What is a 7t-9t variance

M

momofva

New member
We just got my daughters<span>Amby Test results back .
It said that she came back for one delta f508. Which we already knew she had this from the newborn screening test.
It also said that the has a 7t-9t variance. Her pedi said she was going to conact childrens to fing out what this was becuase she does not know.
Can someone tell me if she does or does not have it. I have tried searching but could not find anything.
Thanks
 
M

momofva

New member
We just got my daughters<span>Amby Test results back .
It said that she came back for one delta f508. Which we already knew she had this from the newborn screening test.
It also said that the has a 7t-9t variance. Her pedi said she was going to conact childrens to fing out what this was becuase she does not know.
Can someone tell me if she does or does not have it. I have tried searching but could not find anything.
Thanks
 
B

Beccamom

New member
I posted a similar question to Steve at Ambry on this site. I am not a medical person, but my understanding is that 7T and 9T are thought to NOT be disease causing. A 5T variant with a disease causing genetic mutation is thought to cause a mild CF. If you have one CF causing gene and 7T/9T variants then the person should be a CF carrier. However, keep in mind that there is the possibility of an unknown gene. If your daughter has symptoms then look into a sweat test or possibly a nasal potential difference test. Hopefully she is healthy and you just did the Ambry test because the one DF508 was found in the newborn screening.

Best wishes,
Jen
 
B

Beccamom

New member
I posted a similar question to Steve at Ambry on this site. I am not a medical person, but my understanding is that 7T and 9T are thought to NOT be disease causing. A 5T variant with a disease causing genetic mutation is thought to cause a mild CF. If you have one CF causing gene and 7T/9T variants then the person should be a CF carrier. However, keep in mind that there is the possibility of an unknown gene. If your daughter has symptoms then look into a sweat test or possibly a nasal potential difference test. Hopefully she is healthy and you just did the Ambry test because the one DF508 was found in the newborn screening.

Best wishes,
Jen
 
H

Havoc

New member
This was discussed on another thread on the forum. You might find it helpful.

http://forums.cysticfibrosis.com/messageview.cfm?catid=902&threadid=48870
 
H

Havoc

New member
This was discussed on another thread on the forum. You might find it helpful.

http://forums.cysticfibrosis.com/messageview.cfm?catid=902&threadid=48870
 
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