cost
about 125 dollars, and they said usually covered by insurance.
 I called the company on the phone and they had me speak to a
genetist who was very knowledgeable and helpful.  Here is the
test if anyone is interested and then look at their website
www.ambrygen.com<br>
<table id="table5" width="100%" style=
" border-bottom-width: 0pt; border-right-width: 0pt; border-top-width: 0pt; border-collapse: collapse; border-left-width: 0pt;"
bordercolor="#111111" cellpadding="0" border="1" cellspacing="0">
<tr>
<td width="100%" style=
" border-bottom-width: medium; border-right-width: medium; border-top-width: medium; border-left-width: medium; background-repeat: repeat-x;"
background="../images/LightGray_BGImage.jpg">
<h2 class="h2">Ambry Modifiers: TGF-ß1</h2>
</td>
</tr>

</tbody></table>

<blockquote>
<font size="2">Variability in the presentation and progression
of cystic fibrosis (CF) is not fully explained by the nature of the
mutations in the CFTR gene, by environmental exposures, or by
differences in medical intervention and treatment compliance.
<strong>Cystic Fibrosis</strong> is a complex disease involving
multiple processes, including inflammation, immune response, tissue
repair, and ion transport. Evidence is mounting that
normally-occurring genetic variants (polymorphisms) moderating
these processes contribute to more severe disease. Ambry Genetics
is the first to introduce such clinical testing with Ambry
Modifiers: TGF-ß1, an assay to detect polymorphisms of the
transforming growth factor-ß1 gene at the promoter position -509
and codon 10 that are associated with severe pulmonary disease in
cystic fibrosis patients. Please see the links below for further
information.</font>
</blockquote>
 

Anns

New member
The question about age and mutation got me thinking about my sons.
 I had known that mutations alone could not give u a look into
the symptoms and progression.  But I found a genetic test that
looks to give u more info than just mutations.  It only cost
about 125 dollars, and they said usually covered by insurance.
 I called the company on the phone and they had me speak to a
genetist who was very knowledgeable and helpful.  Here is the
test if anyone is interested and then look at their website
www.ambrygen.com<br>
<table id="table5" width="100%" style=
" border-bottom-width: 0pt; border-right-width: 0pt; border-top-width: 0pt; border-collapse: collapse; border-left-width: 0pt;"
bordercolor="#111111" cellpadding="0" border="1" cellspacing="0">
<tr>
<td width="100%" style=
" border-bottom-width: medium; border-right-width: medium; border-top-width: medium; border-left-width: medium; background-repeat: repeat-x;"
background="../images/LightGray_BGImage.jpg">
<h2 class="h2">Ambry Modifiers: TGF-ß1</h2>
</td>
</tr>

</tbody></table>

<blockquote>
<font size="2">Variability in the presentation and progression
of cystic fibrosis (CF) is not fully explained by the nature of the
mutations in the CFTR gene, by environmental exposures, or by
differences in medical intervention and treatment compliance.
<strong>Cystic Fibrosis</strong> is a complex disease involving
multiple processes, including inflammation, immune response, tissue
repair, and ion transport. Evidence is mounting that
normally-occurring genetic variants (polymorphisms) moderating
these processes contribute to more severe disease. Ambry Genetics
is the first to introduce such clinical testing with Ambry
Modifiers: TGF-ß1, an assay to detect polymorphisms of the
transforming growth factor-ß1 gene at the promoter position -509
and codon 10 that are associated with severe pulmonary disease in
cystic fibrosis patients. Please see the links below for further
information.</font>
</blockquote>
 

CFHockeyMom

New member
I checked out the links. Very interesting stuff. I'm going to ask our Dr. about having the test run.

Has anyone here had it done?
 

CFHockeyMom

New member
I checked out the links. Very interesting stuff. I'm going to ask our Dr. about having the test run.

Has anyone here had it done?
 

CFHockeyMom

New member
I checked out the links. Very interesting stuff. I'm going to ask our Dr. about having the test run.

Has anyone here had it done?
 

Anns

New member
Also, I forgot to say, that when I was talking to
the Geneticist about my son's mutations she said it is
possible to have to different mutations on one gene which means if
your other gene did not have a mutation then u did not have CF.
 I wonder if this is the case w/ some other adults, they have
2 mutations, but not really CF, maybe this just causes mild
symptoms.  Just a thought. Kinda complicated but very
interesting.  
 

Anns

New member
Also, I forgot to say, that when I was talking to
the Geneticist about my son's mutations she said it is
possible to have to different mutations on one gene which means if
your other gene did not have a mutation then u did not have CF.
 I wonder if this is the case w/ some other adults, they have
2 mutations, but not really CF, maybe this just causes mild
symptoms.  Just a thought. Kinda complicated but very
interesting.  
 

Anns

New member
Also, I forgot to say, that when I was talking to
the Geneticist about my son's mutations she said it is
possible to have to different mutations on one gene which means if
your other gene did not have a mutation then u did not have CF.
 I wonder if this is the case w/ some other adults, they have
2 mutations, but not really CF, maybe this just causes mild
symptoms.  Just a thought. Kinda complicated but very
interesting.  
 
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