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Welcome Ambry Genetics
- Thread starter Buckeye
- Start date
HI Steve-
I wanted to let you know the results from AMBRY came in and unfortunately I have 12TG 5T. I have been researching and researching to see what this with a CF gene would present as, and there is no clear cut answers. I can handle CBAVD, and am aware that is a likely option, but I am not sure the chance of the other symptoms. Are you aware of how a child with this combo would present? Would this be CF just in a milder form? Would you recommend PGD?
Thanks so much for your help
I wanted to let you know the results from AMBRY came in and unfortunately I have 12TG 5T. I have been researching and researching to see what this with a CF gene would present as, and there is no clear cut answers. I can handle CBAVD, and am aware that is a likely option, but I am not sure the chance of the other symptoms. Are you aware of how a child with this combo would present? Would this be CF just in a milder form? Would you recommend PGD?
Thanks so much for your help
M
momofcash
Guest
Hi Steve!
Cash's mom again. I was wondering if you had any insight on how much longer his test results would be? Before you said you it didn't look as though his would take as long as usual. Did something change? So to be a pest. Just anxious.
Thank you
Cash's mom again. I was wondering if you had any insight on how much longer his test results would be? Before you said you it didn't look as though his would take as long as usual. Did something change? So to be a pest. Just anxious.
Thank you
M
momofcash
Guest
That was sorry to be a pest
M
momofcash
Guest
Nevermind Steve. I just spoke with the hospital. Thank you.
M
momofcash
Guest
Sorry to bother you again.
I was wondering if maybe you had more information about the mutations my son has. It is hard to find anything about them. We knew from his first panel that he has G542X and now we understand he has R297Q and R74Q. We understand that they are rare. That it looks to be a milder form. That CBAVD will probably be an issue for him. Just trying to get as much information as I can.
Cash Lundberg
1-9-2006
Milwaukee Children's
Thank you so much!
Amy
I was wondering if maybe you had more information about the mutations my son has. It is hard to find anything about them. We knew from his first panel that he has G542X and now we understand he has R297Q and R74Q. We understand that they are rare. That it looks to be a milder form. That CBAVD will probably be an issue for him. Just trying to get as much information as I can.
Cash Lundberg
1-9-2006
Milwaukee Children's
Thank you so much!
Amy
StevenKeiles
New member
Amy,
I believe you have already had several converations with Dania, I would agree with everything she told you. In fact, we had spoken about the results, so she has all the latest information.
Let me know if you have any other questions.
LRL,
I believe I already answered your issues privately, if not let me know about any other questions,
Steve
I believe you have already had several converations with Dania, I would agree with everything she told you. In fact, we had spoken about the results, so she has all the latest information.
Let me know if you have any other questions.
LRL,
I believe I already answered your issues privately, if not let me know about any other questions,
Steve
M
momofcash
Guest
Yes Thank you. She told me yesterday she had spoken with you. I am trying not to drive you or her crazy. Thank you for all the information.
Amy
Amy
Hi Steve-
The last we spoke was via this message board and you had recommended discussing this after I received the results. Now that I have the knowledge of the 12 TG 5T, I was hoping you could give me your professional opinion as to whether the likely symptoms are similar to that of CF, or more specific such as CBAVD or perhaps asthma like symptoms. We are really unsure as to whether PGD is the appropriate next step or if the information does not warrant that next step. Please let me know if there is anything more you can add.
Thanks so much for your help
The last we spoke was via this message board and you had recommended discussing this after I received the results. Now that I have the knowledge of the 12 TG 5T, I was hoping you could give me your professional opinion as to whether the likely symptoms are similar to that of CF, or more specific such as CBAVD or perhaps asthma like symptoms. We are really unsure as to whether PGD is the appropriate next step or if the information does not warrant that next step. Please let me know if there is anything more you can add.
Thanks so much for your help
clawson5104
New member
i had previously posted on "newly diagnosed" about my son being tested for cf.
i recently had a reply stating "if you got the genetic testing through Ambry Genetics, you can speak to them on the Families board and check the status of your test "...........how do i go about checking the status of my son's test??????
the pulmonologist and cf nurse said it was being sent to ambry. so i guess it is.
pleast help....thanks
i recently had a reply stating "if you got the genetic testing through Ambry Genetics, you can speak to them on the Families board and check the status of your test "...........how do i go about checking the status of my son's test??????
the pulmonologist and cf nurse said it was being sent to ambry. so i guess it is.
pleast help....thanks
clawson5104
New member
Steve,
got news today that wade's initial part of the test showed NO Df508. i'm glad for that and at least knowing SOMETHING. but was wondering how often cf still occurs without this common gene. any stories or knowledge would be helpful...
Also if there is anything else u can tell me about the status of his test,,r they almost done? sorry.....just wondering.
thanks
Carrie....
