question about inconclusive sweat test

A

auntcob

New member
Hi folks,

My fourteen year old son recently had an inconclusive sweat test. When we were at the CF center at children's hospital in philadelphia, they also drew blood for genetic testing. The nurse called last week and said he was negative for delta 508 mutation but it would take two weeks to compete the full gene sequencing. The script said to to full gene sequencing for Cf mutation. Does anyone know if this is comparable to the ambrey amplified that so many mention on this site? Also, does anyone know if there are any stats on how many inconclusives end up being positive for CF?
 
A

auntcob

New member
Hi folks,

My fourteen year old son recently had an inconclusive sweat test. When we were at the CF center at children's hospital in philadelphia, they also drew blood for genetic testing. The nurse called last week and said he was negative for delta 508 mutation but it would take two weeks to compete the full gene sequencing. The script said to to full gene sequencing for Cf mutation. Does anyone know if this is comparable to the ambrey amplified that so many mention on this site? Also, does anyone know if there are any stats on how many inconclusives end up being positive for CF?
 
A

auntcob

New member
Hi folks,

My fourteen year old son recently had an inconclusive sweat test. When we were at the CF center at children's hospital in philadelphia, they also drew blood for genetic testing. The nurse called last week and said he was negative for delta 508 mutation but it would take two weeks to compete the full gene sequencing. The script said to to full gene sequencing for Cf mutation. Does anyone know if this is comparable to the ambrey amplified that so many mention on this site? Also, does anyone know if there are any stats on how many inconclusives end up being positive for CF?
 
A

auntcob

New member
Hi folks,

My fourteen year old son recently had an inconclusive sweat test. When we were at the CF center at children's hospital in philadelphia, they also drew blood for genetic testing. The nurse called last week and said he was negative for delta 508 mutation but it would take two weeks to compete the full gene sequencing. The script said to to full gene sequencing for Cf mutation. Does anyone know if this is comparable to the ambrey amplified that so many mention on this site? Also, does anyone know if there are any stats on how many inconclusives end up being positive for CF?
 
A

auntcob

New member
Hi folks,
<br />
<br />My fourteen year old son recently had an inconclusive sweat test. When we were at the CF center at children's hospital in philadelphia, they also drew blood for genetic testing. The nurse called last week and said he was negative for delta 508 mutation but it would take two weeks to compete the full gene sequencing. The script said to to full gene sequencing for Cf mutation. Does anyone know if this is comparable to the ambrey amplified that so many mention on this site? Also, does anyone know if there are any stats on how many inconclusives end up being positive for CF?
 
L

LouLou

New member
I just read this thread after I posted on the other one. I just want to say I think you are in very good hands with CHOP. Just in the end of the day make sure they tested for 1000+ mutations. Steve on the Ambry thread said once that sequencing with Genzyme was just fine. If they don't turn anything up you might want to ask if they check for deletions which I'm pretty sure is part of the final test Genzyme does if nothing is discovered up to that point.

I haven't heard the term inconclusive. Do you know what the score was? Usually it's less than 40 is normal, 40-60 is borderline and 60> is considered postive.

CHOP is good for wanting to see what the sweat test is because it shows CFTR functionality. The good news is that if it's inconclusive maybe it's borderline and therefore he likely has a milder mutation (at least one) which is allowing partial CFTR function. This is a best case scenerio for a late diagnosis. And the fact -most importantly- that he has a proactive mom who is going to see to it that he is taken very good care of. Getting on a cf care plan will do wonders for your son's health and energy. This really is a good thing...I know it's not easy to view it like that yet but one day you will.

Lauren 31 with cf and son 2.5 with cf.
 
L

LouLou

New member
I just read this thread after I posted on the other one. I just want to say I think you are in very good hands with CHOP. Just in the end of the day make sure they tested for 1000+ mutations. Steve on the Ambry thread said once that sequencing with Genzyme was just fine. If they don't turn anything up you might want to ask if they check for deletions which I'm pretty sure is part of the final test Genzyme does if nothing is discovered up to that point.

