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Old 03-14-2008, 08:42 PM   #1
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berrevoetsd HB User
Who is the genetic test done on?

Hi, I have seen alot of parents recommending people get the genetic test done to make sure because sometimes the other tests can come back negative. I was just wondering, is it a blood test? and is it done on the parents, or babies, or both?
thanks for the info.

 
Old 03-17-2008, 06:33 AM   #2
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Ratatosk HB UserRatatosk HB User
Re: Who is the genetic test done on?

The test would be done on the child. A sweat test used to be the gold standard, but it's not the case anymore. My child has cf and had a normal sweat test result. Genetic blood testing would test for CF; however, most of the tests only test for the most common mutations -- tests for less than 100 when there are over 1500 different genetic mutations for cf.

A sweat test might be a place to start, but if it comes back normal, IMO you should continue to push for further testing.

 
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Old 03-17-2008, 10:54 AM   #3
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Re: Who is the genetic test done on?

Thanks again, I'm so glad that I found this site, I feel that a parent living through a childs illness is more of an expert than most doctors would be, so this is really helpfull, seeing all of the examples and advice on here makes me want to push until everything comes back negative. I do not want to have her misdiagnosed, and then years later find out that she does have CF. Without your experiences being posted, I would take a doctors opinion that if something comes back negative, than that would be the end, and she's fine, which may not actually be the case. Although I'm praying that it is.

 
Old 03-26-2008, 10:27 PM   #4
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Re: Who is the genetic test done on?

Hi,
I had the cf test done when I was pregnant with my first child. It is a blood test. To my surprise it came back positive, meaning that I am a carrier but do not have the disease. So then my husband had to be tested because both parents have to be carriers to pass along the trait and that ratio is 1:4 that the baby would have cf. Luckily my husband is negative so there is no chance however, it is something that will be noted for my kids as they should be tested for carrier status so they have that info when they are old enough to have children themselves.
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Old 03-27-2008, 08:14 AM   #5
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Re: Who is the genetic test done on?

Again, with carrier testing, they only test the most popular genetic mutations -- 35-85 out of 1500. So if orginal testing is inconclusive, child is symptomatic -- I would encourage you to pursue more extensive tests -- ambry amplified or quest. I know of a CFer who later found that her child had CF because her husband ended up being a carrier -- a gene initial carrier screening didn't cover.

Last edited by Ratatosk; 03-27-2008 at 08:15 AM.

 
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