2
2sickkids
Guest
I have checked and can't seem to find info on what types of cf gene or a % rate for native americans . Would you happen to know?
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Welcome Ambry Genetics
- Thread starter Buckeye
- Start date
M
momofcash
Guest
Steve...I just spoke with the nurse from Dr Imp's office and since my pediatrician and Dania are out of town I just wanted clarification. She said that Preston's test said he does have the R297Q and R74Q. It said nothing about the G542X. I just wanted to make sure that I was interpreting this correctly and that he is just a carrier. Thank you again.
Amy
Amy
StevenKeiles
New member
Amy,
That is correct.
2sickkids,
CF occurs in all populations. The numbers for native americans are not really known, but are just guestimates. I do know that deltaF508 is not a common mutation in that population. We have not really tested many, so our statistics would not be meaningful because of the small numbers. However we have identified mutation in Native Americans,
Steve
That is correct.
2sickkids,
CF occurs in all populations. The numbers for native americans are not really known, but are just guestimates. I do know that deltaF508 is not a common mutation in that population. We have not really tested many, so our statistics would not be meaningful because of the small numbers. However we have identified mutation in Native Americans,
Steve
M
momofcash
Guest
So much relief. Thank you.
Hi Steve, I am reposting this here (I originally posted under the Adults forum) to get your input on how to get a the full panel test done for my children.
I have CF myself and I have 2.5 year old twins. 7 years ago my husband was tested for the CF gene, 26 mutations I believe, and it came back negative. (he is british decent) I was satisfied with that and went ahead to pursue a family with him.
It wasn't until I got to this forum a couple months ago that I learned how many of you have received the Ambry full panel mutation blood test. My twins are not showing signs of CF, but you never know, right?
What is the best way to try and get the test covered by insurance? Do I have the pedi ask for it? Do I get a referral to my CF clinic and have them ask for the test? I don't want to pay for the test. I have an HMO in California (Pacificare) and the medical group is SIP (sutter independent physicians)
Anyone have experience with having your children tested? I am DDF508 myself.
Tara
I have CF myself and I have 2.5 year old twins. 7 years ago my husband was tested for the CF gene, 26 mutations I believe, and it came back negative. (he is british decent) I was satisfied with that and went ahead to pursue a family with him.
It wasn't until I got to this forum a couple months ago that I learned how many of you have received the Ambry full panel mutation blood test. My twins are not showing signs of CF, but you never know, right?
What is the best way to try and get the test covered by insurance? Do I have the pedi ask for it? Do I get a referral to my CF clinic and have them ask for the test? I don't want to pay for the test. I have an HMO in California (Pacificare) and the medical group is SIP (sutter independent physicians)
Anyone have experience with having your children tested? I am DDF508 myself.
Tara
H
hopesiris
Guest
Hi Steve,
My husband has one copy of DF508 and only had carrier testing. He is fertile and has no symptoms of CF at age 34. I have DF508 and T5/TG12 on the opposite chromosome and I have CF (it has been confirmed that I am symtomatic-lung involvement but pancreatic sufficient).
The baby I am carrying has one copy of DF508 but we did not know to test her for the T5/TG12 when the CVS was done. I had some concerns since my husband hasn't had the Ambry amplified and was advised by the CF clinic to just do the full panel on the baby at birth. If I'm healthy enough we may decide to have another pregnancy so we'd again have to do the Ambry full panel on that baby if this one has the T5 from me (leaving us with no confirmation that my husband doesn't have another mutation or variant).
What testing do you think makes sense considering that I may have another pregnancy?
Thanks,
Bonnie
My husband has one copy of DF508 and only had carrier testing. He is fertile and has no symptoms of CF at age 34. I have DF508 and T5/TG12 on the opposite chromosome and I have CF (it has been confirmed that I am symtomatic-lung involvement but pancreatic sufficient).
