I had one of the preliminary genetic tests done- oh let's see, my sister was young enough that when they took her blood, she said "Momma, they're wasting my blood!" <img src="i/expressions/face-icon-small-wink.gif" border="0"> and she's fixing to turn 31 this month- so it's been a while! Anyways, they said I had the most common defect, so I am assuming that means I had 2 of them (that's the DF508- right? or do I have it mixed up with something similar?). I plan on asking if it is in my records somewhere (yeah, like they'll be able to find it if they have it in 30 years of records, but...). If it isn't, is there any reason for me to get retested and find out for sure?
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Most common cf gene?
- Thread starter AnD
- Start date
I had one of the preliminary genetic tests done- oh let's see, my sister was young enough that when they took her blood, she said "Momma, they're wasting my blood!" <img src="i/expressions/face-icon-small-wink.gif" border="0"> and she's fixing to turn 31 this month- so it's been a while! Anyways, they said I had the most common defect, so I am assuming that means I had 2 of them (that's the DF508- right? or do I have it mixed up with something similar?). I plan on asking if it is in my records somewhere (yeah, like they'll be able to find it if they have it in 30 years of records, but...). If it isn't, is there any reason for me to get retested and find out for sure?
I had one of the preliminary genetic tests done- oh let's see, my sister was young enough that when they took her blood, she said "Momma, they're wasting my blood!" <img src="i/expressions/face-icon-small-wink.gif" border="0"> and she's fixing to turn 31 this month- so it's been a while! Anyways, they said I had the most common defect, so I am assuming that means I had 2 of them (that's the DF508- right? or do I have it mixed up with something similar?). I plan on asking if it is in my records somewhere (yeah, like they'll be able to find it if they have it in 30 years of records, but...). If it isn't, is there any reason for me to get retested and find out for sure?
Emily65Roses
New member
The most common CF gene in the US is Delta F508, yes. So if you're the most common combination, you'd have a double Delta F508.
As for knowing your mutations, it's really a curiosity thing more than anything else. Like I found out mine because I wanted to get them tattooed on me. But you don't really need to know them for medical purposes. They do say a little bit about your CF (which Classes the mutations are in, for instance), but nothing is concrete, so it's really not necessary.
In case Classes is a new idea to you, there are 5 CF mutation Classes. I is typically categorized as "the worst" and V is "the mildest." There is more specific reasoning to this, but it gets very much into the cellular biology stuff. Also, there's a LOT of other stuff to consider in "how bad" your CF is, it's not just which mutations you have. For your information, Delta F508 is a Class II.
As for knowing your mutations, it's really a curiosity thing more than anything else. Like I found out mine because I wanted to get them tattooed on me. But you don't really need to know them for medical purposes. They do say a little bit about your CF (which Classes the mutations are in, for instance), but nothing is concrete, so it's really not necessary.
In case Classes is a new idea to you, there are 5 CF mutation Classes. I is typically categorized as "the worst" and V is "the mildest." There is more specific reasoning to this, but it gets very much into the cellular biology stuff. Also, there's a LOT of other stuff to consider in "how bad" your CF is, it's not just which mutations you have. For your information, Delta F508 is a Class II.
Emily65Roses
New member
The most common CF gene in the US is Delta F508, yes. So if you're the most common combination, you'd have a double Delta F508.
As for knowing your mutations, it's really a curiosity thing more than anything else. Like I found out mine because I wanted to get them tattooed on me. But you don't really need to know them for medical purposes. They do say a little bit about your CF (which Classes the mutations are in, for instance), but nothing is concrete, so it's really not necessary.
In case Classes is a new idea to you, there are 5 CF mutation Classes. I is typically categorized as "the worst" and V is "the mildest." There is more specific reasoning to this, but it gets very much into the cellular biology stuff. Also, there's a LOT of other stuff to consider in "how bad" your CF is, it's not just which mutations you have. For your information, Delta F508 is a Class II.
As for knowing your mutations, it's really a curiosity thing more than anything else. Like I found out mine because I wanted to get them tattooed on me. But you don't really need to know them for medical purposes. They do say a little bit about your CF (which Classes the mutations are in, for instance), but nothing is concrete, so it's really not necessary.
In case Classes is a new idea to you, there are 5 CF mutation Classes. I is typically categorized as "the worst" and V is "the mildest." There is more specific reasoning to this, but it gets very much into the cellular biology stuff. Also, there's a LOT of other stuff to consider in "how bad" your CF is, it's not just which mutations you have. For your information, Delta F508 is a Class II.
Emily65Roses
New member
The most common CF gene in the US is Delta F508, yes. So if you're the most common combination, you'd have a double Delta F508.
As for knowing your mutations, it's really a curiosity thing more than anything else. Like I found out mine because I wanted to get them tattooed on me. But you don't really need to know them for medical purposes. They do say a little bit about your CF (which Classes the mutations are in, for instance), but nothing is concrete, so it's really not necessary.
