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Welcome Ambry Genetics
- Thread starter Buckeye
- Start date
L
Lety
Guest
Steve,
My daughter has two copies of Delta F508 and I am being tested for CF through Lab Corp of America and I was told that they would send it to Ambry to do the test. Since we know that I have one DF508, how long should it take to test for the other gene?
My daughter has two copies of Delta F508 and I am being tested for CF through Lab Corp of America and I was told that they would send it to Ambry to do the test. Since we know that I have one DF508, how long should it take to test for the other gene?
V
valigirl21
Guest
Steve,
Can you break down for me in the simplest terms posible how a CF genetics test works. My GI doc is on my last nerve. He is a know-it-all who knows nothing, but he insists that only 1 test should be needed to varify or dismiss a dx of CF. I think he is under the impression that the gene is sequenced and any mutation is searched for. If one is foun, VIOLA, dx. If none is then the search is over; no CF. I will be passingthis info on to him at our next appointment. I'd like to add that this man is a total tool, and seriously ha s question your knowledge, as well as that of the CF specialist in my area. Looking forward to your reply.
Can you break down for me in the simplest terms posible how a CF genetics test works. My GI doc is on my last nerve. He is a know-it-all who knows nothing, but he insists that only 1 test should be needed to varify or dismiss a dx of CF. I think he is under the impression that the gene is sequenced and any mutation is searched for. If one is foun, VIOLA, dx. If none is then the search is over; no CF. I will be passingthis info on to him at our next appointment. I'd like to add that this man is a total tool, and seriously ha s question your knowledge, as well as that of the CF specialist in my area. Looking forward to your reply.
Harriett,
Have you heard anything yet? We haven't heard anything since last week when we got the word on the 508 test. This waiting is really getting hard. I was hoping to know something by now...tomorrow will be three weeks. I know the paperwork said up to 5 weeks, but I honestly didn't think it would be this long.
I hope you have your answers!!!
Kim
Have you heard anything yet? We haven't heard anything since last week when we got the word on the 508 test. This waiting is really getting hard. I was hoping to know something by now...tomorrow will be three weeks. I know the paperwork said up to 5 weeks, but I honestly didn't think it would be this long.
I hope you have your answers!!!
Kim
I haven't heard anything yet either. This waiting is getting very difficult for me- and my son- too. We are coming up on 3wks as well. If the timing is the same as it was with Emily, we will get a call in the next few days... I don't think I can take waiting much longer than that. I hope you get your answers very, very soon!
The interesting thing is, with Emily having one unknown mutation: dh's nephew has one known/one unknown mutation as well- but also has cf without a doubt. I'd really like to know WHAT that known mutation IS, but as of yet haven't been able to get my dh to talk to his brother about it at all. Sigh.
I hope Steve is back sometime soon.
The interesting thing is, with Emily having one unknown mutation: dh's nephew has one known/one unknown mutation as well- but also has cf without a doubt. I'd really like to know WHAT that known mutation IS, but as of yet haven't been able to get my dh to talk to his brother about it at all. Sigh.
I hope Steve is back sometime soon.
StevenKeiles
New member
Hi everyone, sorry for that. I see there has been a lot going on, give me a chance to catch up on everyones questions. I should have a chance to respond to everything by the end of today or tomorrow the latest.
Steve
Steve
StevenKeiles
New member
Hope,
We know that the deltaF508 is almost always on a 9T chromosome so that when you also have a 5T it can be assumed to be on the opposite chromosome. When you also have 12TG repeats with the 5T that makes is a more signficant CF causing mutation. Therefore someone who has deltaF508 and a 5t/12Tg does have a form of CF. Usually the sweat levels are borderline to positive and they are usually pancreatic sufficient. So it looks like you have your answer.
Best of luck,
Steve
We know that the deltaF508 is almost always on a 9T chromosome so that when you also have a 5T it can be assumed to be on the opposite chromosome. When you also have 12TG repeats with the 5T that makes is a more signficant CF causing mutation. Therefore someone who has deltaF508 and a 5t/12Tg does have a form of CF. Usually the sweat levels are borderline to positive and they are usually pancreatic sufficient. So it looks like you have your answer.
Best of luck,
Steve
StevenKeiles
New member
ArmyMom,
CF stands for cystic fibrosis and is caused by having mutations in the CFTR gene which is the genetic code for the cystic fibrosis transmembrane regulator gene and makes the protein CFTR. If you make abnormal or reduced protein you have CF.
