saveferris2009
New member
there is an edit button on the bottom right of each of your posts. you can go back and edit whenever you want <img src="i/expressions/face-icon-small-smile.gif" border="0">
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So sorry! Typing.While.Upset. (ignore previous ramblings)
- Thread starter Kkids
- Start date
saveferris2009
New member
there is an edit button on the bottom right of each of your posts. you can go back and edit whenever you want <img src="i/expressions/face-icon-small-smile.gif" border="0">
saveferris2009
New member
there is an edit button on the bottom right of each of your posts. you can go back and edit whenever you want <img src="i/expressions/face-icon-small-smile.gif" border="0">
saveferris2009
New member
there is an edit button on the bottom right of each of your posts. you can go back and edit whenever you want <img src="i/expressions/face-icon-small-smile.gif" border="0">
saveferris2009
New member
there is an edit button on the bottom right of each of your posts. you can go back and edit whenever you want <img src="i/expressions/face-icon-small-smile.gif" border="0">
NYCLawGirl
New member
Even with the full panel, deletion mutations often aren't tested for, so there is still a gap. I was tested with the full panel and had an unidentified mutation when I was younger, but it was later discovered that I have a complete deletion of the CFTR gene on one side. My sweat test numbers weren't borderline though, so I was able to be "diagnosed" even without knowing my second mutation.
Ask your CF doc (or whoever ran the Ambry panel) whether the test checked for ALL KNOWN CF mutations including deletions. If the answer is no or even "I'm not sure", demand more answers and possibly more testing. Believe me, all the trouble will seem more than worth it if it turns out your child needs care that she is not currently getting because of a botched diagnosis.
Good luck, and I also want to add my congrats on clearly being a very persistent parent. Whatever is causing your daughter's medical issues, she is lucky to have a mom with the drive to get her the care she needs!
Ask your CF doc (or whoever ran the Ambry panel) whether the test checked for ALL KNOWN CF mutations including deletions. If the answer is no or even "I'm not sure", demand more answers and possibly more testing. Believe me, all the trouble will seem more than worth it if it turns out your child needs care that she is not currently getting because of a botched diagnosis.
Good luck, and I also want to add my congrats on clearly being a very persistent parent. Whatever is causing your daughter's medical issues, she is lucky to have a mom with the drive to get her the care she needs!
NYCLawGirl
New member
Even with the full panel, deletion mutations often aren't tested for, so there is still a gap. I was tested with the full panel and had an unidentified mutation when I was younger, but it was later discovered that I have a complete deletion of the CFTR gene on one side. My sweat test numbers weren't borderline though, so I was able to be "diagnosed" even without knowing my second mutation.
Ask your CF doc (or whoever ran the Ambry panel) whether the test checked for ALL KNOWN CF mutations including deletions. If the answer is no or even "I'm not sure", demand more answers and possibly more testing. Believe me, all the trouble will seem more than worth it if it turns out your child needs care that she is not currently getting because of a botched diagnosis.
Good luck, and I also want to add my congrats on clearly being a very persistent parent. Whatever is causing your daughter's medical issues, she is lucky to have a mom with the drive to get her the care she needs!
Ask your CF doc (or whoever ran the Ambry panel) whether the test checked for ALL KNOWN CF mutations including deletions. If the answer is no or even "I'm not sure", demand more answers and possibly more testing. Believe me, all the trouble will seem more than worth it if it turns out your child needs care that she is not currently getting because of a botched diagnosis.
Good luck, and I also want to add my congrats on clearly being a very persistent parent. Whatever is causing your daughter's medical issues, she is lucky to have a mom with the drive to get her the care she needs!
NYCLawGirl
New member
Even with the full panel, deletion mutations often aren't tested for, so there is still a gap. I was tested with the full panel and had an unidentified mutation when I was younger, but it was later discovered that I have a complete deletion of the CFTR gene on one side. My sweat test numbers weren't borderline though, so I was able to be "diagnosed" even without knowing my second mutation.
Ask your CF doc (or whoever ran the Ambry panel) whether the test checked for ALL KNOWN CF mutations including deletions. If the answer is no or even "I'm not sure", demand more answers and possibly more testing. Believe me, all the trouble will seem more than worth it if it turns out your child needs care that she is not currently getting because of a botched diagnosis.