In case Classes is a new idea to you, there are 5 CF mutation Classes. I is typically categorized as "the worst" and V is "the mildest." There is more specific reasoning to this, but it gets very much into the cellular biology stuff. Also, there's a LOT of other stuff to consider in "how bad" your CF is, it's not just which mutations you have. For your information, Delta F508 is a Class II.
As for knowing your mutations, it's really a curiosity thing more than anything else. Like I found out mine because I wanted to get them tattooed on me. But you don't really need to know them for medical purposes. They do say a little bit about your CF (which Classes the mutations are in, for instance), but nothing is concrete, so it's really not necessary.
In case Classes is a new idea to you, there are 5 CF mutation Classes. I is typically categorized as "the worst" and V is "the mildest." There is more specific reasoning to this, but it gets very much into the cellular biology stuff. Also, there's a LOT of other stuff to consider in "how bad" your CF is, it's not just which mutations you have. For your information, Delta F508 is a Class II.
blindhearted
New member
They told me I had one of the most common combos and I have Delta F508 and G542X. I got tested just out of being curious. They had no problem doing it. If they cant find it and you want to get retested, they should do it.
blindhearted
New member
They told me I had one of the most common combos and I have Delta F508 and G542X. I got tested just out of being curious. They had no problem doing it. If they cant find it and you want to get retested, they should do it.
blindhearted
New member
They told me I had one of the most common combos and I have Delta F508 and G542X. I got tested just out of being curious. They had no problem doing it. If they cant find it and you want to get retested, they should do it.
The most common reasons besides normal curiosity for find out your mutations is when you have children. IF you are a CFer and have children your child WILL get one of those genes. So if you want the child to have this knowledge that may or may not impact decisions on having child etc then you find out. Some people want to know for any break thrus in CF research that might influence one mutation more then another. Some just consider it part of the family medical history. That is kind of where I stand. Its part of my family medical history. We dont have any of that until me so I am the first to begin it!!!
The most common reasons besides normal curiosity for find out your mutations is when you have children. IF you are a CFer and have children your child WILL get one of those genes. So if you want the child to have this knowledge that may or may not impact decisions on having child etc then you find out. Some people want to know for any break thrus in CF research that might influence one mutation more then another. Some just consider it part of the family medical history. That is kind of where I stand. Its part of my family medical history. We dont have any of that until me so I am the first to begin it!!!
The most common reasons besides normal curiosity for find out your mutations is when you have children. IF you are a CFer and have children your child WILL get one of those genes. So if you want the child to have this knowledge that may or may not impact decisions on having child etc then you find out. Some people want to know for any break thrus in CF research that might influence one mutation more then another. Some just consider it part of the family medical history. That is kind of where I stand. Its part of my family medical history. We dont have any of that until me so I am the first to begin it!!!
Thanks for the info! I am curious to see if it is the double Df508- I am assuming it is, since they didn't mention that it was anything else, (and I still didn't have any lung involvement, so they were expecting me to have a mutation), but it was also so long ago (in the baby stages of testing for the cf gene), so I don't know.
We did have my DH tested before we decided to have kids, and Ab is fine, but if there is a different gene other than just that one, I would like to know <img src="i/expressions/face-icon-small-wink.gif" border="0"> .
We did have my DH tested before we decided to have kids, and Ab is fine, but if there is a different gene other than just that one, I would like to know <img src="i/expressions/face-icon-small-wink.gif" border="0"> .
Thanks for the info! I am curious to see if it is the double Df508- I am assuming it is, since they didn't mention that it was anything else, (and I still didn't have any lung involvement, so they were expecting me to have a mutation), but it was also so long ago (in the baby stages of testing for the cf gene), so I don't know.
We did have my DH tested before we decided to have kids, and Ab is fine, but if there is a different gene other than just that one, I would like to know <img src="i/expressions/face-icon-small-wink.gif" border="0"> .
We did have my DH tested before we decided to have kids, and Ab is fine, but if there is a different gene other than just that one, I would like to know <img src="i/expressions/face-icon-small-wink.gif" border="0"> .
Thanks for the info! I am curious to see if it is the double Df508- I am assuming it is, since they didn't mention that it was anything else, (and I still didn't have any lung involvement, so they were expecting me to have a mutation), but it was also so long ago (in the baby stages of testing for the cf gene), so I don't know.
We did have my DH tested before we decided to have kids, and Ab is fine, but if there is a different gene other than just that one, I would like to know <img src="i/expressions/face-icon-small-wink.gif" border="0"> .
We did have my DH tested before we decided to have kids, and Ab is fine, but if there is a different gene other than just that one, I would like to know <img src="i/expressions/face-icon-small-wink.gif" border="0"> .