It is my understanding that ambry does not test for a "panel of mutations." In other words, they will test for a single mutation only or they will sequence the CFTR to detect any possible mutations. I could be wrong though. I'm pretty sure that they do not offer genetic testing where they test for only 16 mutaions.
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Accuracy of test
- Thread starter Jenybeen
- Start date
It is my understanding that ambry does not test for a "panel of mutations." In other words, they will test for a single mutation only or they will sequence the CFTR to detect any possible mutations. I could be wrong though. I'm pretty sure that they do not offer genetic testing where they test for only 16 mutaions.
It is my understanding that ambry does not test for a "panel of mutations." In other words, they will test for a single mutation only or they will sequence the CFTR to detect any possible mutations. I could be wrong though. I'm pretty sure that they do not offer genetic testing where they test for only 16 mutaions.
It is my understanding that ambry does not test for a "panel of mutations." In other words, they will test for a single mutation only or they will sequence the CFTR to detect any possible mutations. I could be wrong though. I'm pretty sure that they do not offer genetic testing where they test for only 16 mutaions.
The Ambry test that "goes all the way" as far as looking for mutations is expensive; that being said it is the best way to make a definitive genetic diagnosis.
Ambry tested according to what your doctor ordered. Many doc's order testing for only the most common mutations, not because it is less expensive perhaps but because the most common mutations are, well, more common. If this test is negative, what many doc's then fail to understand is that more extensive genetic testing might be indicated. It certainly sounds like more extensive testing is warranted in your child's case.
My daughter still doesn't have many overt lung symptoms but we are treating her lungs very proactively. Her GI symptoms were what pushed the diagnosis. Her Creon and Prevacid have absolutely made the difference in that aspect of her health. Good luck.
Ambry tested according to what your doctor ordered. Many doc's order testing for only the most common mutations, not because it is less expensive perhaps but because the most common mutations are, well, more common. If this test is negative, what many doc's then fail to understand is that more extensive genetic testing might be indicated. It certainly sounds like more extensive testing is warranted in your child's case.
My daughter still doesn't have many overt lung symptoms but we are treating her lungs very proactively. Her GI symptoms were what pushed the diagnosis. Her Creon and Prevacid have absolutely made the difference in that aspect of her health. Good luck.
The Ambry test that "goes all the way" as far as looking for mutations is expensive; that being said it is the best way to make a definitive genetic diagnosis.
Ambry tested according to what your doctor ordered. Many doc's order testing for only the most common mutations, not because it is less expensive perhaps but because the most common mutations are, well, more common. If this test is negative, what many doc's then fail to understand is that more extensive genetic testing might be indicated. It certainly sounds like more extensive testing is warranted in your child's case.
My daughter still doesn't have many overt lung symptoms but we are treating her lungs very proactively. Her GI symptoms were what pushed the diagnosis. Her Creon and Prevacid have absolutely made the difference in that aspect of her health. Good luck.
Ambry tested according to what your doctor ordered. Many doc's order testing for only the most common mutations, not because it is less expensive perhaps but because the most common mutations are, well, more common. If this test is negative, what many doc's then fail to understand is that more extensive genetic testing might be indicated. It certainly sounds like more extensive testing is warranted in your child's case.
My daughter still doesn't have many overt lung symptoms but we are treating her lungs very proactively. Her GI symptoms were what pushed the diagnosis. Her Creon and Prevacid have absolutely made the difference in that aspect of her health. Good luck.
The Ambry test that "goes all the way" as far as looking for mutations is expensive; that being said it is the best way to make a definitive genetic diagnosis.
Ambry tested according to what your doctor ordered. Many doc's order testing for only the most common mutations, not because it is less expensive perhaps but because the most common mutations are, well, more common. If this test is negative, what many doc's then fail to understand is that more extensive genetic testing might be indicated. It certainly sounds like more extensive testing is warranted in your child's case.
My daughter still doesn't have many overt lung symptoms but we are treating her lungs very proactively. Her GI symptoms were what pushed the diagnosis. Her Creon and Prevacid have absolutely made the difference in that aspect of her health. Good luck.
Ambry tested according to what your doctor ordered. Many doc's order testing for only the most common mutations, not because it is less expensive perhaps but because the most common mutations are, well, more common. If this test is negative, what many doc's then fail to understand is that more extensive genetic testing might be indicated. It certainly sounds like more extensive testing is warranted in your child's case.
My daughter still doesn't have many overt lung symptoms but we are treating her lungs very proactively. Her GI symptoms were what pushed the diagnosis. Her Creon and Prevacid have absolutely made the difference in that aspect of her health. Good luck.
