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Thread: Double R117H

  1. #1

    Double R117H

    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

    0 Not allowed!

  2. #2

    Double R117H

    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

    0 Not allowed!

  3. #3

    Double R117H

    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

    0 Not allowed!

  4. #4

    Double R117H

    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

    0 Not allowed!

  5. #5

    Double R117H

    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

    0 Not allowed!

  6. #6

    Double R117H

    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"> .

    0 Not allowed!

  7. #7

    Double R117H

    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"> .

    0 Not allowed!

  8. #8

    Double R117H

    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"> .

    0 Not allowed!

  9. #9

    Double R117H

    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"> .

    0 Not allowed!

  10. #10

    Double R117H

    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"> .

    0 Not allowed!

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