CF mutation question

M

momoffive

New member
How many of you, or your children *or grandchildren* have CF mutations within the panel of 40? My doctor only ordered this panel for my son today and I am furious as the GI told me it would be the full ambry - but he was allready having blood drawn for other tests so I just did it anyways. I was curious how many ppl have mutations in that panel - I really hope we didn't just waste time and money!

Also, does anyone know how long it will take for that to come back? It was sent to Mayo clinic? Thanks so much!!!
 
M

momoffive

New member
How many of you, or your children *or grandchildren* have CF mutations within the panel of 40? My doctor only ordered this panel for my son today and I am furious as the GI told me it would be the full ambry - but he was allready having blood drawn for other tests so I just did it anyways. I was curious how many ppl have mutations in that panel - I really hope we didn't just waste time and money!

Also, does anyone know how long it will take for that to come back? It was sent to Mayo clinic? Thanks so much!!!
 
M

momoffive

New member
How many of you, or your children *or grandchildren* have CF mutations within the panel of 40? My doctor only ordered this panel for my son today and I am furious as the GI told me it would be the full ambry - but he was allready having blood drawn for other tests so I just did it anyways. I was curious how many ppl have mutations in that panel - I really hope we didn't just waste time and money!

Also, does anyone know how long it will take for that to come back? It was sent to Mayo clinic? Thanks so much!!!
 
M

momoffive

New member
How many of you, or your children *or grandchildren* have CF mutations within the panel of 40? My doctor only ordered this panel for my son today and I am furious as the GI told me it would be the full ambry - but he was allready having blood drawn for other tests so I just did it anyways. I was curious how many ppl have mutations in that panel - I really hope we didn't just waste time and money!

Also, does anyone know how long it will take for that to come back? It was sent to Mayo clinic? Thanks so much!!!
 
M

momoffive

New member
How many of you, or your children *or grandchildren* have CF mutations within the panel of 40? My doctor only ordered this panel for my son today and I am furious as the GI told me it would be the full ambry - but he was allready having blood drawn for other tests so I just did it anyways. I was curious how many ppl have mutations in that panel - I really hope we didn't just waste time and money!

Also, does anyone know how long it will take for that to come back? It was sent to Mayo clinic? Thanks so much!!!
 
A

Alyssa

New member
I think it's usually around 6 weeks. It's my own personal opinion that anything less than a full panel is a big waste of time -- what good does it do to look for 40, when there are well over 1,500 !! They will be missing almost all of them!!!

Post on the Welcome to Ambry Genetics post at the top of the page and ask Steve if it is possible to get it changed to a full panel without doing another blood draw -- if it is, you could be fighting the battle for a full panel before they are completely done with the 40 screening.

And to answer your question about finding genes in the 40 - ask that to Steve on the Ambry post as well, because it is my understanding most of the lower number screenings are not specific genes....it's somehow random if I understood him correctly on another post a while back -- like there is not set 40 most common genes -- your child's 40 gene test will not be the same as someone else's 40 genes tests -- they are not looking for the same 40 genes.
 
A

Alyssa

New member
I think it's usually around 6 weeks. It's my own personal opinion that anything less than a full panel is a big waste of time -- what good does it do to look for 40, when there are well over 1,500 !! They will be missing almost all of them!!!

Post on the Welcome to Ambry Genetics post at the top of the page and ask Steve if it is possible to get it changed to a full panel without doing another blood draw -- if it is, you could be fighting the battle for a full panel before they are completely done with the 40 screening.

And to answer your question about finding genes in the 40 - ask that to Steve on the Ambry post as well, because it is my understanding most of the lower number screenings are not specific genes....it's somehow random if I understood him correctly on another post a while back -- like there is not set 40 most common genes -- your child's 40 gene test will not be the same as someone else's 40 genes tests -- they are not looking for the same 40 genes.
 
A

Alyssa

New member
I think it's usually around 6 weeks. It's my own personal opinion that anything less than a full panel is a big waste of time -- what good does it do to look for 40, when there are well over 1,500 !! They will be missing almost all of them!!!

Post on the Welcome to Ambry Genetics post at the top of the page and ask Steve if it is possible to get it changed to a full panel without doing another blood draw -- if it is, you could be fighting the battle for a full panel before they are completely done with the 40 screening.

And to answer your question about finding genes in the 40 - ask that to Steve on the Ambry post as well, because it is my understanding most of the lower number screenings are not specific genes....it's somehow random if I understood him correctly on another post a while back -- like there is not set 40 most common genes -- your child's 40 gene test will not be the same as someone else's 40 genes tests -- they are not looking for the same 40 genes.
 
A

Alyssa

New member
I think it's usually around 6 weeks. It's my own personal opinion that anything less than a full panel is a big waste of time -- what good does it do to look for 40, when there are well over 1,500 !! They will be missing almost all of them!!!

Post on the Welcome to Ambry Genetics post at the top of the page and ask Steve if it is possible to get it changed to a full panel without doing another blood draw -- if it is, you could be fighting the battle for a full panel before they are completely done with the 40 screening.

And to answer your question about finding genes in the 40 - ask that to Steve on the Ambry post as well, because it is my understanding most of the lower number screenings are not specific genes....it's somehow random if I understood him correctly on another post a while back -- like there is not set 40 most common genes -- your child's 40 gene test will not be the same as someone else's 40 genes tests -- they are not looking for the same 40 genes.
 