The baby I am carrying has one copy of DF508 but we did not know to test her for the T5/TG12 when the CVS was done. I had some concerns since my husband hasn't had the Ambry amplified and was advised by the CF clinic to just do the full panel on the baby at birth. If I'm healthy enough we may decide to have another pregnancy so we'd again have to do the Ambry full panel on that baby if this one has the T5 from me (leaving us with no confirmation that my husband doesn't have another mutation or variant).
What testing do you think makes sense considering that I may have another pregnancy?
Thanks,
Bonnie
StevenKeiles
New member
Tara,
Obviously both kids have at least one deltaF508 from you. If the kids are doing well, growing and have no health problems, there is probably no need to test them at this point. If either child develops any problems that could be a sign of CF you could always have them tested at that time and it would be likely to be covered by insurance at that time..
Bonnie,
It is most likely that your husband is only a carrier. If you husband did have another mutation, how would that change what you would do. Since he as no problems it is unlikely that he does. You are currently at a 25% chance to have a baby with CF homo deltaF508 and 25% chance to have a baby with the same type you have. either way you could have testing during pregnancy or after birth to know what the baby inherited. Same as above if the kids are doing well, I do not think that additional testing is necessary until symptoms arise if ever. The only testing you would really need is to test the baby for the deltaF508 and poly T.
If you tested your husband for more mutations, you would still have to end up testing the kids because of the chances for the other mutations.
Steve
Obviously both kids have at least one deltaF508 from you. If the kids are doing well, growing and have no health problems, there is probably no need to test them at this point. If either child develops any problems that could be a sign of CF you could always have them tested at that time and it would be likely to be covered by insurance at that time..
Bonnie,
It is most likely that your husband is only a carrier. If you husband did have another mutation, how would that change what you would do. Since he as no problems it is unlikely that he does. You are currently at a 25% chance to have a baby with CF homo deltaF508 and 25% chance to have a baby with the same type you have. either way you could have testing during pregnancy or after birth to know what the baby inherited. Same as above if the kids are doing well, I do not think that additional testing is necessary until symptoms arise if ever. The only testing you would really need is to test the baby for the deltaF508 and poly T.
If you tested your husband for more mutations, you would still have to end up testing the kids because of the chances for the other mutations.
Steve
I accidentally started a new thread, when I meant to post this here....sorry if some read it twice...I really would like Ambry genetics to give their thoughts on this, but any other advice anyone has would be great!! I am so stressed out!
Hello there. My son, Isaac, had testing done through your company a month or two ago. My doctor said he was tested for 16 or 17 mutations, I think...and they all came back negative. I'm confused because I am reading that you test for up to 100, now why would my doctor request to check for so few? My son has failed to sweat for the sweat test 4 times, and I don't know where to turn next to find out if he has CF or not. He doesn't seem to have chronic lung problems, he coughs a lot, but nothing serious. He has had chronic diarrhea all his life though. His doctor keeps saying we need to rule out CF, even after the Ambry testing came back Negative. A week ago, Isaac's GI doc perscribed Creon, and it seems to be helping a lot...should this worry me? Does the fact that the meds are working point to a CF diagnosis a little more? Any help or advice you could give me would be greatly appreciated. Thank you!
Hello there. My son, Isaac, had testing done through your company a month or two ago. My doctor said he was tested for 16 or 17 mutations, I think...and they all came back negative. I'm confused because I am reading that you test for up to 100, now why would my doctor request to check for so few? My son has failed to sweat for the sweat test 4 times, and I don't know where to turn next to find out if he has CF or not. He doesn't seem to have chronic lung problems, he coughs a lot, but nothing serious. He has had chronic diarrhea all his life though. His doctor keeps saying we need to rule out CF, even after the Ambry testing came back Negative. A week ago, Isaac's GI doc perscribed Creon, and it seems to be helping a lot...should this worry me? Does the fact that the meds are working point to a CF diagnosis a little more? Any help or advice you could give me would be greatly appreciated. Thank you!
