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Quest Diagnostics Mutation Results (I Have 3!)

A

abloedel

New member
Quest Diagnostic Mutation Results

Hi all...well, as we have all suspected all along about my being a "freak" and all...it is now official! I apparently have 3 CF mutations. I guess one is attached (?) to my F508...but here they are...

F508, L206W and R668C

Timing wise, I gave up my blood sample Dec. 13th and just got the results today (January 27th). So, it seems it takes as long as Ambry, but at least my insurance covered this one! Once the bill is posted on my insurance company's website, I'll let you know how much they billed and how much was discounted.

I'll get the full report when I'm at a fax machine (I'm at training today), so if anyone wants information off of that, let me know and I'll pass it along.

Thanks again to Julie for telling me about the Quest test.
 
A

abloedel

New member
Quest Diagnostic Mutation Results

Hi all...well, as we have all suspected all along about my being a "freak" and all...it is now official! I apparently have 3 CF mutations. I guess one is attached (?) to my F508...but here they are...

F508, L206W and R668C

Timing wise, I gave up my blood sample Dec. 13th and just got the results today (January 27th). So, it seems it takes as long as Ambry, but at least my insurance covered this one! Once the bill is posted on my insurance company's website, I'll let you know how much they billed and how much was discounted.

I'll get the full report when I'm at a fax machine (I'm at training today), so if anyone wants information off of that, let me know and I'll pass it along.

Thanks again to Julie for telling me about the Quest test.
 
F

Faust

New member
WE ARE ALL MUTANTS WITH SUPER POWERS!!!


I AM BOOTY OIL MAN!!! FEAR MY STINKY ORANGE BOOTY OIL SLICKS!!!
 
F

Faust

New member
WE ARE ALL MUTANTS WITH SUPER POWERS!!!


I AM BOOTY OIL MAN!!! FEAR MY STINKY ORANGE BOOTY OIL SLICKS!!!
 
J

julie

New member
Sean, you really are a hoot! Thanks for a reeeeeeeeeeeeaaaaaaaaaaallllllyyyy good long laugh tonight!

Amy, glad you got your results. Very interesting, I guess the theory of having 2 cf mutations is now out the window...... Kind of like the child on this site (can't remember names) had a dad with 2 CF mutations but hadn't ever been diagnosed with CF (2 mutations found AFTER daughter was born) and a mom with NO CF mutations. Kid ends up with CF. Apparently she inherited both of her dad's chromosome 7's and none of her moms. And only chromosome 7.

you guys are weirdos (lets not even go into my issues!) <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
J

julie

New member
Sean, you really are a hoot! Thanks for a reeeeeeeeeeeeaaaaaaaaaaallllllyyyy good long laugh tonight!

Amy, glad you got your results. Very interesting, I guess the theory of having 2 cf mutations is now out the window...... Kind of like the child on this site (can't remember names) had a dad with 2 CF mutations but hadn't ever been diagnosed with CF (2 mutations found AFTER daughter was born) and a mom with NO CF mutations. Kid ends up with CF. Apparently she inherited both of her dad's chromosome 7's and none of her moms. And only chromosome 7.

you guys are weirdos (lets not even go into my issues!) <img src="i/expressions/face-icon-small-smile.gif" border="0">
 
A

abloedel

New member
Yes, we are weirdos. My husband said he didn't need a test to prove I was a freak; he already knew it! <img src="i/expressions/face-icon-small-wink.gif" border="0">

They said at the CF clinic, they see only one other patient with 3 mutations, and the one I have has apparently not been seen in the combination it's in, so I may be a case study.

The clinic explained it that the R668C sits on top of my F508 and acts as a modifer to the F508; that it could have made my CF more mild or more severe. They said they don't classify me as mild; so I guess it made mine more severe.

Maybe I should buy a powerball ticket today. Feels like I hit the (freak mutation) jackpot! I'll have to change my auto signature to say something about being a freak.

<img src="i/expressions/face-icon-small-smile.gif" border="0">
 
A

abloedel

New member
Yes, we are weirdos. My husband said he didn't need a test to prove I was a freak; he already knew it! <img src="i/expressions/face-icon-small-wink.gif" border="0">

They said at the CF clinic, they see only one other patient with 3 mutations, and the one I have has apparently not been seen in the combination it's in, so I may be a case study.

The clinic explained it that the R668C sits on top of my F508 and acts as a modifer to the F508; that it could have made my CF more mild or more severe. They said they don't classify me as mild; so I guess it made mine more severe.

Maybe I should buy a powerball ticket today. Feels like I hit the (freak mutation) jackpot! I'll have to change my auto signature to say something about being a freak.

<img src="i/expressions/face-icon-small-smile.gif" border="0">
 
A

abloedel

New member
Hi all....for those interested...just say the claim and payment of the Quest test. They billed my insurance $2500.00, and insurance "discounted" the test to $1509.00 and paid that amount in full. I'm not liable for the difference.
 
A

abloedel

New member
Hi all....for those interested...just say the claim and payment of the Quest test. They billed my insurance $2500.00, and insurance "discounted" the test to $1509.00 and paid that amount in full. I'm not liable for the difference.
 
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