Questions about mutations

katiemom · Feb 12, 2008

Steve, I have some questions about the mutations my daughter has, she is one of those you mentioned in another post that has more than 2 mutations. She recently had the Ambry testing and tested positve for 5'UTR-680T>G, (TG)11-5T and (TG)11-7T. We have an appointment tomorrow with our care center for our first visit but I wanted some extra info on these mutations. I have read your posts that the 5T mutation with 11 repeats yields a milder form but what about the 7T with 11 repeats. What does that one mean when it is seen along with the other two? Just wondering what you could tell me about these mutations. Thanks

katiemom · Feb 12, 2008

Steve, I have some questions about the mutations my daughter has, she is one of those you mentioned in another post that has more than 2 mutations. She recently had the Ambry testing and tested positve for 5'UTR-680T>G, (TG)11-5T and (TG)11-7T. We have an appointment tomorrow with our care center for our first visit but I wanted some extra info on these mutations. I have read your posts that the 5T mutation with 11 repeats yields a milder form but what about the 7T with 11 repeats. What does that one mean when it is seen along with the other two? Just wondering what you could tell me about these mutations. Thanks

katiemom · Feb 12, 2008

Steve, I have some questions about the mutations my daughter has, she is one of those you mentioned in another post that has more than 2 mutations. She recently had the Ambry testing and tested positve for 5'UTR-680T>G, (TG)11-5T and (TG)11-7T. We have an appointment tomorrow with our care center for our first visit but I wanted some extra info on these mutations. I have read your posts that the 5T mutation with 11 repeats yields a milder form but what about the 7T with 11 repeats. What does that one mean when it is seen along with the other two? Just wondering what you could tell me about these mutations. Thanks

katiemom · Feb 12, 2008

Steve, I have some questions about the mutations my daughter has, she is one of those you mentioned in another post that has more than 2 mutations. She recently had the Ambry testing and tested positve for 5'UTR-680T>G, (TG)11-5T and (TG)11-7T. We have an appointment tomorrow with our care center for our first visit but I wanted some extra info on these mutations. I have read your posts that the 5T mutation with 11 repeats yields a milder form but what about the 7T with 11 repeats. What does that one mean when it is seen along with the other two? Just wondering what you could tell me about these mutations. Thanks

katiemom · Feb 12, 2008

Steve, I have some questions about the mutations my daughter has, she is one of those you mentioned in another post that has more than 2 mutations. She recently had the Ambry testing and tested positve for 5'UTR-680T>G, (TG)11-5T and (TG)11-7T. We have an appointment tomorrow with our care center for our first visit but I wanted some extra info on these mutations. I have read your posts that the 5T mutation with 11 repeats yields a milder form but what about the 7T with 11 repeats. What does that one mean when it is seen along with the other two? Just wondering what you could tell me about these mutations. Thanks

Alyssa · Feb 12, 2008