how were you genotyped

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musclemania70

New member
after reading this post from Angie
<a href="http://runsickboyrun.blogspot.com/2012/04/start-of-my-kalydeco-journey.html">http://runsickboyrun.blogspot.com/2012/04/start-of-my-kalydeco-journey.html</a>
i wonder how many people have been incorrectly genotyped back when they were doing throat swabs in the 90's.
as a ddf508 does this make anyone else want to be re-tested? or am i being ridiculous?
 
M

musclemania70

New member
after reading this post from Angie
<a href="http://runsickboyrun.blogspot.com/2012/04/start-of-my-kalydeco-journey.html">http://runsickboyrun.blogspot.com/2012/04/start-of-my-kalydeco-journey.html</a>
i wonder how many people have been incorrectly genotyped back when they were doing throat swabs in the 90's.
as a ddf508 does this make anyone else want to be re-tested? or am i being ridiculous?
 
M

moxie1

Guest
They did a cheek swab on me back in the 80's. I also saw this post today and am going to ask my doctor to recheck mine.
I think you would be crazy not to have it redone. If you are a mutation that Kalydeco might benefit it could be life-changing. Either or, at least you know for sure.
When you are doing clinical trials, do they genotype you even if you've had it done?
 
M

moxie1

Guest
They did a cheek swab on me back in the 80's. I also saw this post today and am going to ask my doctor to recheck mine.
I think you would be crazy not to have it redone. If you are a mutation that Kalydeco might benefit it could be life-changing. Either or, at least you know for sure.
When you are doing clinical trials, do they genotype you even if you've had it done?
 
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beleache

New member
Hmmm, That is a good question.. I was dxd 16 yrs. ago at the age of 44. The first time i was genotyped was through blood work & they found the DeltaF508, the other mutation couldn't be identified at that time. More recently I was typed again & they found my other mutation. I would want to know. esp where you may qualify for certain drugs.
 
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beleache

New member
Hmmm, That is a good question.. I was dxd 16 yrs. ago at the age of 44. The first time i was genotyped was through blood work & they found the DeltaF508, the other mutation couldn't be identified at that time. More recently I was typed again & they found my other mutation. I would want to know. esp where you may qualify for certain drugs.
 
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musclemania70

New member
two interesting links that were posted on the fb site

http://www.cdc.gov/genomics/gtesting/file/print/FBR/CFAnaVal.pdf

http://www.acmg.net/Pages/ACMG_Activities/stds-2002/cf.htm

for those who want to be re-tested you may want to show your doc
 
M

musclemania70

New member
two interesting links that were posted on the fb site

http://www.cdc.gov/genomics/gtesting/file/print/FBR/CFAnaVal.pdf

http://www.acmg.net/Pages/ACMG_Activities/stds-2002/cf.htm

for those who want to be re-tested you may want to show your doc
 
B

bigstar

New member
I had the same thoughts too. But being diagnosed as ddf508 isnt valid enough? isnt it beyond doubt even though its been 20 years?
 
B

bigstar

New member
I had the same thoughts too. But being diagnosed as ddf508 isnt valid enough? isnt it beyond doubt even though its been 20 years?
 
A

Aboveallislove

Super Moderator
I've been pondering this the last couple days and had a thought to throw out. It would seem that blood work must be more accurate and if you had a previous diagnosis without blood work as dd508, why not just ask doctor for them to look for that gene. That won't be expensive (i.e., doctor and insurance company more willing to go along) and if it comes back dd508 you know, but on the chance that you might be "lucky" enough to have a gating mutation you'll be able to do Kalydeco.
 
A

Aboveallislove

Super Moderator
I've been pondering this the last couple days and had a thought to throw out. It would seem that blood work must be more accurate and if you had a previous diagnosis without blood work as dd508, why not just ask doctor for them to look for that gene. That won't be expensive (i.e., doctor and insurance company more willing to go along) and if it comes back dd508 you know, but on the chance that you might be "lucky" enough to have a gating mutation you'll be able to do Kalydeco.
 
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