My 4-year old tested positive as a carrier for CF and had 1 mutation which was 5T. Has anyone had this? He had 2 sweat test done prior to the Ambry test. One came back positive at 73 and the other was negative at 21. His genetic test revealed he was a carrier and only had 1 mutation which was 5T. I'm just trying to get some info from someone who has this mutation. Thanks.
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Anyone with 5T mutation??
- Thread starter stormimh
- Start date
My 4-year old tested positive as a carrier for CF and had 1 mutation which was 5T. Has anyone had this? He had 2 sweat test done prior to the Ambry test. One came back positive at 73 and the other was negative at 21. His genetic test revealed he was a carrier and only had 1 mutation which was 5T. I'm just trying to get some info from someone who has this mutation. Thanks.
My 4-year old tested positive as a carrier for CF and had 1 mutation which was 5T. Has anyone had this? He had 2 sweat test done prior to the Ambry test. One came back positive at 73 and the other was negative at 21. His genetic test revealed he was a carrier and only had 1 mutation which was 5T. I'm just trying to get some info from someone who has this mutation. Thanks.
My 4-year old tested positive as a carrier for CF and had 1 mutation which was 5T. Has anyone had this? He had 2 sweat test done prior to the Ambry test. One came back positive at 73 and the other was negative at 21. His genetic test revealed he was a carrier and only had 1 mutation which was 5T. I'm just trying to get some info from someone who has this mutation. Thanks.
My 4-year old tested positive as a carrier for CF and had 1 mutation which was 5T. Has anyone had this? He had 2 sweat test done prior to the Ambry test. One came back positive at 73 and the other was negative at 21. His genetic test revealed he was a carrier and only had 1 mutation which was 5T. I'm just trying to get some info from someone who has this mutation. Thanks.
I did some looking around and found:
<a target=_blank class=ftalternatingbarlinklarge href="http://genetics.emory.edu/pdf/Emory_Human_Genetics_Cystic_Fibrosis_and_5T.PDF">http://genetics.emory.edu/pdf/...ic_Fibrosis_and_5T.PDF</a>
I'm not a carrier of that mutation; but wanted to try to help! I'm not sure if it will answer your question at all; have you checked the Ambry thread in the families section to see if any other members who were dx with it have the same questions as you do?
<img src="i/expressions/rose.gif" border="0">
<a target=_blank class=ftalternatingbarlinklarge href="http://genetics.emory.edu/pdf/Emory_Human_Genetics_Cystic_Fibrosis_and_5T.PDF">http://genetics.emory.edu/pdf/...ic_Fibrosis_and_5T.PDF</a>
I'm not a carrier of that mutation; but wanted to try to help! I'm not sure if it will answer your question at all; have you checked the Ambry thread in the families section to see if any other members who were dx with it have the same questions as you do?
<img src="i/expressions/rose.gif" border="0">
I did some looking around and found:
<a target=_blank class=ftalternatingbarlinklarge href="http://genetics.emory.edu/pdf/Emory_Human_Genetics_Cystic_Fibrosis_and_5T.PDF">http://genetics.emory.edu/pdf/...ic_Fibrosis_and_5T.PDF</a>
I'm not a carrier of that mutation; but wanted to try to help! I'm not sure if it will answer your question at all; have you checked the Ambry thread in the families section to see if any other members who were dx with it have the same questions as you do?
<img src="i/expressions/rose.gif" border="0">
<a target=_blank class=ftalternatingbarlinklarge href="http://genetics.emory.edu/pdf/Emory_Human_Genetics_Cystic_Fibrosis_and_5T.PDF">http://genetics.emory.edu/pdf/...ic_Fibrosis_and_5T.PDF</a>
I'm not a carrier of that mutation; but wanted to try to help! I'm not sure if it will answer your question at all; have you checked the Ambry thread in the families section to see if any other members who were dx with it have the same questions as you do?
<img src="i/expressions/rose.gif" border="0">
I did some looking around and found:
<a target=_blank class=ftalternatingbarlinklarge href="http://genetics.emory.edu/pdf/Emory_Human_Genetics_Cystic_Fibrosis_and_5T.PDF">http://genetics.emory.edu/pdf/...ic_Fibrosis_and_5T.PDF</a>
I'm not a carrier of that mutation; but wanted to try to help! I'm not sure if it will answer your question at all; have you checked the Ambry thread in the families section to see if any other members who were dx with it have the same questions as you do?
<img src="i/expressions/rose.gif" border="0">
<a target=_blank class=ftalternatingbarlinklarge href="http://genetics.emory.edu/pdf/Emory_Human_Genetics_Cystic_Fibrosis_and_5T.PDF">http://genetics.emory.edu/pdf/...ic_Fibrosis_and_5T.PDF</a>
I'm not a carrier of that mutation; but wanted to try to help! I'm not sure if it will answer your question at all; have you checked the Ambry thread in the families section to see if any other members who were dx with it have the same questions as you do?