I haven't heard the term inconclusive. Do you know what the score was? Usually it's less than 40 is normal, 40-60 is borderline and 60> is considered postive.

CHOP is good for wanting to see what the sweat test is because it shows CFTR functionality. The good news is that if it's inconclusive maybe it's borderline and therefore he likely has a milder mutation (at least one) which is allowing partial CFTR function. This is a best case scenerio for a late diagnosis. And the fact -most importantly- that he has a proactive mom who is going to see to it that he is taken very good care of. Getting on a cf care plan will do wonders for your son's health and energy. This really is a good thing...I know it's not easy to view it like that yet but one day you will.

Lauren 31 with cf and son 2.5 with cf.
 
L

LouLou

New member
I just read this thread after I posted on the other one. I just want to say I think you are in very good hands with CHOP. Just in the end of the day make sure they tested for 1000+ mutations. Steve on the Ambry thread said once that sequencing with Genzyme was just fine. If they don't turn anything up you might want to ask if they check for deletions which I'm pretty sure is part of the final test Genzyme does if nothing is discovered up to that point.

I haven't heard the term inconclusive. Do you know what the score was? Usually it's less than 40 is normal, 40-60 is borderline and 60> is considered postive.

CHOP is good for wanting to see what the sweat test is because it shows CFTR functionality. The good news is that if it's inconclusive maybe it's borderline and therefore he likely has a milder mutation (at least one) which is allowing partial CFTR function. This is a best case scenerio for a late diagnosis. And the fact -most importantly- that he has a proactive mom who is going to see to it that he is taken very good care of. Getting on a cf care plan will do wonders for your son's health and energy. This really is a good thing...I know it's not easy to view it like that yet but one day you will.

Lauren 31 with cf and son 2.5 with cf.
 
L

LouLou

New member
I just read this thread after I posted on the other one. I just want to say I think you are in very good hands with CHOP. Just in the end of the day make sure they tested for 1000+ mutations. Steve on the Ambry thread said once that sequencing with Genzyme was just fine. If they don't turn anything up you might want to ask if they check for deletions which I'm pretty sure is part of the final test Genzyme does if nothing is discovered up to that point.

I haven't heard the term inconclusive. Do you know what the score was? Usually it's less than 40 is normal, 40-60 is borderline and 60> is considered postive.

CHOP is good for wanting to see what the sweat test is because it shows CFTR functionality. The good news is that if it's inconclusive maybe it's borderline and therefore he likely has a milder mutation (at least one) which is allowing partial CFTR function. This is a best case scenerio for a late diagnosis. And the fact -most importantly- that he has a proactive mom who is going to see to it that he is taken very good care of. Getting on a cf care plan will do wonders for your son's health and energy. This really is a good thing...I know it's not easy to view it like that yet but one day you will.

Lauren 31 with cf and son 2.5 with cf.
 
L

LouLou

New member
I just read this thread after I posted on the other one. I just want to say I think you are in very good hands with CHOP. Just in the end of the day make sure they tested for 1000+ mutations. Steve on the Ambry thread said once that sequencing with Genzyme was just fine. If they don't turn anything up you might want to ask if they check for deletions which I'm pretty sure is part of the final test Genzyme does if nothing is discovered up to that point.
<br />
<br />I haven't heard the term inconclusive. Do you know what the score was? Usually it's less than 40 is normal, 40-60 is borderline and 60> is considered postive.
<br />
<br />CHOP is good for wanting to see what the sweat test is because it shows CFTR functionality. The good news is that if it's inconclusive maybe it's borderline and therefore he likely has a milder mutation (at least one) which is allowing partial CFTR function. This is a best case scenerio for a late diagnosis. And the fact -most importantly- that he has a proactive mom who is going to see to it that he is taken very good care of. Getting on a cf care plan will do wonders for your son's health and energy. This really is a good thing...I know it's not easy to view it like that yet but one day you will.
<br />
<br />Lauren 31 with cf and son 2.5 with cf.
 
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