(mom of Wade Lawson dob 6/26/05)
got news today that wade's initial part of the test showed NO Df508. i'm glad for that and at least knowing SOMETHING. but was wondering how often cf still occurs without this common gene. any stories or knowledge would be helpful...
Also if there is anything else u can tell me about the status of his test,,r they almost done? sorry.....just wondering.
thanks
Carrie....
(mom of Wade Lawson dob 6/26/05)
damiensmom
New member
Steve
Could you tell me what kind of mutation 2183aag is? I have not been able to find much info on it.
Could you tell me what kind of mutation 2183aag is? I have not been able to find much info on it.
<begin quote><i>Originally posted by: <b>damiensmom</b></i>
Steve
Could you tell me what kind of mutation 2183aag is? I have not been able to find much info on it.</end quote>
The only thing I know (which is why we have Steve LOL) is that it is a more rare one usually found in families of Italian hertiage. Your turn, Steve!
Steve
Could you tell me what kind of mutation 2183aag is? I have not been able to find much info on it.</end quote>
The only thing I know (which is why we have Steve LOL) is that it is a more rare one usually found in families of Italian hertiage. Your turn, Steve!
StevenKeiles
New member
Carrie and Edna,
The 508 portion of the test usually takes only a few days. After that the complete analysis usually takes an additional 2-3 weeks. Final results will be sent to your doctors as soon as they are completed.
Obviously most people with CF have at least one deltaF508, however there are still a lot of people who can have two other mutations. I know it is hard to wait but you need to wait for the final results to know for sure.
Good luck to both of you.
Steve
The 508 portion of the test usually takes only a few days. After that the complete analysis usually takes an additional 2-3 weeks. Final results will be sent to your doctors as soon as they are completed.
Obviously most people with CF have at least one deltaF508, however there are still a lot of people who can have two other mutations. I know it is hard to wait but you need to wait for the final results to know for sure.
Good luck to both of you.
Steve
StevenKeiles
New member
Aria and Melissa,
Actually the 2183AA>G is not that rare of a mutation. Most of what is in the literature is older. This is a mutation that we have seen many times and would be considered a typical CF disease causing mutation.
Remember that outside of deltaF508 almost all mutations are rare. Given that, of all the rest of the rare mutations, this is not one that I would consider very rare and I believe we have seen it in a variety of ethnic backgrounds.
I hope that helps
Steve
Actually the 2183AA>G is not that rare of a mutation. Most of what is in the literature is older. This is a mutation that we have seen many times and would be considered a typical CF disease causing mutation.
Remember that outside of deltaF508 almost all mutations are rare. Given that, of all the rest of the rare mutations, this is not one that I would consider very rare and I believe we have seen it in a variety of ethnic backgrounds.
I hope that helps
Steve
StevenKeiles
New member
Aria and Melissa,
Actually the 2183AA>G is not that rare of a mutation. Most of what is in the literature is older. This is a mutation that we have seen many times and would be considered a typical CF disease causing mutation.
Remember that outside of deltaF508 almost all mutations are rare. Given that, of all the rest of the rare mutations, this is not one that I would consider very rare and I believe we have seen it in a variety of ethnic backgrounds.
I hope that helps
Steve
Actually the 2183AA>G is not that rare of a mutation. Most of what is in the literature is older. This is a mutation that we have seen many times and would be considered a typical CF disease causing mutation.
Remember that outside of deltaF508 almost all mutations are rare. Given that, of all the rest of the rare mutations, this is not one that I would consider very rare and I believe we have seen it in a variety of ethnic backgrounds.
I hope that helps
Steve
I have a question: Can I find out from you if I have had an Ambry test run? I know I had a test run many, many years ago, but I don't know that it is in my records at the new adult clinic. All I was told at the time was that I had the "most common gene", but I don't know if that was 2 copies or what. If I can't find out through here, and I don't have that report available at the new clinic, I plan to have the test run to find out what I've got .
StevenKeiles
New member
AnD,
Send me your name and birthdate to my private email and I can let you know.
Kimber,
DeltaF508 is the most common mutation, 70%. About 50% of all patients with CF will have two copies of deltaF508, so obviously not unusual, but fairly usual.
There is research into a new drug that will help patients with certain types of mutations, but that would involve mutations that end in an X, like G542X.
Certainly DeltaF508 is the most studied mutation, but as of now it is still a matter of waiting for a cure or better treatments.
Steve
Send me your name and birthdate to my private email and I can let you know.
Kimber,
DeltaF508 is the most common mutation, 70%. About 50% of all patients with CF will have two copies of deltaF508, so obviously not unusual, but fairly usual.
There is research into a new drug that will help patients with certain types of mutations, but that would involve mutations that end in an X, like G542X.
Certainly DeltaF508 is the most studied mutation, but as of now it is still a matter of waiting for a cure or better treatments.
Steve
damiensmom
New member
Thank you mellissa yes from northern italy his dad is italian. Is it a stop mutation, a nonsense mutation, and is it also a class 1 mutation ?