Ambry genetics test recommended

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New Member

Date Joined Oct 2006
Total Posts : 11
   Posted 11/2/2006 11:52 AM (GMT -6)   
I had posted about my daughter being unable to sweat for a sweat chloride test.  Her doctors asked us to repeat it again and the facility we used was a certified facility.  We tried it twice both arms being utilized each time and even if they combined the sweat collected, it still would not have equalled 15 microliters. Her doctors hae decided after six failed attempts, she falls into a category of the population that less than five percent share-the inability to sweat for the sweat chloride.  With that said, they have recommended we do the Ambry genetics test.  Her carrier test was negative.  I called my insurance company and they will approve this test.  The other option they gave is called a Nasal Potential and it involves placing electrodes in the nasal cavity and somwhow this mimics the lung tissue and they are getting info like that.  UNC at Chapel Hill does this experimental study but it is not approved by my insurance for her.I am hoping we get some answer from this.  She had atelectasis recently and it took greater than a month to heal.  Thanks for listening!

Post Edited (kmsmom3) : 11/3/2006 6:35:49 AM (GMT-7)

Regular Member

Date Joined Apr 2006
Total Posts : 105
   Posted 11/4/2006 9:35 AM (GMT -6)   

Hello kmsmom!  I hope you do get some answers soon.  Not every state performs the NPD and I heard that it is uncomfortable for children.

How is your daughter's weight and did she have a fecal fat test/elastase done?

Steve at is very helpful and could answer some questions for you.  He is usually very good with answering you back.

Good luck and hugs!

Be who you are and say what you feel, because those who mind don't matter and those who matter don't mind. ~Dr. Seuss

New Member

Date Joined Oct 2006
Total Posts : 11
   Posted 11/4/2006 5:01 PM (GMT -6)   
She weighs 42lbs down from 46lbs.  She weighs only 4lbs more than my son(she is 5 he is 3)  She has not had a fecal test.  This coming thursday they are going to do an EGD to see if her problem may lie there as we wait on the Ambry test results to come back.  Thanks for you info!
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