CF HockeyMom,
To just test for the one mutation the cost is $170. I am not aware of CF carriers being prone to certain types of cancer. There is some evidence that they are prone to develop pancreatitis and people who have chronic pancreatitis do have an increased risk for cancer, but it is the pancreatitis that causes the cancer and not the mutations.
Steve
CF stands for cystic fibrosis and is caused by having mutations in the CFTR gene which is the genetic code for the cystic fibrosis transmembrane regulator gene and makes the protein CFTR. If you make abnormal or reduced protein you have CF.
CF HockeyMom,
To just test for the one mutation the cost is $170. I am not aware of CF carriers being prone to certain types of cancer. There is some evidence that they are prone to develop pancreatitis and people who have chronic pancreatitis do have an increased risk for cancer, but it is the pancreatitis that causes the cancer and not the mutations.
Steve
StevenKeiles
New member
Munkeesmama,
Yes the CF Amplified test is the most comprehensive test there is, so if no mutations are detected it is unlikely to be CF. Over the years I have seen all type of situations come up regarding sweat tests and mutations so there is really no way to predict what will happen. Unfortunately you just have to wait for the test results. I know the waiting can be hard, but there is no alternative.
Best of luck,
Steve
Yes the CF Amplified test is the most comprehensive test there is, so if no mutations are detected it is unlikely to be CF. Over the years I have seen all type of situations come up regarding sweat tests and mutations so there is really no way to predict what will happen. Unfortunately you just have to wait for the test results. I know the waiting can be hard, but there is no alternative.
Best of luck,
Steve
StevenKeiles
New member
Harriet,
Sorry for the delay, there was a technical clitch in the website, as I was not on vacation and did not have another child. Just for the record there will be no more children, I have 3 and that is plenty for me, especially since the oldest is getting close to 16 and the baby is 20 months.
It looks like results should be coming out within this week or the beginning of next week at the latest. Lets wait and see all results before we try to guess what is going on.
Thanks for your patience.
Steve
Sorry for the delay, there was a technical clitch in the website, as I was not on vacation and did not have another child. Just for the record there will be no more children, I have 3 and that is plenty for me, especially since the oldest is getting close to 16 and the baby is 20 months.
It looks like results should be coming out within this week or the beginning of next week at the latest. Lets wait and see all results before we try to guess what is going on.
Thanks for your patience.
Steve
StevenKeiles
New member
Lety,
I would have to check to see if they forwarded the test to us. Usually the results will take about 2-4 weeks for the final results. Email me offline your personal information so I can check on it. My email is below.
Steve
I would have to check to see if they forwarded the test to us. Usually the results will take about 2-4 weeks for the final results. Email me offline your personal information so I can check on it. My email is below.
Steve
StevenKeiles
New member
Valerie,
It would be nice if only one test was needed to rule in or out CF, but as everyone on this site knows it is not always that simple. That would be the case for a lot of cases of CF such as those patients who have a very high sweat test or those babies that are diagnosed at birth and have two known common CFTR mutations.
However, in many cases a doctor would need all of the clinical information to make a diagnosis. Regarding genetic testing, the one test that can be utilized would be a comprehensive sequence test and not just a group of some randomly selected mutations.
If there is some screening test that has been performed and was negative, that is not really helful for diagnosing CF since so many mutations would be missed on a screening test.
I hope this helps, if you feel like it would be better to discuss this with me, feel free to contact me at my number below.
best of luck,
Steve
It would be nice if only one test was needed to rule in or out CF, but as everyone on this site knows it is not always that simple. That would be the case for a lot of cases of CF such as those patients who have a very high sweat test or those babies that are diagnosed at birth and have two known common CFTR mutations.
However, in many cases a doctor would need all of the clinical information to make a diagnosis. Regarding genetic testing, the one test that can be utilized would be a comprehensive sequence test and not just a group of some randomly selected mutations.
If there is some screening test that has been performed and was negative, that is not really helful for diagnosing CF since so many mutations would be missed on a screening test.
I hope this helps, if you feel like it would be better to discuss this with me, feel free to contact me at my number below.
best of luck,
Steve
Munkeesmama
New member
Hi Steve,
Thanks for the response. Can I email you offline with my daughter's information to have you check if the test is done? I seem to have quite a bit of trouble getting ahold of our geneticist for test results, and want to know if it's done before I start pestering them. Thanks.
Elaina
Edited to add: What information would you need to check on this? Thanks!
Thanks for the response. Can I email you offline with my daughter's information to have you check if the test is done? I seem to have quite a bit of trouble getting ahold of our geneticist for test results, and want to know if it's done before I start pestering them. Thanks.