A

Alyssa

New member
I think it's usually around 6 weeks. It's my own personal opinion that anything less than a full panel is a big waste of time -- what good does it do to look for 40, when there are well over 1,500 !! They will be missing almost all of them!!!

Post on the Welcome to Ambry Genetics post at the top of the page and ask Steve if it is possible to get it changed to a full panel without doing another blood draw -- if it is, you could be fighting the battle for a full panel before they are completely done with the 40 screening.

And to answer your question about finding genes in the 40 - ask that to Steve on the Ambry post as well, because it is my understanding most of the lower number screenings are not specific genes....it's somehow random if I understood him correctly on another post a while back -- like there is not set 40 most common genes -- your child's 40 gene test will not be the same as someone else's 40 genes tests -- they are not looking for the same 40 genes.
 
B

blondelawyer

New member
My husband had his test run about 10 years ago and so they didn't look for many genes and only 1 of his showed up (and he definitely has CF). When I had my carrier test they only ran for 6 mutations (this was also 10 years ago) and Steve from Ambry said that there is about a 1% chance that I could still be a carrier and the test didn't pick it up. So...I think that the 40 that was run should pick up most, but if you get negative results, push for the Ambry. The Ambry test is really expensive so I think that doctors like to run the other test first to see the results and go to full panel if necessary. Anyway, like Alyssa said, Steve from Ambry is a great resource, so talk to him.

Good luck!
 
B

blondelawyer

New member
My husband had his test run about 10 years ago and so they didn't look for many genes and only 1 of his showed up (and he definitely has CF). When I had my carrier test they only ran for 6 mutations (this was also 10 years ago) and Steve from Ambry said that there is about a 1% chance that I could still be a carrier and the test didn't pick it up. So...I think that the 40 that was run should pick up most, but if you get negative results, push for the Ambry. The Ambry test is really expensive so I think that doctors like to run the other test first to see the results and go to full panel if necessary. Anyway, like Alyssa said, Steve from Ambry is a great resource, so talk to him.

Good luck!
 
B

blondelawyer

New member
My husband had his test run about 10 years ago and so they didn't look for many genes and only 1 of his showed up (and he definitely has CF). When I had my carrier test they only ran for 6 mutations (this was also 10 years ago) and Steve from Ambry said that there is about a 1% chance that I could still be a carrier and the test didn't pick it up. So...I think that the 40 that was run should pick up most, but if you get negative results, push for the Ambry. The Ambry test is really expensive so I think that doctors like to run the other test first to see the results and go to full panel if necessary. Anyway, like Alyssa said, Steve from Ambry is a great resource, so talk to him.

Good luck!
 
B

blondelawyer

New member
My husband had his test run about 10 years ago and so they didn't look for many genes and only 1 of his showed up (and he definitely has CF). When I had my carrier test they only ran for 6 mutations (this was also 10 years ago) and Steve from Ambry said that there is about a 1% chance that I could still be a carrier and the test didn't pick it up. So...I think that the 40 that was run should pick up most, but if you get negative results, push for the Ambry. The Ambry test is really expensive so I think that doctors like to run the other test first to see the results and go to full panel if necessary. Anyway, like Alyssa said, Steve from Ambry is a great resource, so talk to him.

Good luck!
 
B

blondelawyer

New member
My husband had his test run about 10 years ago and so they didn't look for many genes and only 1 of his showed up (and he definitely has CF). When I had my carrier test they only ran for 6 mutations (this was also 10 years ago) and Steve from Ambry said that there is about a 1% chance that I could still be a carrier and the test didn't pick it up. So...I think that the 40 that was run should pick up most, but if you get negative results, push for the Ambry. The Ambry test is really expensive so I think that doctors like to run the other test first to see the results and go to full panel if necessary. Anyway, like Alyssa said, Steve from Ambry is a great resource, so talk to him.

Good luck!
 
R

Ratatosk

Administrator
Staff member
DS' was sent to Mayo and his mutation is one of the most common -- two copies of delta f508. The bloodwork was taken on Sunday evening and by Thursday afternoon we got the results back. They'd told us it would probably take 7 days.
 
R

Ratatosk

Administrator
Staff member
DS' was sent to Mayo and his mutation is one of the most common -- two copies of delta f508. The bloodwork was taken on Sunday evening and by Thursday afternoon we got the results back. They'd told us it would probably take 7 days.
 
R

Ratatosk

Administrator
Staff member
DS' was sent to Mayo and his mutation is one of the most common -- two copies of delta f508. The bloodwork was taken on Sunday evening and by Thursday afternoon we got the results back. They'd told us it would probably take 7 days.
 
R

Ratatosk

Administrator
Staff member
DS' was sent to Mayo and his mutation is one of the most common -- two copies of delta f508. The bloodwork was taken on Sunday evening and by Thursday afternoon we got the results back. They'd told us it would probably take 7 days.
 
R

Ratatosk

Administrator
Staff member
DS' was sent to Mayo and his mutation is one of the most common -- two copies of delta f508. The bloodwork was taken on Sunday evening and by Thursday afternoon we got the results back. They'd told us it would probably take 7 days.
 
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