What does it mean when a child has two 5t mutations?

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cherishthree

New member
 Any time I read about the 5t mutation it only says one copy
my children have two copies. My children are getting ready to
have a larger panel run on them for more mutations if the insurance
will pay for it. But I do know they both have two copies of 5t in
intron 8. They are also going to have a t5 tracking because they
say if you have 12 or more then that means CF also. But I was
wondering if anybody else had this or heard of it. they do get
treatment at a CF center in Philly and both use the vest since
June( Insurance just denied coverage for that also). I just really
do not know any more what we are dealing with!! Please advise if
you know anything on this subject.<br>
 Thanks, Kathy<br>
Hannah  6years atypical CF<br>
Christopher 10 atypical CF<br>
Emily 12<br>
<br>
<br>
<br>
 
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dyza

New member
not too sure about what you are trying to ask here.
<a target=_blank class=ftalternatingbarlinklarge href="http://www.cysticfibrosismedicine.com/CFdocs/CFText/gene.htm
">http://www.cysticfibrosismedic...Fdocs/CFText/gene.htm
</a>
hope this may shed some light on the 5T Classes. Remember nothing is written in stone when it comes to what gene does what.
 
C

cherishthree

New member
Craig,<br>
Thanks for answering my post. I am sorry for not being clear I have
a habit of doing that when I post . What I am asking is you need 2
mutations for cf then is 2 copies of 5t alone cf causing?
 Some say yes but our insurance is giving a hard time paying
for some things like pulmozyme and the vest.   Thanks,
Kathy<br>
P.S. Thanks for the info is was helpful!!!<br>
<br>
 
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dyza

New member
right understand now.

Not too sure but i know there are some on here who have 2 DF508, unsure of their 5T but they are all different, I myself have two RH117 7T genes and I have not been DX.
 
A

anonymous

New member
Dyza,

The 5T can act like a mild mutation. If combined with another mutation it can cause an typical form of CF. The TG tract is what you were referring to and yes the higher the number the more significant the 5T becomes.

The kids should definitely have a comprehensive test that also checks the TG tract. Those results might help clarify what is going on.

I hope that helps.

Steve
 
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cherishthree

New member
Steve ,<br>
<br>
We have a appointment in two weeks at the clinic. They are going to
do blood work for 5t tracking and a duplication /deletion analysis?
I was just hoping it would be a little easier since they have
already had the full 900 sequence test done by quest that is where
they found the two copies of 5t. I am thankful it is not classic Cf
in the terms of having the full disease but at the same time I am
not so sure that they do not as of yet. thanks for listening. Kathy
 
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