The Ambry test that "goes all the way" as far as looking for mutations is expensive; that being said it is the best way to make a definitive genetic diagnosis.
Ambry tested according to what your doctor ordered. Many doc's order testing for only the most common mutations, not because it is less expensive perhaps but because the most common mutations are, well, more common. If this test is negative, what many doc's then fail to understand is that more extensive genetic testing might be indicated. It certainly sounds like more extensive testing is warranted in your child's case.
My daughter still doesn't have many overt lung symptoms but we are treating her lungs very proactively. Her GI symptoms were what pushed the diagnosis. Her Creon and Prevacid have absolutely made the difference in that aspect of her health. Good luck.
Ambry tested according to what your doctor ordered. Many doc's order testing for only the most common mutations, not because it is less expensive perhaps but because the most common mutations are, well, more common. If this test is negative, what many doc's then fail to understand is that more extensive genetic testing might be indicated. It certainly sounds like more extensive testing is warranted in your child's case.
My daughter still doesn't have many overt lung symptoms but we are treating her lungs very proactively. Her GI symptoms were what pushed the diagnosis. Her Creon and Prevacid have absolutely made the difference in that aspect of her health. Good luck.
The Ambry test that "goes all the way" as far as looking for mutations is expensive; that being said it is the best way to make a definitive genetic diagnosis.
Ambry tested according to what your doctor ordered. Many doc's order testing for only the most common mutations, not because it is less expensive perhaps but because the most common mutations are, well, more common. If this test is negative, what many doc's then fail to understand is that more extensive genetic testing might be indicated. It certainly sounds like more extensive testing is warranted in your child's case.
My daughter still doesn't have many overt lung symptoms but we are treating her lungs very proactively. Her GI symptoms were what pushed the diagnosis. Her Creon and Prevacid have absolutely made the difference in that aspect of her health. Good luck.
Ambry tested according to what your doctor ordered. Many doc's order testing for only the most common mutations, not because it is less expensive perhaps but because the most common mutations are, well, more common. If this test is negative, what many doc's then fail to understand is that more extensive genetic testing might be indicated. It certainly sounds like more extensive testing is warranted in your child's case.
My daughter still doesn't have many overt lung symptoms but we are treating her lungs very proactively. Her GI symptoms were what pushed the diagnosis. Her Creon and Prevacid have absolutely made the difference in that aspect of her health. Good luck.
The Ambry test that "goes all the way" as far as looking for mutations is expensive; that being said it is the best way to make a definitive genetic diagnosis.
Ambry tested according to what your doctor ordered. Many doc's order testing for only the most common mutations, not because it is less expensive perhaps but because the most common mutations are, well, more common. If this test is negative, what many doc's then fail to understand is that more extensive genetic testing might be indicated. It certainly sounds like more extensive testing is warranted in your child's case.
My daughter still doesn't have many overt lung symptoms but we are treating her lungs very proactively. Her GI symptoms were what pushed the diagnosis. Her Creon and Prevacid have absolutely made the difference in that aspect of her health. Good luck.
Ambry tested according to what your doctor ordered. Many doc's order testing for only the most common mutations, not because it is less expensive perhaps but because the most common mutations are, well, more common. If this test is negative, what many doc's then fail to understand is that more extensive genetic testing might be indicated. It certainly sounds like more extensive testing is warranted in your child's case.
My daughter still doesn't have many overt lung symptoms but we are treating her lungs very proactively. Her GI symptoms were what pushed the diagnosis. Her Creon and Prevacid have absolutely made the difference in that aspect of her health. Good luck.
I'm way out of my league when <b>okok</b> enters the genetics discussion - so I have a question for her (him?) <img src="i/expressions/face-icon-small-smile.gif" border="0">
The Ambry ordering form lists "DF08 First" (tests for Delta F508 first), and then the next "boxes" to check are as follows:
CF AMPLIFIED (full gene, then gross del/dup if indicated)
CF Full Gene Analysis
So if a doctor ordered the CF Full Gene Analysis would this be considered a "panel"?
The Ambry ordering form lists "DF08 First" (tests for Delta F508 first), and then the next "boxes" to check are as follows:
CF AMPLIFIED (full gene, then gross del/dup if indicated)
CF Full Gene Analysis
So if a doctor ordered the CF Full Gene Analysis would this be considered a "panel"?
I'm way out of my league when <b>okok</b> enters the genetics discussion - so I have a question for her (him?) <img src="i/expressions/face-icon-small-smile.gif" border="0">
The Ambry ordering form lists "DF08 First" (tests for Delta F508 first), and then the next "boxes" to check are as follows:
CF AMPLIFIED (full gene, then gross del/dup if indicated)
CF Full Gene Analysis
So if a doctor ordered the CF Full Gene Analysis would this be considered a "panel"?