Elaina
Edited to add: What information would you need to check on this? Thanks!
StevenKeiles
New member
yes Elaina , my email address is below.
steve
steve
Someone in the Family section was asking about amnio's and I wondered if you knew the answer - I'm betting you do! If you have just a routine amnio done while pregnant - let's say because you're over 35 years old - do they test for CF or do you have to specifically ask them to test for CF? And then if they do test for it are they just looking for the DF508 mutation or are they picking up on something else other than mutations as a sign of CF?
StevenKeiles
New member
Pam,
If you have an amnio for any other reason, CF is not routinely ordered unless discussed with the patient. If they do CF testing it depends on why, it is possible they would only look for the two mutations carried by the parents, or it is possible to just do a panel of mutations, but it is also possible to do the Ambry Test which is often performed for certain indications.
Steve
Elaine, you can just email me her name and birthdate and where the sample was coming from, ie what city?
If you have an amnio for any other reason, CF is not routinely ordered unless discussed with the patient. If they do CF testing it depends on why, it is possible they would only look for the two mutations carried by the parents, or it is possible to just do a panel of mutations, but it is also possible to do the Ambry Test which is often performed for certain indications.
Steve
Elaine, you can just email me her name and birthdate and where the sample was coming from, ie what city?
Welcome Back, Steve!
Sorry to hear that you were not on vacation, and glad (if you are) that there have been no additions to the family.<img src="i/expressions/face-icon-small-happy.gif" border="0">
Are any CF tests from a Nashville-area fertility clinic looking close to being done? I believe my husband is less patient that I am!
Thanks,
Kim
Sorry to hear that you were not on vacation, and glad (if you are) that there have been no additions to the family.<img src="i/expressions/face-icon-small-happy.gif" border="0">
Are any CF tests from a Nashville-area fertility clinic looking close to being done? I believe my husband is less patient that I am!
Thanks,
Kim
StevenKeiles
New member
Thanks Kim,
If all goes well it should be this week.
Steve
If all goes well it should be this week.
Steve
Ahh yes Steve... 3 kids is plenty for us too.
Ohhh Kim, this Hurry Up and Wait game is going to do me in. I was hoping you'd get your news today and I'd be right behind you- if I have to go another week I'll scream! (I know Steve... not your fault. Trying hard on the patience, really! ) Looking forward to your input whenever you are able to provide it.
Ohhh Kim, this Hurry Up and Wait game is going to do me in. I was hoping you'd get your news today and I'd be right behind you- if I have to go another week I'll scream! (I know Steve... not your fault. Trying hard on the patience, really! ) Looking forward to your input whenever you are able to provide it.
mylilangel0529
New member
hi i have a question i have 3 children who all are carriers of r1162x mutation for sure. I found that out through newborn screening. During pregnancy I was ttested and I am not a carrier atleast by there test. My husband has never been tested but he has to be the carrier of r1162x cause I do not have that mutation.
1) is it possible for my husband to have CF but not know it ( since him being just a carrier would be a 50 50 chance my kids would be a carrier and all 3 of them are which boils down to a 12.5% chance)
2) My son has had 3 sweat tests the first was normal and then when my daughter (middle daughter) had to be tested they retested him too. hers came back fine and his came back borderline. so a third test was done and came back fine. My youngest daughter has to have a sweat test done but i have not done it yet (no insurance at the moment) my question is whether i should have my son retested. He has had alot of tests done to him though ( hypospadius at 6 months, hernia operation at 2, dental surgury and tonsils and adnoids were also removed at 5)
3) does the IRT number help indicate anything on the newborn screening because my middle daughter was in the fifties and my oldest and youngest was one thirty something
im sorry this is so long but it has been driving me crazy and i haven't been able to sleep thank you
1) is it possible for my husband to have CF but not know it ( since him being just a carrier would be a 50 50 chance my kids would be a carrier and all 3 of them are which boils down to a 12.5% chance)
2) My son has had 3 sweat tests the first was normal and then when my daughter (middle daughter) had to be tested they retested him too. hers came back fine and his came back borderline. so a third test was done and came back fine. My youngest daughter has to have a sweat test done but i have not done it yet (no insurance at the moment) my question is whether i should have my son retested. He has had alot of tests done to him though ( hypospadius at 6 months, hernia operation at 2, dental surgury and tonsils and adnoids were also removed at 5)
3) does the IRT number help indicate anything on the newborn screening because my middle daughter was in the fifties and my oldest and youngest was one thirty something
im sorry this is so long but it has been driving me crazy and i haven't been able to sleep thank you