<img src="i/expressions/rose.gif" border="0">
I did some looking around and found:
<a target=_blank class=ftalternatingbarlinklarge href="http://genetics.emory.edu/pdf/Emory_Human_Genetics_Cystic_Fibrosis_and_5T.PDF">http://genetics.emory.edu/pdf/...ic_Fibrosis_and_5T.PDF</a>
I'm not a carrier of that mutation; but wanted to try to help! I'm not sure if it will answer your question at all; have you checked the Ambry thread in the families section to see if any other members who were dx with it have the same questions as you do?
<img src="i/expressions/rose.gif" border="0">
<a target=_blank class=ftalternatingbarlinklarge href="http://genetics.emory.edu/pdf/Emory_Human_Genetics_Cystic_Fibrosis_and_5T.PDF">http://genetics.emory.edu/pdf/...ic_Fibrosis_and_5T.PDF</a>
I'm not a carrier of that mutation; but wanted to try to help! I'm not sure if it will answer your question at all; have you checked the Ambry thread in the families section to see if any other members who were dx with it have the same questions as you do?
<img src="i/expressions/rose.gif" border="0">
I did some looking around and found:
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://genetics.emory.edu/pdf/Emory_Human_Genetics_Cystic_Fibrosis_and_5T.PDF">http://genetics.emory.edu/pdf/...ic_Fibrosis_and_5T.PDF</a>
<br />
<br />I'm not a carrier of that mutation; but wanted to try to help! I'm not sure if it will answer your question at all; have you checked the Ambry thread in the families section to see if any other members who were dx with it have the same questions as you do?
<br />
<br /><img src="i/expressions/rose.gif" border="0">
<br /><a target=_blank class=ftalternatingbarlinklarge href="http://genetics.emory.edu/pdf/Emory_Human_Genetics_Cystic_Fibrosis_and_5T.PDF">http://genetics.emory.edu/pdf/...ic_Fibrosis_and_5T.PDF</a>
<br />
<br />I'm not a carrier of that mutation; but wanted to try to help! I'm not sure if it will answer your question at all; have you checked the Ambry thread in the families section to see if any other members who were dx with it have the same questions as you do?
<br />
<br /><img src="i/expressions/rose.gif" border="0">
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CAandCFnewbie
New member
It is important to know what tests were performed. A standard screen, as was done on me in Missouri tested for only 25 common -to those populations - mutations. I was told I didn't have any mutations. Minnesota, where I grew up tested for 75. My lung specialist didn't even convey the known genetic mutation my brother in MN had confirmed in the process of fertility testing. I then had more thorough screening THEN full gene sequencing. I was diagnosed at age 44, now 50 and living in California. My husband is a genetecist so I have alot of help in understanding the tests. I have R117c and 3850 3t-g and a 7T/7T poly T variant. They test for 5T 7T or 9T variants. As noted certain mutations have less or more effect with the T variants. My brother has the same mutations but a 9T variant. There was only one noted history of 3850... when we were sequenced. Ambry has added hundreds of known mutations to their tests since 2004! No matter what mutation is labeled or even documented due to your son's experience, remember-a mutation is not your destiny. They don't treat by mutation. Be his best advocate, get educated, get support!
There is a site that you can search your mutations. I remember it as obscure and hard to access but it listed, descibed and explained the class of mutation. There were 5 classes I was aware of, for example delta508 is a complete shutoff of the chloride channel. There's also a book that shows how the mutation can alter the protein and how/why a partial uptake of chloride occurs. Wishing you well in your journey.
Linda
There is a site that you can search your mutations. I remember it as obscure and hard to access but it listed, descibed and explained the class of mutation. There were 5 classes I was aware of, for example delta508 is a complete shutoff of the chloride channel. There's also a book that shows how the mutation can alter the protein and how/why a partial uptake of chloride occurs. Wishing you well in your journey.
Linda
CAandCFnewbie
New member
It is important to know what tests were performed. A standard screen, as was done on me in Missouri tested for only 25 common -to those populations - mutations. I was told I didn't have any mutations. Minnesota, where I grew up tested for 75. My lung specialist didn't even convey the known genetic mutation my brother in MN had confirmed in the process of fertility testing. I then had more thorough screening THEN full gene sequencing. I was diagnosed at age 44, now 50 and living in California. My husband is a genetecist so I have alot of help in understanding the tests. I have R117c and 3850 3t-g and a 7T/7T poly T variant. They test for 5T 7T or 9T variants. As noted certain mutations have less or more effect with the T variants. My brother has the same mutations but a 9T variant. There was only one noted history of 3850... when we were sequenced. Ambry has added hundreds of known mutations to their tests since 2004! No matter what mutation is labeled or even documented due to your son's experience, remember-a mutation is not your destiny. They don't treat by mutation. Be his best advocate, get educated, get support!
There is a site that you can search your mutations. I remember it as obscure and hard to access but it listed, descibed and explained the class of mutation. There were 5 classes I was aware of, for example delta508 is a complete shutoff of the chloride channel. There's also a book that shows how the mutation can alter the protein and how/why a partial uptake of chloride occurs. Wishing you well in your journey.