The Ambry ordering form lists "DF08 First" (tests for Delta F508 first), and then the next "boxes" to check are as follows:
CF AMPLIFIED (full gene, then gross del/dup if indicated)
CF Full Gene Analysis
So if a doctor ordered the CF Full Gene Analysis would this be considered a "panel"?
I'm way out of my league when <b>okok</b> enters the genetics discussion - so I have a question for her (him?) <img src="i/expressions/face-icon-small-smile.gif" border="0">
The Ambry ordering form lists "DF08 First" (tests for Delta F508 first), and then the next "boxes" to check are as follows:
CF AMPLIFIED (full gene, then gross del/dup if indicated)
CF Full Gene Analysis
So if a doctor ordered the CF Full Gene Analysis would this be considered a "panel"?
The Ambry ordering form lists "DF08 First" (tests for Delta F508 first), and then the next "boxes" to check are as follows:
CF AMPLIFIED (full gene, then gross del/dup if indicated)
CF Full Gene Analysis
So if a doctor ordered the CF Full Gene Analysis would this be considered a "panel"?
I'm way out of my league when <b>okok</b> enters the genetics discussion - so I have a question for her (him?) <img src="i/expressions/face-icon-small-smile.gif" border="0">
The Ambry ordering form lists "DF08 First" (tests for Delta F508 first), and then the next "boxes" to check are as follows:
CF AMPLIFIED (full gene, then gross del/dup if indicated)
CF Full Gene Analysis
So if a doctor ordered the CF Full Gene Analysis would this be considered a "panel"?
The Ambry ordering form lists "DF08 First" (tests for Delta F508 first), and then the next "boxes" to check are as follows:
CF AMPLIFIED (full gene, then gross del/dup if indicated)
CF Full Gene Analysis
So if a doctor ordered the CF Full Gene Analysis would this be considered a "panel"?
I'm way out of my league when <b>okok</b> enters the genetics discussion - so I have a question for her (him?) <img src="i/expressions/face-icon-small-smile.gif" border="0">
The Ambry ordering form lists "DF08 First" (tests for Delta F508 first), and then the next "boxes" to check are as follows:
CF AMPLIFIED (full gene, then gross del/dup if indicated)
CF Full Gene Analysis
So if a doctor ordered the CF Full Gene Analysis would this be considered a "panel"?
The Ambry ordering form lists "DF08 First" (tests for Delta F508 first), and then the next "boxes" to check are as follows:
CF AMPLIFIED (full gene, then gross del/dup if indicated)
CF Full Gene Analysis
So if a doctor ordered the CF Full Gene Analysis would this be considered a "panel"?
I'm way out of my league when <b>okok</b> enters the genetics discussion - so I have a question for her (him?) <img src="i/expressions/face-icon-small-smile.gif" border="0">
The Ambry ordering form lists "DF08 First" (tests for Delta F508 first), and then the next "boxes" to check are as follows:
CF AMPLIFIED (full gene, then gross del/dup if indicated)
CF Full Gene Analysis
So if a doctor ordered the CF Full Gene Analysis would this be considered a "panel"?
The Ambry ordering form lists "DF08 First" (tests for Delta F508 first), and then the next "boxes" to check are as follows:
CF AMPLIFIED (full gene, then gross del/dup if indicated)
CF Full Gene Analysis
So if a doctor ordered the CF Full Gene Analysis would this be considered a "panel"?
Continue to ask for full genetic testing, that is currently over 1500 mutations.
Dr.'s sometimes try to save the insurance company $$$ by ordering the cheaper tests, but if you have reason to believe he might have CF (and you do) then keep asking until someone orders it. Change doctors if you have to. Are you getting treated at a certified CF clinic? It would really be helpful if you were at a CF clinic.
As for your other question about Creon working and would that point to a CF diagnosis a little more.... I couldn't say for sure, yes maybe.... do you know if they did a fecal fat test? If the results of that could also lean towards a positive diagnosis. I don't know for certain, but I think there might be people out there who benefit from enzymes but do not have CF. I think it best to keep up the testing until you know for sure. In the meantime it is good news that the enzymes help his digestive issues.
Dr.'s sometimes try to save the insurance company $$$ by ordering the cheaper tests, but if you have reason to believe he might have CF (and you do) then keep asking until someone orders it. Change doctors if you have to. Are you getting treated at a certified CF clinic? It would really be helpful if you were at a CF clinic.
