StevenKeiles
New member
Stan,
I replied to you privately.
Steve
I replied to you privately.
Steve
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Welcome Ambry Genetics
- Thread starter Buckeye
- Start date
G
Godisincontrol
Guest
Steve,
My wife and I have 5 kids and are pregnant with number 6. She was just tested and came up posative with the F508 mutation and then I was tested and am posative with the I507 mutation. Our children are 7,6,4,2,and 1 and seem healthy enough. I know the F508 can result in children with more serious pulmonary and GI conditions, but what about I507. Does this increase the chances of more "milder" symptoms?
Thank you
Mark
My wife and I have 5 kids and are pregnant with number 6. She was just tested and came up posative with the F508 mutation and then I was tested and am posative with the I507 mutation. Our children are 7,6,4,2,and 1 and seem healthy enough. I know the F508 can result in children with more serious pulmonary and GI conditions, but what about I507. Does this increase the chances of more "milder" symptoms?
Thank you
Mark
Steve,
I had my ambry test kit done today. I am really worried that for some reason it is not going to be done. Can you let me know when you guys get it. I have read on some other post that you have that kinda power. If you think about it you are like the all powerfull wizard of oz. You know everything but nobody can see you. Anyways I am Ashley Z. from Michigan.
I had my ambry test kit done today. I am really worried that for some reason it is not going to be done. Can you let me know when you guys get it. I have read on some other post that you have that kinda power. If you think about it you are like the all powerfull wizard of oz. You know everything but nobody can see you. Anyways I am Ashley Z. from Michigan.
StevenKeiles
New member
Mark,
If the mutation she has is deltaI507, then it would be similar to the deltaF508 and if the two are combined it would be expected to cause a more typical CF disease. I would recommned getting all of the kids tested. the odds are at least one of them would be affected, but maybe you got lucky and none of them inherited both mutations.
Best of luck,
Steve
If the mutation she has is deltaI507, then it would be similar to the deltaF508 and if the two are combined it would be expected to cause a more typical CF disease. I would recommned getting all of the kids tested. the odds are at least one of them would be affected, but maybe you got lucky and none of them inherited both mutations.
Best of luck,
Steve
holmfamily1992
New member
Hi Steve,
Just a quick question, Is it common for a certain mutation to be carried on from one family member to another or can mutation's change at some point? When my brothers little girl is tested, should they be testing for the same mutation as what I carry and should he tell the doctor what mutation was found?
Thanks, Tina
Just a quick question, Is it common for a certain mutation to be carried on from one family member to another or can mutation's change at some point? When my brothers little girl is tested, should they be testing for the same mutation as what I carry and should he tell the doctor what mutation was found?
Thanks, Tina
G
Godisincontrol
Guest
<begin quote><i>Originally posted by: <b>StevenKeiles</b></i>
I would recommned getting all of the kids tested. the odds are at least one of them would be affected, but maybe you got lucky and none of them inherited both mutations.
Steve</end quote>
It seems to be widely recomended that we get our children tested, but when we talked to their pediatrician, he said that there was no reason to test them if they were growing at a normal rate and had no respiratory issues. We really want to do what's best for our kids, but we need to know what medical benefits there are to early detection without any symptoms. Do we want to prevent them from being able to get things like life insurance later on if they are positive but don't develop symptoms until their late 20's or 30's?
Thank you
Mark
I would recommned getting all of the kids tested. the odds are at least one of them would be affected, but maybe you got lucky and none of them inherited both mutations.
Steve</end quote>
It seems to be widely recomended that we get our children tested, but when we talked to their pediatrician, he said that there was no reason to test them if they were growing at a normal rate and had no respiratory issues. We really want to do what's best for our kids, but we need to know what medical benefits there are to early detection without any symptoms. Do we want to prevent them from being able to get things like life insurance later on if they are positive but don't develop symptoms until their late 20's or 30's?
Thank you
Mark
I have read that some doctors will not diagnose if you do not have symptoms. They say that symptoms plus positive test results equals a diagnosis. So if you got your kids tested and they were positive you could ask the doc to put off a diagnosis untill they present with symptoms.