StevenKeiles
New member
Jennifer,
At Ambry we always look at the entire CF gene so we would detect over 1500 mutations. I am not sure where the 16 or 17 comes from. As far as the other medical questions, those are really best for your doctors. Remember that CF is not just based on one test or one finding, you have to look at the whole picture.
good luck,
Steve
At Ambry we always look at the entire CF gene so we would detect over 1500 mutations. I am not sure where the 16 or 17 comes from. As far as the other medical questions, those are really best for your doctors. Remember that CF is not just based on one test or one finding, you have to look at the whole picture.
good luck,
Steve
blondelawyer
New member
Steve,
According to the CF nurse coordinator my husband's genetic test was done in 1997 (test was Genzyme) and it only showed 1 mutation (df508). Considering it was so long ago I wonder if the Ambry Amplified test would be able to detect the second mutuation. Do you know if this is something insurance would typically cover?
Thanks!
Lisa
According to the CF nurse coordinator my husband's genetic test was done in 1997 (test was Genzyme) and it only showed 1 mutation (df508). Considering it was so long ago I wonder if the Ambry Amplified test would be able to detect the second mutuation. Do you know if this is something insurance would typically cover?
Thanks!
Lisa
StevenKeiles
New member
Lisa,
If someone has CF, we would detect 2 mutations 99% of the time with our CF Amplified test. And yes it is usually covered by insurance.
Steve
If someone has CF, we would detect 2 mutations 99% of the time with our CF Amplified test. And yes it is usually covered by insurance.
Steve
blondelawyer
New member
Thanks Steve. My husband definitely has CF. He is going to talk to his doc on Monday about getting retested.
Lisa
Lisa
Hi Steve,
I was wondering if you could help me. My daughter is now 2 wcf and her mutations are 621 + 1G>T and c.1080delT, I have found information on her first mutation and can't find anything on her second (c.1080delT). I would be really greatful if you could find out any information on this gene.
Thank you in advance and looking forward for your reply,
JJBSA.
I was wondering if you could help me. My daughter is now 2 wcf and her mutations are 621 + 1G>T and c.1080delT, I have found information on her first mutation and can't find anything on her second (c.1080delT). I would be really greatful if you could find out any information on this gene.
Thank you in advance and looking forward for your reply,
JJBSA.
StevenKeiles
New member
JJBSA,
I have not seen nor heard of the mutation 1080delT. There is a rare mutation that is known at 1078delT. I would have them check to see if they made a mistake in calling the mutation. However, either way they are both rare but would result in a typical CF mutation.
Steve
I have not seen nor heard of the mutation 1080delT. There is a rare mutation that is known at 1078delT. I would have them check to see if they made a mistake in calling the mutation. However, either way they are both rare but would result in a typical CF mutation.
Steve
Hi Steve,
Thank you for your reply,
When we received the details confirming my Daughters mutations, they did put 1080delT (historic name 1078delT), I was very confused with this and just thought her gene was 1080delT, how strange, why would they change the name of her gene? just wondered if you had any ideas? I live in the UK and have been trying to find out more information since my Daughter was dx October 2005.
My Daughter does show typical signs of CF and was very poorly when diagnosed at 5 months old. She still suffers mainly from her digestive system and severe reflux. When dx her sweat test was very high (can't remember result).
Thanks again, if you have any ideas, why they would of changed her gene name, I would be very interested.
JJBSA
Thank you for your reply,
When we received the details confirming my Daughters mutations, they did put 1080delT (historic name 1078delT), I was very confused with this and just thought her gene was 1080delT, how strange, why would they change the name of her gene? just wondered if you had any ideas? I live in the UK and have been trying to find out more information since my Daughter was dx October 2005.
My Daughter does show typical signs of CF and was very poorly when diagnosed at 5 months old. She still suffers mainly from her digestive system and severe reflux. When dx her sweat test was very high (can't remember result).
Thanks again, if you have any ideas, why they would of changed her gene name, I would be very interested.
JJBSA
Have you ever heard of someone having 3 mutations? I work at a children's hospital, and I have a child with CF. One of the parents at my hospital whose child has CF showed me her Ambry results and there were 3 genes listed: DF508, S-something and I-something. She told me our CF director had never even heard of the S- mutation. I've just never heard of someone having 3 mutations. Can you enlighten me?
