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Positive Sweat Test but No Gene Mutations

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Old 07-14-2010, 05:48 PM   #1
Join Date: Jul 2010
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XiMaker HB User
Positive Sweat Test but No Gene Mutations

Doctors are Stumped!!! - My Son, 17 yrs old has been having stomach cramping at randome times through the day but also right after eating or even during eating we can see he is in pain. so we have been trying to figure out the problem. We finally had a Sweat test which showed 70 one time and 72 another indicating positive for CF. Stool samples indicate pancreas sufficent and the Ambrey Genetic testing shows NO mutations. Doctors have not ruled out CF but have not come up with a diagnosis. just wanting input from anyone that has information that may help.

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Old 07-15-2010, 06:25 AM   #2
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Join Date: Nov 2003
Location: Midwest
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Ratatosk HB UserRatatosk HB User
Re: Positive Sweat Test but No Gene Mutations

Could be that they only tested the most common mutations instead of ambry amplified. There are over 1500 cf mutations. So I would ask how many mutations they tested for, if they did deletion and sequencing testing as well. Could be as well it's a mutation yet to be determined.

In any event, I would hope that your doctor would at least TREAT the symptoms, treat your son as if he HAD CF or come up with another diagnosis...

Old 11-17-2010, 01:17 AM   #3
Join Date: Nov 2010
Location: California
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Powerofhope HB User
Re: Positive Sweat Test but No Gene Mutations

The full screening cannot detect all mutations. There are mutations of CF that are found on other portions of the DNA strand that are not identifiable. If your child has the symptoms, with 2 high sweat chloride test, and responds to medication and treatment that IS a diagnosis of CF.

My daughter is in the same boat and was diagnosed back in 2005.

Last edited by moderator2; 11-17-2010 at 04:00 AM. Reason: please do not post websites except as described in the Posting Policy

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