Mayo Clinic doing full genetic study?

[JennifersHope]

For some reason, though my doctor wrote an order for full Ambry genetic testing, my blood was sent to Mayo. At first I thought it was just going there first and that it would then be sent to Ambry. Today I found out it is just staying at Mayo and that they do the same testing as Ambry.

I totally trust my CF center, I just was wondering if anyone else has had this experience?

This waiting stuff is killing me but I want to make sure we leave no stone unturned at this point...

 

[JennifersHope]

For some reason, though my doctor wrote an order for full Ambry genetic testing, my blood was sent to Mayo. At first I thought it was just going there first and that it would then be sent to Ambry. Today I found out it is just staying at Mayo and that they do the same testing as Ambry.

I totally trust my CF center, I just was wondering if anyone else has had this experience?

This waiting stuff is killing me but I want to make sure we leave no stone unturned at this point...

 

[JennifersHope]

For some reason, though my doctor wrote an order for full Ambry genetic testing, my blood was sent to Mayo. At first I thought it was just going there first and that it would then be sent to Ambry. Today I found out it is just staying at Mayo and that they do the same testing as Ambry.
<br />
<br />I totally trust my CF center, I just was wondering if anyone else has had this experience?
<br />
<br />This waiting stuff is killing me but I want to make sure we leave no stone unturned at this point...

 

[Ratatosk]

Ugh, you can check Mayo's website, but this has been discussed before and Mayo's test is only for about 70+ mutations. That's the test DS had when he was a baby, unless they changed their procedures and/or what they test for.

Correction -- according to their site they do test for more mutations -- here's a link:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/88876">http://www.mayomedicallaborato...and+Interpretive/88876</a>

Cystic Fibrosis Molecular Diagnostic Testing Algorithm

http://testcatalog.mayomedicallaboratories.com/View.aspx?object=SpecialInstructions&CID=292

Above has a link to a PDF file that describes their testing procedure...

 

[Ratatosk]

Ugh, you can check Mayo's website, but this has been discussed before and Mayo's test is only for about 70+ mutations. That's the test DS had when he was a baby, unless they changed their procedures and/or what they test for.

Correction -- according to their site they do test for more mutations -- here's a link:

<a target=_blank class=ftalternatingbarlinklarge href="http://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/88876">http://www.mayomedicallaborato...and+Interpretive/88876</a>

Cystic Fibrosis Molecular Diagnostic Testing Algorithm

http://testcatalog.mayomedicallaboratories.com/View.aspx?object=SpecialInstructions&CID=292

Above has a link to a PDF file that describes their testing procedure...

 

[Ratatosk]

Ugh, you can check Mayo's website, but this has been discussed before and Mayo's test is only for about 70+ mutations. That's the test DS had when he was a baby, unless they changed their procedures and/or what they test for.
<br />
<br />Correction -- according to their site they do test for more mutations -- here's a link:
<br />
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/88876">http://www.mayomedicallaborato...and+Interpretive/88876</a>
<br />
<br />Cystic Fibrosis Molecular Diagnostic Testing Algorithm
<br />
<br />http://testcatalog.mayomedicallaboratories.com/View.aspx?object=SpecialInstructions&CID=292
<br />
<br />Above has a link to a PDF file that describes their testing procedure...

 

[alluneedislove]

Im sure Mayo does a FULL Ambry test of 1600+ mutations. I go there for my CF and had my daughter's ambry test done there. They are top 3 in the world for almost everything they do there. I wouldn't worry you are in good hands. For my daughters test i think it took 2 or 3 weeks to get the results.

 

[alluneedislove]

Im sure Mayo does a FULL Ambry test of 1600+ mutations. I go there for my CF and had my daughter's ambry test done there. They are top 3 in the world for almost everything they do there. I wouldn't worry you are in good hands. For my daughters test i think it took 2 or 3 weeks to get the results.

 

[alluneedislove]

Im sure Mayo does a FULL Ambry test of 1600+ mutations. I go there for my CF and had my daughter's ambry test done there. They are top 3 in the world for almost everything they do there. I wouldn't worry you are in good hands. For my daughters test i think it took 2 or 3 weeks to get the results.

 

[Ratatosk]

Their website did indicate they'll eventually test for 1500 mutations, but initially will do the test for 70. Hopefully, jennifer being that you're being treated for cf that they skipped that step and went on to the more extensive testing.