Just a thought.
Just a thought.
StevenKeiles
New member
Mark,
I understand the idea of not testing children for adult onset disorders. However, the onset of CF can occur at anytime and can even go undetected in the beginning if you are not looking for it. The purpose of newborn screening for CF, is to diagnose kids before they get sick so you can treat them before they get sick to decrease the likelihood and or severity of infections and other complications. If there was no benefit to newborn screening, we could just wait until the kids get sick and test them at that time. Since there is general consensus that newborn screening for CF is beneficial, they is clearly a benefit to it. Using the same arguement I would always recommend testing siblings once you know there is a risk either through diagnosis of an affected child or identification of the parents each carrying a CF mutation.
This is just my opinion, but I would bet that I am not alone and most CF centers and geneticists would agree.
Steve
I understand the idea of not testing children for adult onset disorders. However, the onset of CF can occur at anytime and can even go undetected in the beginning if you are not looking for it. The purpose of newborn screening for CF, is to diagnose kids before they get sick so you can treat them before they get sick to decrease the likelihood and or severity of infections and other complications. If there was no benefit to newborn screening, we could just wait until the kids get sick and test them at that time. Since there is general consensus that newborn screening for CF is beneficial, they is clearly a benefit to it. Using the same arguement I would always recommend testing siblings once you know there is a risk either through diagnosis of an affected child or identification of the parents each carrying a CF mutation.
This is just my opinion, but I would bet that I am not alone and most CF centers and geneticists would agree.
Steve
StevenKeiles
New member
Tina,
Mutation do not change, so they do need to make sure that whatever CF test they do for family members would include the mutation that you know you carry. Depending on the mutation is may or may not be included in the standard mutation panel.
Steve
Mutation do not change, so they do need to make sure that whatever CF test they do for family members would include the mutation that you know you carry. Depending on the mutation is may or may not be included in the standard mutation panel.
Steve
Husband needs to be tested
Hi Steve,
Just spent the past hour reading through all these posts as I am a new member to the site, and am a Mom to 8-month old Ellis who has CF. I am curious to the CF gene I carry (husband is the common delF508) which is c.2876delC.
Also my parents and siblings are in Victoria, BC, Canada and the local CF clinic is lacksidasical about organizing for gene testing. Since I had to have a full gene profile done (I am in Australia but the sequencing was done in New Zealand), do you know of a company other than Toronto Sick Kids who does the full test? I understand they can send samples to Ambry, but thought I would try the Canadian option first. My siblings are interested in starting a family shortly and so would love to find out as soon as possible.
I appreciate your reply when you get to it. You've been an invaluable resource on this site! Thanks so much!
Hi Steve,
Just spent the past hour reading through all these posts as I am a new member to the site, and am a Mom to 8-month old Ellis who has CF. I am curious to the CF gene I carry (husband is the common delF508) which is c.2876delC.
Also my parents and siblings are in Victoria, BC, Canada and the local CF clinic is lacksidasical about organizing for gene testing. Since I had to have a full gene profile done (I am in Australia but the sequencing was done in New Zealand), do you know of a company other than Toronto Sick Kids who does the full test? I understand they can send samples to Ambry, but thought I would try the Canadian option first. My siblings are interested in starting a family shortly and so would love to find out as soon as possible.
I appreciate your reply when you get to it. You've been an invaluable resource on this site! Thanks so much!
StevenKeiles
New member
Husband needs to be tested
Gnome,
The IVS8-9T is a normal variant.
Chilemom,
The 1811+1.6kb is a mutation that occurs deep in intron 19. It was first described in a population in Spain and appears to be most common among patients of hispanic background. From my experience it also seems to be a severe typical CF causing mutation. Most patients with this mutation would have a classic form of CF if the other mutation is also severe. The G551D is probably not quite as bad as deltaF508 so there may be some variability with this combination.
Steve
Gnome,
The IVS8-9T is a normal variant.
Chilemom,
The 1811+1.6kb is a mutation that occurs deep in intron 19. It was first described in a population in Spain and appears to be most common among patients of hispanic background. From my experience it also seems to be a severe typical CF causing mutation. Most patients with this mutation would have a classic form of CF if the other mutation is also severe. The G551D is probably not quite as bad as deltaF508 so there may be some variability with this combination.
