StevenKeiles
New member
Thank you very much Melissa,
Steve
Steve
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Welcome Ambry Genetics
- Thread starter Buckeye
- Start date
Childressj
New member
Steve
Yes, Jordan from Alabama 13 year old is mine. Can you tell me if a full genectic panel was done or what? I have been told by many people on this website that I should ask you about this. Thanks!
Yes, Jordan from Alabama 13 year old is mine. Can you tell me if a full genectic panel was done or what? I have been told by many people on this website that I should ask you about this. Thanks!
StevenKeiles
New member
At Ambry Genetics, we perform a comprehensive analysis on all patients we do not perform a panel. Therefore our full gene test can detect 97% of all mutations and our CF Amplified test also adds deletion testing which increases the detection rate to 99%. Jordan is having a full gene analysis. We can always add deletion testing if necessary after his results are completed.
Steve
Steve
Childressj
New member
YEAH! you have made my whole day! Thanks so much Steve for getting back with me. This makes me feel better knowing that this test will be almost definitive. Thanks again!
Hi Steve,
I am trying to push my docs for the Ambry test on my kids. They don't really seem familiar with it. They think I am referring to the basic CF screening test. How do I "educate" them and what information do I give them to get them going in the right direction?
Thanks,
Edna
I am trying to push my docs for the Ambry test on my kids. They don't really seem familiar with it. They think I am referring to the basic CF screening test. How do I "educate" them and what information do I give them to get them going in the right direction?
Thanks,
Edna
Hi Steve,
I just wanted to thank you for all of your help. I went to the genetic counselor this past week and showed him the information you provided me. He immediately called Ambry and my blood was sent to be tested in order to determine the TG number for my 5T. Lets hope for 10! I am<u> somewhat</u> confident that with a TG number of 10, PGD would not be the right course (recalling my husband has 508/N1303K). However, I am concerned if it is any higher, I will be questioning PGD again.
Anyway, thanks so much for all of your help
I just wanted to thank you for all of your help. I went to the genetic counselor this past week and showed him the information you provided me. He immediately called Ambry and my blood was sent to be tested in order to determine the TG number for my 5T. Lets hope for 10! I am<u> somewhat</u> confident that with a TG number of 10, PGD would not be the right course (recalling my husband has 508/N1303K). However, I am concerned if it is any higher, I will be questioning PGD again.
Anyway, thanks so much for all of your help
StevenKeiles
New member
Edna,
You can print information from our website. If you go to the website and look under Ambry Resources you can find several informational pieces about our CF test. Feel free to contact our client services dept. if you have any other questions we can help with.
LRL,
FYI, 10 or 11 repeats fall into the milder category. 12 or 13 would be more significant.
Steve
You can print information from our website. If you go to the website and look under Ambry Resources you can find several informational pieces about our CF test. Feel free to contact our client services dept. if you have any other questions we can help with.
LRL,
FYI, 10 or 11 repeats fall into the milder category. 12 or 13 would be more significant.
Steve
Childressj
New member
Steven
This is Jordan (13) from Alabama's mom. Well today marks 2 weeks since the blood was sent to Ambry. When should I start "bugging" my docs for the results? I am sorry, but this waiting is killing me. Thanks for any responses. JC
This is Jordan (13) from Alabama's mom. Well today marks 2 weeks since the blood was sent to Ambry. When should I start "bugging" my docs for the results? I am sorry, but this waiting is killing me. Thanks for any responses. JC
Hi Steve,
Thank you for your response. When you say that 10 or 11 is "milder", what exactly do you mean? Can you elaborate when you say "milder" or "more signficant"? I was told 5T and a CF gene does not make CF, but may cause symptoms like sinus problems or at times male infertility. Would this be considered mild/signficant?
Thank you once again
Thank you for your response. When you say that 10 or 11 is "milder", what exactly do you mean? Can you elaborate when you say "milder" or "more signficant"? I was told 5T and a CF gene does not make CF, but may cause symptoms like sinus problems or at times male infertility. Would this be considered mild/signficant?
Thank you once again
StevenKeiles
New member
Jennifer,
Most results take about 3 weeks, some less, some a little more. I know the waiting is hard, but there really is no alternative.
Edna,
Thanks for the nice words.
LRL,
Many people with a mutation and a 5T will have no symptoms, some will have mild symptoms like you describe and some will have more symptoms similar to a moderately affected CF patient.