Good luck, and I also want to add my congrats on clearly being a very persistent parent. Whatever is causing your daughter's medical issues, she is lucky to have a mom with the drive to get her the care she needs!
Ask your CF doc (or whoever ran the Ambry panel) whether the test checked for ALL KNOWN CF mutations including deletions. If the answer is no or even "I'm not sure", demand more answers and possibly more testing. Believe me, all the trouble will seem more than worth it if it turns out your child needs care that she is not currently getting because of a botched diagnosis.
Good luck, and I also want to add my congrats on clearly being a very persistent parent. Whatever is causing your daughter's medical issues, she is lucky to have a mom with the drive to get her the care she needs!
NYCLawGirl
New member
Even with the full panel, deletion mutations often aren't tested for, so there is still a gap. I was tested with the full panel and had an unidentified mutation when I was younger, but it was later discovered that I have a complete deletion of the CFTR gene on one side. My sweat test numbers weren't borderline though, so I was able to be "diagnosed" even without knowing my second mutation.
Ask your CF doc (or whoever ran the Ambry panel) whether the test checked for ALL KNOWN CF mutations including deletions. If the answer is no or even "I'm not sure", demand more answers and possibly more testing. Believe me, all the trouble will seem more than worth it if it turns out your child needs care that she is not currently getting because of a botched diagnosis.
Good luck, and I also want to add my congrats on clearly being a very persistent parent. Whatever is causing your daughter's medical issues, she is lucky to have a mom with the drive to get her the care she needs!
Ask your CF doc (or whoever ran the Ambry panel) whether the test checked for ALL KNOWN CF mutations including deletions. If the answer is no or even "I'm not sure", demand more answers and possibly more testing. Believe me, all the trouble will seem more than worth it if it turns out your child needs care that she is not currently getting because of a botched diagnosis.
Good luck, and I also want to add my congrats on clearly being a very persistent parent. Whatever is causing your daughter's medical issues, she is lucky to have a mom with the drive to get her the care she needs!
NYCLawGirl
New member
Even with the full panel, deletion mutations often aren't tested for, so there is still a gap. I was tested with the full panel and had an unidentified mutation when I was younger, but it was later discovered that I have a complete deletion of the CFTR gene on one side. My sweat test numbers weren't borderline though, so I was able to be "diagnosed" even without knowing my second mutation.
<br />
<br />Ask your CF doc (or whoever ran the Ambry panel) whether the test checked for ALL KNOWN CF mutations including deletions. If the answer is no or even "I'm not sure", demand more answers and possibly more testing. Believe me, all the trouble will seem more than worth it if it turns out your child needs care that she is not currently getting because of a botched diagnosis.
<br />
<br />Good luck, and I also want to add my congrats on clearly being a very persistent parent. Whatever is causing your daughter's medical issues, she is lucky to have a mom with the drive to get her the care she needs!
<br />
<br />Ask your CF doc (or whoever ran the Ambry panel) whether the test checked for ALL KNOWN CF mutations including deletions. If the answer is no or even "I'm not sure", demand more answers and possibly more testing. Believe me, all the trouble will seem more than worth it if it turns out your child needs care that she is not currently getting because of a botched diagnosis.
<br />
<br />Good luck, and I also want to add my congrats on clearly being a very persistent parent. Whatever is causing your daughter's medical issues, she is lucky to have a mom with the drive to get her the care she needs!
saveferris2009
New member
Let's ask Steve, Piper, if the Ambry Amplified includes deletion testing.
saveferris2009
New member
Let's ask Steve, Piper, if the Ambry Amplified includes deletion testing.
saveferris2009
New member
Let's ask Steve, Piper, if the Ambry Amplified includes deletion testing.
saveferris2009
New member
Let's ask Steve, Piper, if the Ambry Amplified includes deletion testing.
saveferris2009
New member
Let's ask Steve, Piper, if the Ambry Amplified includes deletion testing.
NYCLawGirl
New member
Amy, someone just asked that a couple of days ago. This was his answer:
"The deletion testing is part of the Amplified test, but if they only ordered the sequence part then the deletions are not done. They can be added by the doctor requesting us to run this test, we usually have enough DNA left over from the original sample so we don't need another blood sample."