Steve
StevenKeiles
New member
Husband needs to be tested
Nealag,
I am not aware of any Canadian company other than Toronto Sickkids who does gene sequencing for CF, that is why we get so many samples from Canada. My experience is that if testing can be done through Sickkids it can take a very long time to get results.
Steve
Nealag,
I am not aware of any Canadian company other than Toronto Sickkids who does gene sequencing for CF, that is why we get so many samples from Canada. My experience is that if testing can be done through Sickkids it can take a very long time to get results.
Steve
Husband needs to be tested
Steven,
Hi, Im based in the Uk and me and my wife are both Indian (British Born and Bred). Our Son is 10 months old Raiyaan. We have found this information on genetic mutations overwhelming. The hospital have advised us that our son has:
2 mutations L218X and Y569D. (We`ve been advises these are very rare)
Can you shed some light on this or advise any further.
Regards
Mohammad
Steven,
Hi, Im based in the Uk and me and my wife are both Indian (British Born and Bred). Our Son is 10 months old Raiyaan. We have found this information on genetic mutations overwhelming. The hospital have advised us that our son has:
2 mutations L218X and Y569D. (We`ve been advises these are very rare)
Can you shed some light on this or advise any further.
Regards
Mohammad
StevenKeiles
New member
Husband needs to be tested
Mohammad,
Both are very rare, the L218X we have only seen once. I would expect this to be a typical severe CF mutation based on the type of mutation it is. The other one, Y569D we have never seen, so that tells you how rare it is, therefore I can not give you any specific information about it.
Best of luck,
Steve
Mohammad,
Both are very rare, the L218X we have only seen once. I would expect this to be a typical severe CF mutation based on the type of mutation it is. The other one, Y569D we have never seen, so that tells you how rare it is, therefore I can not give you any specific information about it.
Best of luck,
Steve
StevenKeiles
New member
Husband needs to be tested
mohammad,
One other piece of information on the Y569D, that mutation was first described in England in 3 Pakistani patients in 1995. So it appears to be mostly in the Asian/Indian ethnic group. The other mutation we have seen in a Thai family.
I hope that helps.
Steve
mohammad,
One other piece of information on the Y569D, that mutation was first described in England in 3 Pakistani patients in 1995. So it appears to be mostly in the Asian/Indian ethnic group. The other mutation we have seen in a Thai family.
I hope that helps.
Steve
Husband needs to be tested
Steve,
It has been about a week and a half since I sent in my sample to Ambry. I was wondering how it was coming along. Can you give me any kind of time frame as to when we might get it back.
My daughter was hospitalized again for 3 days. We just got out today so I am really anxious to hear anything about my test.
Ashley Z. Michigan
Steve,
It has been about a week and a half since I sent in my sample to Ambry. I was wondering how it was coming along. Can you give me any kind of time frame as to when we might get it back.
My daughter was hospitalized again for 3 days. We just got out today so I am really anxious to hear anything about my test.
Ashley Z. Michigan
StevenKeiles
New member
Husband needs to be tested
Ashley,
We have had the sample for 1 week, the time to get results can range from 2-5 weeks with the average of around 3, so you have a little more time at least.
Best of luck,
Steve
Ashley,
We have had the sample for 1 week, the time to get results can range from 2-5 weeks with the average of around 3, so you have a little more time at least.
Best of luck,
Steve
Husband needs to be tested
Thanks again Steve,
Do I suggest then that my family's GP get in touch with Ambry via the submission kit on the website? Or is there a better way?
Also would appreciate any info you have on c.2876delC. Is it a common CF gene? Feel free to point a web resource out for me to look at if you have already been asked this question a zillion times!
Thanks!
Thanks again Steve,
Do I suggest then that my family's GP get in touch with Ambry via the submission kit on the website? Or is there a better way?
Also would appreciate any info you have on c.2876delC. Is it a common CF gene? Feel free to point a web resource out for me to look at if you have already been asked this question a zillion times!
Thanks!