There is no way to predict exactly how the combination will affect any one person. However, on the average, when you have more TG repeats with a 5T you will have more symptoms. People who have 10 or 11 repeats are more likely to fall into the no symptoms or very mild symptoms group. Those with 12 or 13 repeats are more likely to fall in the mild to moderate symptom group.
This does not mean tha 10 or 11 could not be more severe and 12 or 13 more mild, but looking at a large number of patients, the majority would follow the above description.
I hope that clears it up.
Steve
Most results take about 3 weeks, some less, some a little more. I know the waiting is hard, but there really is no alternative.
Edna,
Thanks for the nice words.
LRL,
Many people with a mutation and a 5T will have no symptoms, some will have mild symptoms like you describe and some will have more symptoms similar to a moderately affected CF patient.
There is no way to predict exactly how the combination will affect any one person. However, on the average, when you have more TG repeats with a 5T you will have more symptoms. People who have 10 or 11 repeats are more likely to fall into the no symptoms or very mild symptoms group. Those with 12 or 13 repeats are more likely to fall in the mild to moderate symptom group.
This does not mean tha 10 or 11 could not be more severe and 12 or 13 more mild, but looking at a large number of patients, the majority would follow the above description.
I hope that clears it up.
Steve
Steve,
Hi, my name is Jada Ose. This is a bit of a complicated story. Zoe, is my almost 3 year old daughter, she has DF508 &17171 GA. She had failure to thrive, horrible stools, mucus, etc...finally diagnosed the eve of her 1st b-day.
She has one ful sibling, age 5, had her sweat test done, 21.
Zoe also has 5 half siblings, that all live with us, from my previous marriage. We had all the children's dna tested last week, for comfort of mind.
Much to my complete astonishment, my ex-husband, also is a cf carrier. What are the odds of that? Unbelievable is what the odds are that you would marry 2 people in you lifetime that are both cf carriers.
2 of my boys, ages 15 & 11, showed both my mutation (DF508) and my ex's (R117H). Negative 5T. Both are on the 7T/9T.
So we had their sweat test done yesterday. From most of the research I have done, it looked like they would probably pass the sweat test with no problem, if they were going to have the "atypical" cf that comes with the R117H.
Well, they didn't. They both came back with right in the middle borderline. Both tested at 52 for their sweat test.
What is confusing me is...the docs are saying, they aren't going to say they have cf yet. They want to do their pft's, lung x-rays, etc... first.
I am a very proactive parent in treatment for our daughter, Zoe. I believe in preventitive treatment 150%.
I don't want my boys to be incorrectly undiagnosed, then have a severe lung infection at a later age, all because I didn't do preventitive care.
Any input you can give me on a situation like this would be great.
I do not like being in the "grey" area as the doctors are telling me.
I want the best for my children.
Thanks,
Jada Ose
Hi, my name is Jada Ose. This is a bit of a complicated story. Zoe, is my almost 3 year old daughter, she has DF508 &17171 GA. She had failure to thrive, horrible stools, mucus, etc...finally diagnosed the eve of her 1st b-day.
She has one ful sibling, age 5, had her sweat test done, 21.
Zoe also has 5 half siblings, that all live with us, from my previous marriage. We had all the children's dna tested last week, for comfort of mind.
Much to my complete astonishment, my ex-husband, also is a cf carrier. What are the odds of that? Unbelievable is what the odds are that you would marry 2 people in you lifetime that are both cf carriers.
2 of my boys, ages 15 & 11, showed both my mutation (DF508) and my ex's (R117H). Negative 5T. Both are on the 7T/9T.
So we had their sweat test done yesterday. From most of the research I have done, it looked like they would probably pass the sweat test with no problem, if they were going to have the "atypical" cf that comes with the R117H.
Well, they didn't. They both came back with right in the middle borderline. Both tested at 52 for their sweat test.
What is confusing me is...the docs are saying, they aren't going to say they have cf yet. They want to do their pft's, lung x-rays, etc... first.
I am a very proactive parent in treatment for our daughter, Zoe. I believe in preventitive treatment 150%.
I don't want my boys to be incorrectly undiagnosed, then have a severe lung infection at a later age, all because I didn't do preventitive care.
Any input you can give me on a situation like this would be great.
I do not like being in the "grey" area as the doctors are telling me.
I want the best for my children.
Thanks,
Jada Ose
StevenKeiles
New member
Jada,
It is not really my place to determine the best course of medical treatment, that is something your doctors are the best ones to assess your children's care.