This was my understanding too, that the doctor has to specifically request the deletion test. They are sever mutations only found in like 1-2% of the CF population, so they are randomly left off of most people's tests. Grrrr...
"The deletion testing is part of the Amplified test, but if they only ordered the sequence part then the deletions are not done. They can be added by the doctor requesting us to run this test, we usually have enough DNA left over from the original sample so we don't need another blood sample."
This was my understanding too, that the doctor has to specifically request the deletion test. They are sever mutations only found in like 1-2% of the CF population, so they are randomly left off of most people's tests. Grrrr...
NYCLawGirl
New member
Amy, someone just asked that a couple of days ago. This was his answer:
"The deletion testing is part of the Amplified test, but if they only ordered the sequence part then the deletions are not done. They can be added by the doctor requesting us to run this test, we usually have enough DNA left over from the original sample so we don't need another blood sample."
This was my understanding too, that the doctor has to specifically request the deletion test. They are sever mutations only found in like 1-2% of the CF population, so they are randomly left off of most people's tests. Grrrr...
"The deletion testing is part of the Amplified test, but if they only ordered the sequence part then the deletions are not done. They can be added by the doctor requesting us to run this test, we usually have enough DNA left over from the original sample so we don't need another blood sample."
This was my understanding too, that the doctor has to specifically request the deletion test. They are sever mutations only found in like 1-2% of the CF population, so they are randomly left off of most people's tests. Grrrr...
NYCLawGirl
New member
Amy, someone just asked that a couple of days ago. This was his answer:
"The deletion testing is part of the Amplified test, but if they only ordered the sequence part then the deletions are not done. They can be added by the doctor requesting us to run this test, we usually have enough DNA left over from the original sample so we don't need another blood sample."
This was my understanding too, that the doctor has to specifically request the deletion test. They are sever mutations only found in like 1-2% of the CF population, so they are randomly left off of most people's tests. Grrrr...
"The deletion testing is part of the Amplified test, but if they only ordered the sequence part then the deletions are not done. They can be added by the doctor requesting us to run this test, we usually have enough DNA left over from the original sample so we don't need another blood sample."
This was my understanding too, that the doctor has to specifically request the deletion test. They are sever mutations only found in like 1-2% of the CF population, so they are randomly left off of most people's tests. Grrrr...
NYCLawGirl
New member
Amy, someone just asked that a couple of days ago. This was his answer:
"The deletion testing is part of the Amplified test, but if they only ordered the sequence part then the deletions are not done. They can be added by the doctor requesting us to run this test, we usually have enough DNA left over from the original sample so we don't need another blood sample."
This was my understanding too, that the doctor has to specifically request the deletion test. They are sever mutations only found in like 1-2% of the CF population, so they are randomly left off of most people's tests. Grrrr...
"The deletion testing is part of the Amplified test, but if they only ordered the sequence part then the deletions are not done. They can be added by the doctor requesting us to run this test, we usually have enough DNA left over from the original sample so we don't need another blood sample."
This was my understanding too, that the doctor has to specifically request the deletion test. They are sever mutations only found in like 1-2% of the CF population, so they are randomly left off of most people's tests. Grrrr...
NYCLawGirl
New member
Amy, someone just asked that a couple of days ago. This was his answer:
<br />
<br />"The deletion testing is part of the Amplified test, but if they only ordered the sequence part then the deletions are not done. They can be added by the doctor requesting us to run this test, we usually have enough DNA left over from the original sample so we don't need another blood sample."
<br />
<br />This was my understanding too, that the doctor has to specifically request the deletion test. They are sever mutations only found in like 1-2% of the CF population, so they are randomly left off of most people's tests. Grrrr...
<br />
<br />"The deletion testing is part of the Amplified test, but if they only ordered the sequence part then the deletions are not done. They can be added by the doctor requesting us to run this test, we usually have enough DNA left over from the original sample so we don't need another blood sample."
<br />
<br />This was my understanding too, that the doctor has to specifically request the deletion test. They are sever mutations only found in like 1-2% of the CF population, so they are randomly left off of most people's tests. Grrrr...