Double R117H

[kabowser]

Steve,

My grandson recieved a positive NBS of R117H/R117H, was sent for Sweat Test which came back "perfectly normal"... "not even borderline..." per the MD. However, "due to the presence of two mutations" a diagnosis of CF was issued. He is asymptomatic at this time, but the MD says the diagnosis of CF if definite. She wants to do more testing soon which she says will tell us more about his mutations. I suspect this is to determine poly T variance.

I read where there mwas a post back in March 2007 from a gentleman who had this double mutation.

Do you have any new information for me?

Ally

 

[kabowser]

Steve,

My grandson recieved a positive NBS of R117H/R117H, was sent for Sweat Test which came back "perfectly normal"... "not even borderline..." per the MD. However, "due to the presence of two mutations" a diagnosis of CF was issued. He is asymptomatic at this time, but the MD says the diagnosis of CF if definite. She wants to do more testing soon which she says will tell us more about his mutations. I suspect this is to determine poly T variance.

I read where there mwas a post back in March 2007 from a gentleman who had this double mutation.

Do you have any new information for me?

Ally

 

[kabowser]

Steve,

My grandson recieved a positive NBS of R117H/R117H, was sent for Sweat Test which came back "perfectly normal"... "not even borderline..." per the MD. However, "due to the presence of two mutations" a diagnosis of CF was issued. He is asymptomatic at this time, but the MD says the diagnosis of CF if definite. She wants to do more testing soon which she says will tell us more about his mutations. I suspect this is to determine poly T variance.

I read where there mwas a post back in March 2007 from a gentleman who had this double mutation.

Do you have any new information for me?

Ally

 

[kabowser]

Steve,

My grandson recieved a positive NBS of R117H/R117H, was sent for Sweat Test which came back "perfectly normal"... "not even borderline..." per the MD. However, "due to the presence of two mutations" a diagnosis of CF was issued. He is asymptomatic at this time, but the MD says the diagnosis of CF if definite. She wants to do more testing soon which she says will tell us more about his mutations. I suspect this is to determine poly T variance.

I read where there mwas a post back in March 2007 from a gentleman who had this double mutation.

Do you have any new information for me?

Ally

 

[kabowser]

Steve,

My grandson recieved a positive NBS of R117H/R117H, was sent for Sweat Test which came back "perfectly normal"... "not even borderline..." per the MD. However, "due to the presence of two mutations" a diagnosis of CF was issued. He is asymptomatic at this time, but the MD says the diagnosis of CF if definite. She wants to do more testing soon which she says will tell us more about his mutations. I suspect this is to determine poly T variance.

I read where there mwas a post back in March 2007 from a gentleman who had this double mutation.

Do you have any new information for me?

Ally

 

[AnD]

You may want to move this to the "Welcome to Ambry Genetics" thread, if you want a specific answer from Steve there <img src="i/expressions/face-icon-small-wink.gif" border="0"> .

 

[AnD]

You may want to move this to the "Welcome to Ambry Genetics" thread, if you want a specific answer from Steve there <img src="i/expressions/face-icon-small-wink.gif" border="0"> .

 

[AnD]

You may want to move this to the "Welcome to Ambry Genetics" thread, if you want a specific answer from Steve there <img src="i/expressions/face-icon-small-wink.gif" border="0"> .

 

[AnD]

You may want to move this to the "Welcome to Ambry Genetics" thread, if you want a specific answer from Steve there <img src="i/expressions/face-icon-small-wink.gif" border="0"> .

 

[AnD]

You may want to move this to the "Welcome to Ambry Genetics" thread, if you want a specific answer from Steve there <img src="i/expressions/face-icon-small-wink.gif" border="0"> .

 

[kabowser]

I did what you said. Thanks for the advice.

Ally

 

[kabowser]

I did what you said. Thanks for the advice.

Ally

 

[kabowser]

I did what you said. Thanks for the advice.

Ally

 

[kabowser]

I did what you said. Thanks for the advice.

Ally

 

[kabowser]

I did what you said. Thanks for the advice.

Ally

 

[dyza]

Not many people call me a gentleman, but it could well be myself that you are thinking of. Check out my blog, there are various entries in there about my double mutations.

Craig

 

[dyza]

Not many people call me a gentleman, but it could well be myself that you are thinking of. Check out my blog, there are various entries in there about my double mutations.

Craig

 

[dyza]

Not many people call me a gentleman, but it could well be myself that you are thinking of. Check out my blog, there are various entries in there about my double mutations.

Craig

 

[dyza]

Not many people call me a gentleman, but it could well be myself that you are thinking of. Check out my blog, there are various entries in there about my double mutations.

Craig

 

[dyza]

Not many people call me a gentleman, but it could well be myself that you are thinking of. Check out my blog, there are various entries in there about my double mutations.

Craig