As for your other question about Creon working and would that point to a CF diagnosis a little more.... I couldn't say for sure, yes maybe.... do you know if they did a fecal fat test? If the results of that could also lean towards a positive diagnosis. I don't know for certain, but I think there might be people out there who benefit from enzymes but do not have CF. I think it best to keep up the testing until you know for sure. In the meantime it is good news that the enzymes help his digestive issues.
Continue to ask for full genetic testing, that is currently over 1500 mutations.
Dr.'s sometimes try to save the insurance company $$$ by ordering the cheaper tests, but if you have reason to believe he might have CF (and you do) then keep asking until someone orders it. Change doctors if you have to. Are you getting treated at a certified CF clinic? It would really be helpful if you were at a CF clinic.
As for your other question about Creon working and would that point to a CF diagnosis a little more.... I couldn't say for sure, yes maybe.... do you know if they did a fecal fat test? If the results of that could also lean towards a positive diagnosis. I don't know for certain, but I think there might be people out there who benefit from enzymes but do not have CF. I think it best to keep up the testing until you know for sure. In the meantime it is good news that the enzymes help his digestive issues.
Dr.'s sometimes try to save the insurance company $$$ by ordering the cheaper tests, but if you have reason to believe he might have CF (and you do) then keep asking until someone orders it. Change doctors if you have to. Are you getting treated at a certified CF clinic? It would really be helpful if you were at a CF clinic.
As for your other question about Creon working and would that point to a CF diagnosis a little more.... I couldn't say for sure, yes maybe.... do you know if they did a fecal fat test? If the results of that could also lean towards a positive diagnosis. I don't know for certain, but I think there might be people out there who benefit from enzymes but do not have CF. I think it best to keep up the testing until you know for sure. In the meantime it is good news that the enzymes help his digestive issues.
Continue to ask for full genetic testing, that is currently over 1500 mutations.
Dr.'s sometimes try to save the insurance company $$$ by ordering the cheaper tests, but if you have reason to believe he might have CF (and you do) then keep asking until someone orders it. Change doctors if you have to. Are you getting treated at a certified CF clinic? It would really be helpful if you were at a CF clinic.
As for your other question about Creon working and would that point to a CF diagnosis a little more.... I couldn't say for sure, yes maybe.... do you know if they did a fecal fat test? If the results of that could also lean towards a positive diagnosis. I don't know for certain, but I think there might be people out there who benefit from enzymes but do not have CF. I think it best to keep up the testing until you know for sure. In the meantime it is good news that the enzymes help his digestive issues.
Dr.'s sometimes try to save the insurance company $$$ by ordering the cheaper tests, but if you have reason to believe he might have CF (and you do) then keep asking until someone orders it. Change doctors if you have to. Are you getting treated at a certified CF clinic? It would really be helpful if you were at a CF clinic.
As for your other question about Creon working and would that point to a CF diagnosis a little more.... I couldn't say for sure, yes maybe.... do you know if they did a fecal fat test? If the results of that could also lean towards a positive diagnosis. I don't know for certain, but I think there might be people out there who benefit from enzymes but do not have CF. I think it best to keep up the testing until you know for sure. In the meantime it is good news that the enzymes help his digestive issues.
Continue to ask for full genetic testing, that is currently over 1500 mutations.
Dr.'s sometimes try to save the insurance company $$$ by ordering the cheaper tests, but if you have reason to believe he might have CF (and you do) then keep asking until someone orders it. Change doctors if you have to. Are you getting treated at a certified CF clinic? It would really be helpful if you were at a CF clinic.
As for your other question about Creon working and would that point to a CF diagnosis a little more.... I couldn't say for sure, yes maybe.... do you know if they did a fecal fat test? If the results of that could also lean towards a positive diagnosis. I don't know for certain, but I think there might be people out there who benefit from enzymes but do not have CF. I think it best to keep up the testing until you know for sure. In the meantime it is good news that the enzymes help his digestive issues.
Dr.'s sometimes try to save the insurance company $$$ by ordering the cheaper tests, but if you have reason to believe he might have CF (and you do) then keep asking until someone orders it. Change doctors if you have to. Are you getting treated at a certified CF clinic? It would really be helpful if you were at a CF clinic.
As for your other question about Creon working and would that point to a CF diagnosis a little more.... I couldn't say for sure, yes maybe.... do you know if they did a fecal fat test? If the results of that could also lean towards a positive diagnosis. I don't know for certain, but I think there might be people out there who benefit from enzymes but do not have CF. I think it best to keep up the testing until you know for sure. In the meantime it is good news that the enzymes help his digestive issues.