Hi--Thanks to all who have helped me ease some of my worries as we wait for genetic testing to complete after inconclusive sweat test. I am having a bit of a difficult time understanding mutations and how they work. My husbands side of the family has carries of the delta 508 mutation. He has not been tested. The CF center called and said the first round of tests were negative for the common mutations. Does that mean that all mutations with the dd508 mutation are ruled out since it is the most common one? i hope this makes sense. We have been trying since August to figure out what is wrong with my 14 year old son so I am pretty anxious about these results.
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Gene mutation confusion
- Thread starter auntcob
- Start date
Hi--Thanks to all who have helped me ease some of my worries as we wait for genetic testing to complete after inconclusive sweat test. I am having a bit of a difficult time understanding mutations and how they work. My husbands side of the family has carries of the delta 508 mutation. He has not been tested. The CF center called and said the first round of tests were negative for the common mutations. Does that mean that all mutations with the dd508 mutation are ruled out since it is the most common one? i hope this makes sense. We have been trying since August to figure out what is wrong with my 14 year old son so I am pretty anxious about these results.
Hi--Thanks to all who have helped me ease some of my worries as we wait for genetic testing to complete after inconclusive sweat test. I am having a bit of a difficult time understanding mutations and how they work. My husbands side of the family has carries of the delta 508 mutation. He has not been tested. The CF center called and said the first round of tests were negative for the common mutations. Does that mean that all mutations with the dd508 mutation are ruled out since it is the most common one? i hope this makes sense. We have been trying since August to figure out what is wrong with my 14 year old son so I am pretty anxious about these results.
Hi--Thanks to all who have helped me ease some of my worries as we wait for genetic testing to complete after inconclusive sweat test. I am having a bit of a difficult time understanding mutations and how they work. My husbands side of the family has carries of the delta 508 mutation. He has not been tested. The CF center called and said the first round of tests were negative for the common mutations. Does that mean that all mutations with the dd508 mutation are ruled out since it is the most common one? i hope this makes sense. We have been trying since August to figure out what is wrong with my 14 year old son so I am pretty anxious about these results.
Hi--Thanks to all who have helped me ease some of my worries as we wait for genetic testing to complete after inconclusive sweat test. I am having a bit of a difficult time understanding mutations and how they work. My husbands side of the family has carries of the delta 508 mutation. He has not been tested. The CF center called and said the first round of tests were negative for the common mutations. Does that mean that all mutations with the dd508 mutation are ruled out since it is the most common one? i hope this makes sense. We have been trying since August to figure out what is wrong with my 14 year old son so I am pretty anxious about these results.
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F508 is looked for in the initial panal, b/c like you said, it is the most common. If that is the mutation that is found in his family, that is good news that he is not a carrier. However, you may want to encourage them to do gene sequencing on your son if he is showing signs and symptoms and you and dr.s are concerned about a CF diagnosis. My daughter showed positive signs of CF, and had positive sweat test at 2 1/2. We ended up doing genetic testing a year later and NO mutations were found in the first panal. They did sequencing on CFTR and found one rare mutation, and identified another one which has never been recorded before. By looking at the whole gene they can identify all mutations now.
Good luck!
Good luck!
F508 is looked for in the initial panal, b/c like you said, it is the most common. If that is the mutation that is found in his family, that is good news that he is not a carrier. However, you may want to encourage them to do gene sequencing on your son if he is showing signs and symptoms and you and dr.s are concerned about a CF diagnosis. My daughter showed positive signs of CF, and had positive sweat test at 2 1/2. We ended up doing genetic testing a year later and NO mutations were found in the first panal. They did sequencing on CFTR and found one rare mutation, and identified another one which has never been recorded before. By looking at the whole gene they can identify all mutations now.
Good luck!
Good luck!
F508 is looked for in the initial panal, b/c like you said, it is the most common. If that is the mutation that is found in his family, that is good news that he is not a carrier. However, you may want to encourage them to do gene sequencing on your son if he is showing signs and symptoms and you and dr.s are concerned about a CF diagnosis. My daughter showed positive signs of CF, and had positive sweat test at 2 1/2. We ended up doing genetic testing a year later and NO mutations were found in the first panal. They did sequencing on CFTR and found one rare mutation, and identified another one which has never been recorded before. By looking at the whole gene they can identify all mutations now.
Good luck!
Good luck!
F508 is looked for in the initial panal, b/c like you said, it is the most common. If that is the mutation that is found in his family, that is good news that he is not a carrier. However, you may want to encourage them to do gene sequencing on your son if he is showing signs and symptoms and you and dr.s are concerned about a CF diagnosis. My daughter showed positive signs of CF, and had positive sweat test at 2 1/2. We ended up doing genetic testing a year later and NO mutations were found in the first panal. They did sequencing on CFTR and found one rare mutation, and identified another one which has never been recorded before. By looking at the whole gene they can identify all mutations now.
Good luck!
Good luck!
F508 is looked for in the initial panal, b/c like you said, it is the most common. If that is the mutation that is found in his family, that is good news that he is not a carrier. However, you may want to encourage them to do gene sequencing on your son if he is showing signs and symptoms and you and dr.s are concerned about a CF diagnosis. My daughter showed positive signs of CF, and had positive sweat test at 2 1/2. We ended up doing genetic testing a year later and NO mutations were found in the first panal. They did sequencing on CFTR and found one rare mutation, and identified another one which has never been recorded before. By looking at the whole gene they can identify all mutations now.
<br />
<br />Good luck!
<br />
<br />Good luck!