Does anyone know

L

lovemybrae

Guest
My name is Twila and I have a five year old son that has severe lung problems but they have only been able to diagnose asthma thus far. He has Many of the same symptoms of CF but all sweat tests and blood panels have come back negative. We were hospitalized again from March 7th to March 13th and they ran a gene screen that also came back negative. I thought this was the certain moment that meant we couldn't have CF but have done some research on the net and it seems that there is still a chance we could have an undetectable mutation. Does anyone know where I could go to find out for sure about rare mutations and what tests are needed to detect these? We love our doctors but I know they are SO overwhelmed that I am trying to do my own research. I appreciate any help or advice! Thanks in advance!
 
L

lovemybrae

Guest
My name is Twila and I have a five year old son that has severe lung problems but they have only been able to diagnose asthma thus far. He has Many of the same symptoms of CF but all sweat tests and blood panels have come back negative. We were hospitalized again from March 7th to March 13th and they ran a gene screen that also came back negative. I thought this was the certain moment that meant we couldn't have CF but have done some research on the net and it seems that there is still a chance we could have an undetectable mutation. Does anyone know where I could go to find out for sure about rare mutations and what tests are needed to detect these? We love our doctors but I know they are SO overwhelmed that I am trying to do my own research. I appreciate any help or advice! Thanks in advance!
 
L

lovemybrae

Guest
My name is Twila and I have a five year old son that has severe lung problems but they have only been able to diagnose asthma thus far. He has Many of the same symptoms of CF but all sweat tests and blood panels have come back negative. We were hospitalized again from March 7th to March 13th and they ran a gene screen that also came back negative. I thought this was the certain moment that meant we couldn't have CF but have done some research on the net and it seems that there is still a chance we could have an undetectable mutation. Does anyone know where I could go to find out for sure about rare mutations and what tests are needed to detect these? We love our doctors but I know they are SO overwhelmed that I am trying to do my own research. I appreciate any help or advice! Thanks in advance!
 
N

NoExcuses

New member
What type of gene screen did he get? There are several - some screen for the most common genes, some screen for every gene known.

If you haven't had it, I would recommend the Ambry <b>Full Panel </b> genetic test. This will give you the most accurate answer.
 
N

NoExcuses

New member
What type of gene screen did he get? There are several - some screen for the most common genes, some screen for every gene known.

If you haven't had it, I would recommend the Ambry <b>Full Panel </b> genetic test. This will give you the most accurate answer.
 
N

NoExcuses

New member
What type of gene screen did he get? There are several - some screen for the most common genes, some screen for every gene known.

If you haven't had it, I would recommend the Ambry <b>Full Panel </b> genetic test. This will give you the most accurate answer.
 
L

lovemybrae

Guest
I'm not sure which one it was. As soon as I saw your message I left a message for our pulminologist to ask them. I will let you know as soon as I hear anything. Thanks for the help!
 
L

lovemybrae

Guest
I'm not sure which one it was. As soon as I saw your message I left a message for our pulminologist to ask them. I will let you know as soon as I hear anything. Thanks for the help!
 
L

lovemybrae

Guest
I'm not sure which one it was. As soon as I saw your message I left a message for our pulminologist to ask them. I will let you know as soon as I hear anything. Thanks for the help!
 
N

NoExcuses

New member
At the beginning of the families section is a thread from Ambry Genetics. They actually answer your genetic questions there. It's incredible!

If you have questions for Ambry, make sure to go there. They've offered many people a lot of great advice.
 
N

NoExcuses

New member
At the beginning of the families section is a thread from Ambry Genetics. They actually answer your genetic questions there. It's incredible!

If you have questions for Ambry, make sure to go there. They've offered many people a lot of great advice.
 
N

NoExcuses

New member
At the beginning of the families section is a thread from Ambry Genetics. They actually answer your genetic questions there. It's incredible!

If you have questions for Ambry, make sure to go there. They've offered many people a lot of great advice.
 
L

lovemybrae

Guest
Thank you! I heard from the pulminologist and they said that the test was the most complete one possible and that it Was sent to Ambry. I tried to find where I can ask Ambry questions but wasn't able to find it. Can you help me please? I would like to ask their opinion on that specific test and the probability of having a mutation that wouldn't show up. Thanks again for all your help! Have a great day!
 
L

lovemybrae

Guest
Thank you! I heard from the pulminologist and they said that the test was the most complete one possible and that it Was sent to Ambry. I tried to find where I can ask Ambry questions but wasn't able to find it. Can you help me please? I would like to ask their opinion on that specific test and the probability of having a mutation that wouldn't show up. Thanks again for all your help! Have a great day!
 
L

lovemybrae

Guest
Thank you! I heard from the pulminologist and they said that the test was the most complete one possible and that it Was sent to Ambry. I tried to find where I can ask Ambry questions but wasn't able to find it. Can you help me please? I would like to ask their opinion on that specific test and the probability of having a mutation that wouldn't show up. Thanks again for all your help! Have a great day!
 
C

CFHockeyMom

New member
You can post your questions here (see link)

<a target=_blank class=ftalternatingbarlinklarge href="http://forums.cysticfibrosis.com/messageview.cfm?catid=6&threadid=12677&enterthread=y&STARTPAGE=9">Ambry Questions Thread</a>
 
C

CFHockeyMom

New member
You can post your questions here (see link)

<a target=_blank class=ftalternatingbarlinklarge href="http://forums.cysticfibrosis.com/messageview.cfm?catid=6&threadid=12677&enterthread=y&STARTPAGE=9">Ambry Questions Thread</a>
 
C

CFHockeyMom

New member
You can post your questions here (see link)

<a target=_blank class=ftalternatingbarlinklarge href="http://forums.cysticfibrosis.com/messageview.cfm?catid=6&threadid=12677&enterthread=y&STARTPAGE=9">Ambry Questions Thread</a>
 
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