Linda
There is a site that you can search your mutations. I remember it as obscure and hard to access but it listed, descibed and explained the class of mutation. There were 5 classes I was aware of, for example delta508 is a complete shutoff of the chloride channel. There's also a book that shows how the mutation can alter the protein and how/why a partial uptake of chloride occurs. Wishing you well in your journey.
Linda
CAandCFnewbie
New member
It is important to know what tests were performed. A standard screen, as was done on me in Missouri tested for only 25 common -to those populations - mutations. I was told I didn't have any mutations. Minnesota, where I grew up tested for 75. My lung specialist didn't even convey the known genetic mutation my brother in MN had confirmed in the process of fertility testing. I then had more thorough screening THEN full gene sequencing. I was diagnosed at age 44, now 50 and living in California. My husband is a genetecist so I have alot of help in understanding the tests. I have R117c and 3850 3t-g and a 7T/7T poly T variant. They test for 5T 7T or 9T variants. As noted certain mutations have less or more effect with the T variants. My brother has the same mutations but a 9T variant. There was only one noted history of 3850... when we were sequenced. Ambry has added hundreds of known mutations to their tests since 2004! No matter what mutation is labeled or even documented due to your son's experience, remember-a mutation is not your destiny. They don't treat by mutation. Be his best advocate, get educated, get support!
There is a site that you can search your mutations. I remember it as obscure and hard to access but it listed, descibed and explained the class of mutation. There were 5 classes I was aware of, for example delta508 is a complete shutoff of the chloride channel. There's also a book that shows how the mutation can alter the protein and how/why a partial uptake of chloride occurs. Wishing you well in your journey.
Linda
There is a site that you can search your mutations. I remember it as obscure and hard to access but it listed, descibed and explained the class of mutation. There were 5 classes I was aware of, for example delta508 is a complete shutoff of the chloride channel. There's also a book that shows how the mutation can alter the protein and how/why a partial uptake of chloride occurs. Wishing you well in your journey.
Linda
CAandCFnewbie
New member
It is important to know what tests were performed. A standard screen, as was done on me in Missouri tested for only 25 common -to those populations - mutations. I was told I didn't have any mutations. Minnesota, where I grew up tested for 75. My lung specialist didn't even convey the known genetic mutation my brother in MN had confirmed in the process of fertility testing. I then had more thorough screening THEN full gene sequencing. I was diagnosed at age 44, now 50 and living in California. My husband is a genetecist so I have alot of help in understanding the tests. I have R117c and 3850 3t-g and a 7T/7T poly T variant. They test for 5T 7T or 9T variants. As noted certain mutations have less or more effect with the T variants. My brother has the same mutations but a 9T variant. There was only one noted history of 3850... when we were sequenced. Ambry has added hundreds of known mutations to their tests since 2004! No matter what mutation is labeled or even documented due to your son's experience, remember-a mutation is not your destiny. They don't treat by mutation. Be his best advocate, get educated, get support!
There is a site that you can search your mutations. I remember it as obscure and hard to access but it listed, descibed and explained the class of mutation. There were 5 classes I was aware of, for example delta508 is a complete shutoff of the chloride channel. There's also a book that shows how the mutation can alter the protein and how/why a partial uptake of chloride occurs. Wishing you well in your journey.
Linda
There is a site that you can search your mutations. I remember it as obscure and hard to access but it listed, descibed and explained the class of mutation. There were 5 classes I was aware of, for example delta508 is a complete shutoff of the chloride channel. There's also a book that shows how the mutation can alter the protein and how/why a partial uptake of chloride occurs. Wishing you well in your journey.
Linda
CAandCFnewbie
New member
It is important to know what tests were performed. A standard screen, as was done on me in Missouri tested for only 25 common -to those populations - mutations. I was told I didn't have any mutations. Minnesota, where I grew up tested for 75. My lung specialist didn't even convey the known genetic mutation my brother in MN had confirmed in the process of fertility testing. I then had more thorough screening THEN full gene sequencing. I was diagnosed at age 44, now 50 and living in California. My husband is a genetecist so I have alot of help in understanding the tests. I have R117c and 3850 3t-g and a 7T/7T poly T variant. They test for 5T 7T or 9T variants. As noted certain mutations have less or more effect with the T variants. My brother has the same mutations but a 9T variant. There was only one noted history of 3850... when we were sequenced. Ambry has added hundreds of known mutations to their tests since 2004! No matter what mutation is labeled or even documented due to your son's experience, remember-a mutation is not your destiny. They don't treat by mutation. Be his best advocate, get educated, get support!
<br /> There is a site that you can search your mutations. I remember it as obscure and hard to access but it listed, descibed and explained the class of mutation. There were 5 classes I was aware of, for example delta508 is a complete shutoff of the chloride channel. There's also a book that shows how the mutation can alter the protein and how/why a partial uptake of chloride occurs. Wishing you well in your journey.
<br />Linda
<br /> There is a site that you can search your mutations. I remember it as obscure and hard to access but it listed, descibed and explained the class of mutation. There were 5 classes I was aware of, for example delta508 is a complete shutoff of the chloride channel. There's also a book that shows how the mutation can alter the protein and how/why a partial uptake of chloride occurs. Wishing you well in your journey.
<br />Linda