mutations

pinkyjlb

New member
I am 17 weeks pregnant and I just found out that I am a cf carrier and I have a mutated gene. The mutation that I have is R117H and I am trying to find some information on it. If anyones knows anything about it please let me know.
Thanks, pinkyjlb
 

Emily65Roses

New member
Has your husband / the father of the child been tested? If he's not a carrier, you don't have a problem. But I'm sorry, I don't know anything about that mutation.
 

BaylorCrew07

New member
I have that mutation, but I don't know much about it. <img src="i/expressions/face-icon-small-confused.gif" border="0"> I think on my genetic report it said that it was a known mild mutation or something like that? I'm not sure though, sorry!

Debra
 

Jennifer11

New member
Hi Pinky,
When your hubby or b/f gets tested make sure that he specifically says to be tested for all mutations that are possible to be tested for. I found out I was a carrier for the most common DeltaF508 during my pregnancy, and my b/f got tested and came back negative. After I had my daughter, I got a call from her Dr. telling me that something came up in her bloodwork with CF, and I had to bring her to Hershey Childrens Hospital. They couldn't get a sweat test result the first time around, so during the counceling session they set up a heel prick, where they draw blood from the baby. Two weeks ago I got a call from the Dr. at Hershey telling me she has CF, that she carries DF508 and L997F. L997F is a rare mutation, and then I found out when my b/f got tested, they only tested him for the 80 most common gene mutations, not the rare. So please ask him to get tested for all. I know that a lot of phlebotomists go through different labs for the bloodwork. Find out which lab the place your hubby goes to and where they send the bloodwork. Ambry Genetics tests for all mutations, I know that now.
 

anonymous

New member
Well, I hope he'll be healthy. I don't really know, I've never had a kid, and I'm not married, and I doubt I will be for a while.
But I hope it goes well!<img src="i/expressions/face-icon-small-happy.gif" border="0">
When I first read the title, I thought you meant mutations for us, and I'm like, "What? two heads? eight arms? giant muscles?"
lol

PS
I know I'm a cold person, but I think this post has been my friendliest so far!
-Voriki, Toa of Energy
 

julie

New member
I use to highly recommend ambry genetics, but have recently discovered that Quest Diagnostics (a lab many doctors/insurance companies are familiar with) also has a CF mutations test. I posted a bit about it in the adult section, you might want to take a look at that. Many people have problems with Ambry because of insurance (the company is great, don't get me wrong, but it took me 6-8 weeks to get all the paperwork, preapproval......).
 
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