 

[Ratatosk]

Their website did indicate they'll eventually test for 1500 mutations, but initially will do the test for 70. Hopefully, jennifer being that you're being treated for cf that they skipped that step and went on to the more extensive testing.

 

[Ratatosk]

Their website did indicate they'll eventually test for 1500 mutations, but initially will do the test for 70. Hopefully, jennifer being that you're being treated for cf that they skipped that step and went on to the more extensive testing.

 

[sasha]

I had blood sent to the Mayo Clinic when they could not identify one of the genes I had. They only tested for common ones at fist (not sure what they used), but after quite a while (or maybe my clinic just didn't tell us once they got it) the Mayo CLinic results came back identifying the rarer gene. It actually took about a year for me to find out what it was...I don't know if that's usual, but 3 months ago the clinic did not know my rare mutation, then 3 weeks ago they did- after I was tested in December 2008. Hope you get your results soon<img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[sasha]

I had blood sent to the Mayo Clinic when they could not identify one of the genes I had. They only tested for common ones at fist (not sure what they used), but after quite a while (or maybe my clinic just didn't tell us once they got it) the Mayo CLinic results came back identifying the rarer gene. It actually took about a year for me to find out what it was...I don't know if that's usual, but 3 months ago the clinic did not know my rare mutation, then 3 weeks ago they did- after I was tested in December 2008. Hope you get your results soon<img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[sasha]

I had blood sent to the Mayo Clinic when they could not identify one of the genes I had. They only tested for common ones at fist (not sure what they used), but after quite a while (or maybe my clinic just didn't tell us once they got it) the Mayo CLinic results came back identifying the rarer gene. It actually took about a year for me to find out what it was...I don't know if that's usual, but 3 months ago the clinic did not know my rare mutation, then 3 weeks ago they did- after I was tested in December 2008. Hope you get your results soon<img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[hmw]

<div class="FTQUOTE"><begin quote>Im sure Mayo does a FULL Ambry test of 1600+ mutations. I go there for my CF and had my daughter's ambry test done there</end quote></div>
So just to clarify... Mayo is now doing their OWN genetic sequencing testing, called "CFTR Gene, Full Gene Analysis" when their 70 mutation panel isn't enough to provide a solid dx. While it's the same type of test, it's not the same as the "Ambry" CF Amplified test, which can only be done at Ambry's facilities in CA.

Interestingly enough, Mayo's sequencing will not identify what they call 'large deletions and promoter mutations.' I know that Ambry tests for deletions & duplications; what does this mean by promoter mutations?

 

[hmw]

<div class="FTQUOTE"><begin quote>Im sure Mayo does a FULL Ambry test of 1600+ mutations. I go there for my CF and had my daughter's ambry test done there</end quote>
So just to clarify... Mayo is now doing their OWN genetic sequencing testing, called "CFTR Gene, Full Gene Analysis" when their 70 mutation panel isn't enough to provide a solid dx. While it's the same type of test, it's not the same as the "Ambry" CF Amplified test, which can only be done at Ambry's facilities in CA.

Interestingly enough, Mayo's sequencing will not identify what they call 'large deletions and promoter mutations.' I know that Ambry tests for deletions & duplications; what does this mean by promoter mutations?

 

[hmw]

<div class="FTQUOTE"><begin quote>Im sure Mayo does a FULL Ambry test of 1600+ mutations. I go there for my CF and had my daughter's ambry test done there</end quote>
<br />So just to clarify... Mayo is now doing their OWN genetic sequencing testing, called "CFTR Gene, Full Gene Analysis" when their 70 mutation panel isn't enough to provide a solid dx. While it's the same type of test, it's not the same as the "Ambry" CF Amplified test, which can only be done at Ambry's facilities in CA.
<br />
<br />Interestingly enough, Mayo's sequencing will not identify what they call 'large deletions and promoter mutations.' I know that Ambry tests for deletions & duplications; what does this mean by promoter mutations?

 

[JennifersHope]

THanks for your replies, I am not going to be able to maintain what little sanity I have left if I don't know for 100 percent certain that they are doing a full genetic panel.

My CF nurse told me it was "the same as Ambry" but I am getting the feeling it is not.

 

[JennifersHope]

THanks for your replies, I am not going to be able to maintain what little sanity I have left if I don't know for 100 percent certain that they are doing a full genetic panel.

My CF nurse told me it was "the same as Ambry" but I am getting the feeling it is not.