StevenKeiles
New member
JJBSA,
there is now standard nomenclature for naming mutations. however, that was not always the case so there are many mutations and genes that have multiple names depending on who first described them.
Maureen,
It is not that unusual to have more than 2 mutations, we have seen that many times. There are several mutations that can be linked together on the same chromosome. Therefore just because someone has two mutations does not mean they would definitely have CF because the mutations have to be on opposite chromosomes. When someone has 3 mutations, typically 2 are on 1 chromosome and 1 is on the other. Sometimes you can have 3 mutations on the same chromsome as well.
Steve
there is now standard nomenclature for naming mutations. however, that was not always the case so there are many mutations and genes that have multiple names depending on who first described them.
Maureen,
It is not that unusual to have more than 2 mutations, we have seen that many times. There are several mutations that can be linked together on the same chromosome. Therefore just because someone has two mutations does not mean they would definitely have CF because the mutations have to be on opposite chromosomes. When someone has 3 mutations, typically 2 are on 1 chromosome and 1 is on the other. Sometimes you can have 3 mutations on the same chromsome as well.
Steve
Hi,
I got my test results back for the 12 mutations tested and all were negative. Those checked were as follows, based on the fact that I am an Ashkenazi Jew ...
1717+1G->A
3849
D1152H
G542X
N1303K
W1282X
delF508
405+1G->A
G85E
S549R
W1089X
5T
Does it make sense to insist on the Ambry test?
In a previous post I described my situation ...
I am in my 40s and have had pneumonia 5 times. The last time was 3 years ago, and it knocked me out for several months and I even broke a rib from the coughing. Ever since then I have had problems with chronic sinusitis, shortness of breath, chest pain, and in general feel horrible most of the time. I cough but don't usually bring up phlegm, except when I have an acute illness - bronchitis or sinusitis. I am and have alway been extremely thin, but have never had any digestive problems.
My doctors (including a leading pulmonologies where I live) have tested me for zillions of things but have found nothing except bronchiectasis and chronic sinusitis. Nebulizer treatments and 7 months of antibiotics didn't resolve the situation. Out of frustration I stopped taking all meds for 6 months and my FEV1 dropped from 89% to 78%. Now I am on seretide (diskus) and flixonase and have gotten the FEV1 up to 85%. I walk 3 or 4 times a week for more than an hour except for the times when I feel too terrible to move. My hope is that whatever I have this is helping.
A couple of weeks ago a friend of mine who is a pediatrician saw me with shortness of breath so bad that I could hardly talk, and insisted that I get someone to test me for CF. I had the sweat test (conductivity test actually) and got a result of 36, which I was told is normal.
Thanks for all your help!
I got my test results back for the 12 mutations tested and all were negative. Those checked were as follows, based on the fact that I am an Ashkenazi Jew ...
1717+1G->A
3849
D1152H
G542X
N1303K
W1282X
delF508
405+1G->A
G85E
S549R
W1089X
5T
Does it make sense to insist on the Ambry test?
In a previous post I described my situation ...
I am in my 40s and have had pneumonia 5 times. The last time was 3 years ago, and it knocked me out for several months and I even broke a rib from the coughing. Ever since then I have had problems with chronic sinusitis, shortness of breath, chest pain, and in general feel horrible most of the time. I cough but don't usually bring up phlegm, except when I have an acute illness - bronchitis or sinusitis. I am and have alway been extremely thin, but have never had any digestive problems.
My doctors (including a leading pulmonologies where I live) have tested me for zillions of things but have found nothing except bronchiectasis and chronic sinusitis. Nebulizer treatments and 7 months of antibiotics didn't resolve the situation. Out of frustration I stopped taking all meds for 6 months and my FEV1 dropped from 89% to 78%. Now I am on seretide (diskus) and flixonase and have gotten the FEV1 up to 85%. I walk 3 or 4 times a week for more than an hour except for the times when I feel too terrible to move. My hope is that whatever I have this is helping.
