Genetic panel update

N

NAVCHAPDOC

New member
I have been posting questions and information on this board recently about my 2 year old daughter Molly. She has had 2 episodes of pancreatitis in the last 3 months. Everyone including her Dr's are scratching their heads as to why. They sent a genetic panel out because they could not get her to sweat enough for the sweat test. The panel went to Quest and the results are in. According to Quest she is negative
across the board. I clearly understand that Quest only screens for 35 or so of the mutations but the GI specialist said that the ones they do test for account for 98% of all known CF cases. I did mention the Ambry test and he said he had never even heard of it and that the Quest panel was all that he ever used and it has not failed him yet. I would like to get the Ambry panel but don't know how to go about requesting it. Anyway I always had kind of a gut feeling that it was something other than CF causing her strange BM's and pancreatitis. I guess now we really have to start digging deeper. Thanks to all for the good advice and support.
John
 
N

NAVCHAPDOC

New member
I have been posting questions and information on this board recently about my 2 year old daughter Molly. She has had 2 episodes of pancreatitis in the last 3 months. Everyone including her Dr's are scratching their heads as to why. They sent a genetic panel out because they could not get her to sweat enough for the sweat test. The panel went to Quest and the results are in. According to Quest she is negative
across the board. I clearly understand that Quest only screens for 35 or so of the mutations but the GI specialist said that the ones they do test for account for 98% of all known CF cases. I did mention the Ambry test and he said he had never even heard of it and that the Quest panel was all that he ever used and it has not failed him yet. I would like to get the Ambry panel but don't know how to go about requesting it. Anyway I always had kind of a gut feeling that it was something other than CF causing her strange BM's and pancreatitis. I guess now we really have to start digging deeper. Thanks to all for the good advice and support.
John
 
N

NAVCHAPDOC

New member
I have been posting questions and information on this board recently about my 2 year old daughter Molly. She has had 2 episodes of pancreatitis in the last 3 months. Everyone including her Dr's are scratching their heads as to why. They sent a genetic panel out because they could not get her to sweat enough for the sweat test. The panel went to Quest and the results are in. According to Quest she is negative
<br />across the board. I clearly understand that Quest only screens for 35 or so of the mutations but the GI specialist said that the ones they do test for account for 98% of all known CF cases. I did mention the Ambry test and he said he had never even heard of it and that the Quest panel was all that he ever used and it has not failed him yet. I would like to get the Ambry panel but don't know how to go about requesting it. Anyway I always had kind of a gut feeling that it was something other than CF causing her strange BM's and pancreatitis. I guess now we really have to start digging deeper. Thanks to all for the good advice and support.
<br />John
 
R

Ratatosk

Administrator
Staff member
IMO, I would push for the amplified screening. I believe Quest, Ambry and Mayo all screen for over 1500 mutations. IMO testing for 35 is NOT adequate. Especially if you still don't have answers.
 
R

Ratatosk

Administrator
Staff member
IMO, I would push for the amplified screening. I believe Quest, Ambry and Mayo all screen for over 1500 mutations. IMO testing for 35 is NOT adequate. Especially if you still don't have answers.
 
R

Ratatosk

Administrator
Staff member
IMO, I would push for the amplified screening. I believe Quest, Ambry and Mayo all screen for over 1500 mutations. IMO testing for 35 is NOT adequate. Especially if you still don't have answers.
 
M

Mommafirst

Guest
IMO any doctor that tells you that 35 mutations is enough to rule out CF is not capable of heading up an inquiry into whether or not Molly has CF. Go to an ACCREDITED CF center and have them test her. CF centers WILL know all about ambry and would never presume to think that ruling out 35 mutations is "good enough".
 
M

Mommafirst

Guest
IMO any doctor that tells you that 35 mutations is enough to rule out CF is not capable of heading up an inquiry into whether or not Molly has CF. Go to an ACCREDITED CF center and have them test her. CF centers WILL know all about ambry and would never presume to think that ruling out 35 mutations is "good enough".
 
M

Mommafirst

Guest
IMO any doctor that tells you that 35 mutations is enough to rule out CF is not capable of heading up an inquiry into whether or not Molly has CF. Go to an ACCREDITED CF center and have them test her. CF centers WILL know all about ambry and would never presume to think that ruling out 35 mutations is "good enough".
 
L

LouLou

New member
If working with Quest you want to have CF Complete.
It's over 1000 mutations.
<a target=_blank class=ftalternatingbarlinklarge href="http://www.questdiagnostics.com/hcp/topics/cf/cf.html
">http://www.questdiagnostics.com/hcp/topics/cf/cf.html
</a>You may be able to call them up and request them to continue testing Molly's sample to this add'l level. They will likely need doctor's order though as well. Good luck! DON'T QUITE NOW!!
 
L

LouLou

New member
If working with Quest you want to have CF Complete.
It's over 1000 mutations.
<a target=_blank class=ftalternatingbarlinklarge href="http://www.questdiagnostics.com/hcp/topics/cf/cf.html
">http://www.questdiagnostics.com/hcp/topics/cf/cf.html
</a>You may be able to call them up and request them to continue testing Molly's sample to this add'l level. They will likely need doctor's order though as well. Good luck! DON'T QUITE NOW!!
 
L

LouLou

New member
If working with Quest you want to have CF Complete.
<br />It's over 1000 mutations.
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.questdiagnostics.com/hcp/topics/cf/cf.html
">http://www.questdiagnostics.com/hcp/topics/cf/cf.html
</a><br />You may be able to call them up and request them to continue testing Molly's sample to this add'l level. They will likely need doctor's order though as well. Good luck! DON'T QUITE NOW!!
 
H

hmw

New member
A bit more info about Quest's testing... they will detect quite a bit more than the 1000 mutations their main web page talks about. They really need to update that!

<a target=_blank class=ftalternatingbarlinklarge href="http://www.questdiagnostics.com/hcp/intguide/jsp/showintguidepage.jsp?fn=TH_CysticFibrosisComplete.htm">Quest genetic testing</a>
 
H

hmw

New member
A bit more info about Quest's testing... they will detect quite a bit more than the 1000 mutations their main web page talks about. They really need to update that!

<a target=_blank class=ftalternatingbarlinklarge href="http://www.questdiagnostics.com/hcp/intguide/jsp/showintguidepage.jsp?fn=TH_CysticFibrosisComplete.htm">Quest genetic testing</a>
 
H

hmw

New member
A bit more info about Quest's testing... they will detect quite a bit more than the 1000 mutations their main web page talks about. They really need to update that!
<br />
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://www.questdiagnostics.com/hcp/intguide/jsp/showintguidepage.jsp?fn=TH_CysticFibrosisComplete.htm">Quest genetic testing</a>
<br />
<br />
 
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