If you are at a CF center or with physicians you feel comfortable with I am sure they will steer you in the right direction.
One thing I can tell you is that there are many people who have both the deltaF508 and R117H who may never develop any problems. I think it is important to know they have these mutations and certainly if any health problems develop they should be followed up on.
I hope that helps,
Steve
It is not really my place to determine the best course of medical treatment, that is something your doctors are the best ones to assess your children's care.
If you are at a CF center or with physicians you feel comfortable with I am sure they will steer you in the right direction.
One thing I can tell you is that there are many people who have both the deltaF508 and R117H who may never develop any problems. I think it is important to know they have these mutations and certainly if any health problems develop they should be followed up on.
I hope that helps,
Steve
Childressj
New member
<begin quote><i>Originally posted by: <b>Childressj</b></i>
Steven
This is Jordan (13) from Alabama's mom. Well today marks 2 weeks since the blood was sent to Ambry. When should I start "bugging" my docs for the results? I am sorry, but this waiting is killing me. Thanks for any responses. JC</end quote>
Hey there again, Well the nurse called from the pulmonoligist office and said that they recieved the results (she is faxing them to me) and that Jordan has the Delta f508 and that he is a carrier. I asked about that deletion test and she called Ambry back and theya re getting some change form filled out by the Dr. and then they will be doing that test. What does all that mean? He had the the Full gene testing not the amplified , will he get that one too? Thank you Steven, your help is really appreciated. JC
Steven
This is Jordan (13) from Alabama's mom. Well today marks 2 weeks since the blood was sent to Ambry. When should I start "bugging" my docs for the results? I am sorry, but this waiting is killing me. Thanks for any responses. JC</end quote>
Hey there again, Well the nurse called from the pulmonoligist office and said that they recieved the results (she is faxing them to me) and that Jordan has the Delta f508 and that he is a carrier. I asked about that deletion test and she called Ambry back and theya re getting some change form filled out by the Dr. and then they will be doing that test. What does all that mean? He had the the Full gene testing not the amplified , will he get that one too? Thank you Steven, your help is really appreciated. JC
StevenKeiles
New member
Jennifer,
Yes, they ordered the full gene but not the amplified. You can have them fax a request to add the deletion test and we can run that to check for deletions. That will increase the detection rate from 97% to 99%.
Steve
Yes, they ordered the full gene but not the amplified. You can have them fax a request to add the deletion test and we can run that to check for deletions. That will increase the detection rate from 97% to 99%.
Steve
Childressj
New member
The Pulm office called a Rachel at Ambry and she said that Dr. Mahesh would need to sign a change form and fax it back and that they would preform the test. My question is will Ambry have enough blood or am I going to need to bring my son back in to do that again? Oh and thanks steve.
StevenKeiles
New member
Jennifer,
We should have enough to run it from what we have. If there is an issue we will call the doctors office, but it should be fine.
The results should be done by next week the latest.
Steve
We should have enough to run it from what we have. If there is an issue we will call the doctors office, but it should be fine.
The results should be done by next week the latest.
Steve
Childressj
New member
Thanks Steve!!!!!
littlemisskris16
New member
Hello.
I am new to this site, not new to CF. I have CF/rD, DDF508 dx @ 6months. I would say my disease is mild-moderate, getting older, I have seen a progression.
My Fiance and I are getting married in 2008. We went for our genetic counseling appt in feb and we recently got our results back. It turns out my Fiance is an A-typical carrier.
When our counsler told us the results, I only heard + carrier, and some other things he said. I was wondering, if anyone can explain to me, what this means for us, our child one day and the %. Will our child have CF?
We do have a follow up appt. but I wanted to ask here first, so I can understand it a little better.
Thanks in Advance
Kris
30 yr old Ny'er with CF/rD
I am new to this site, not new to CF. I have CF/rD, DDF508 dx @ 6months. I would say my disease is mild-moderate, getting older, I have seen a progression.
My Fiance and I are getting married in 2008. We went for our genetic counseling appt in feb and we recently got our results back. It turns out my Fiance is an A-typical carrier.
When our counsler told us the results, I only heard + carrier, and some other things he said. I was wondering, if anyone can explain to me, what this means for us, our child one day and the %. Will our child have CF?
We do have a follow up appt. but I wanted to ask here first, so I can understand it a little better.
Thanks in Advance
Kris
30 yr old Ny'er with CF/rD