A couple of weeks ago a friend of mine who is a pediatrician saw me with shortness of breath so bad that I could hardly talk, and insisted that I get someone to test me for CF. I had the sweat test (conductivity test actually) and got a result of 36, which I was told is normal.
Thanks for all your help!
StevenKeiles
New member
Nervous,
Yes it would make sense to get a more comprehensive test, especially with a sweat test of 36, even though it is normal, it is high normal and many CF centers would consider 36 a significant finding.
the mutations you were tested for would cause more typical CF, you don't have that you may have an atypical form of CF which is usually the result of different mutations. I dont think there is any benefit to having a larger panel since the yield is not very different than the 12 you had. If you are going to do more testing you need to look at the whole gene.
Good luck,
steve
Yes it would make sense to get a more comprehensive test, especially with a sweat test of 36, even though it is normal, it is high normal and many CF centers would consider 36 a significant finding.
the mutations you were tested for would cause more typical CF, you don't have that you may have an atypical form of CF which is usually the result of different mutations. I dont think there is any benefit to having a larger panel since the yield is not very different than the 12 you had. If you are going to do more testing you need to look at the whole gene.
Good luck,
steve
larasmommy
New member
Hi Steve,
My 5 year old daughter was just diagnosed with A-typical CF (quest entire gene sequence, my ins. did not deal with Ambry) I know you work for Ambry and was wondering if I could pick your brain a little? (you are SO great with your answers!)
Ive been to the cf center already, but did not see a genetic counselor and have a few questions. My daughters mutation is 621+1G>T, her variant R75Q; They do not know if they are located on the same or different chromosones. It also says , Status at the intron 8 polymorphism is 7T/9T and the TG staus is 10TG/11TG. Then there is also another part that reads, the patient is also positive for a polymorphism M470V on exon 10, but that it has no clinical signifigance.
The dr said that my husband and I have to go get tested, and it will tell us more. I already know that mutations and variants differ from case to case, and dont always act the same in all patients but was wondering if you can give me a simplified explanation, as to what I should ask for as far as our geno tests r concerned and also my other daughters (they r from my 1st marrige) and also my sis in law is pregnant, and I have a male 1st cousin who is sterile! and had to go through special invitro to be become pregnant, just wondering how they should go about asking for there tests, or should they not test at all before mine and hubbys come back?????. My daughter issues seem to be with her lungs only, because she gains weight and grows at a normal rate, she gets alot of headaches and stomach aches, sinus infections, pnum's. I am waiting for all of tests to come back, blood work , sputnum, stool ect. Thanks in advance Steve.
Marie
My 5 year old daughter was just diagnosed with A-typical CF (quest entire gene sequence, my ins. did not deal with Ambry) I know you work for Ambry and was wondering if I could pick your brain a little? (you are SO great with your answers!)
Ive been to the cf center already, but did not see a genetic counselor and have a few questions. My daughters mutation is 621+1G>T, her variant R75Q; They do not know if they are located on the same or different chromosones. It also says , Status at the intron 8 polymorphism is 7T/9T and the TG staus is 10TG/11TG. Then there is also another part that reads, the patient is also positive for a polymorphism M470V on exon 10, but that it has no clinical signifigance.
The dr said that my husband and I have to go get tested, and it will tell us more. I already know that mutations and variants differ from case to case, and dont always act the same in all patients but was wondering if you can give me a simplified explanation, as to what I should ask for as far as our geno tests r concerned and also my other daughters (they r from my 1st marrige) and also my sis in law is pregnant, and I have a male 1st cousin who is sterile! and had to go through special invitro to be become pregnant, just wondering how they should go about asking for there tests, or should they not test at all before mine and hubbys come back?????. My daughter issues seem to be with her lungs only, because she gains weight and grows at a normal rate, she gets alot of headaches and stomach aches, sinus infections, pnum's. I am waiting for all of tests to come back, blood work , sputnum, stool ect. Thanks in advance Steve.
Marie