Thread: Do you have a chronic disease or know someone that does?
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Old 07-28-2013, 02:11 PM  
baddog
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Join Date: Apr 2001
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Quote:
Originally Posted by Mutt View Post
How is the diagnosis confirmed?

The diagnosis of biotinidase deficiency can be confirmed by testing a blood sample to determine the biotinidase enzyme activity level. Genetic testing to look for mutations in the BTD gene may also assist in confirming the diagnosis. Diagnostic testing is arranged by specialists at your regional treatment centre.

Has goodgirl had the blood test for biotinidase enzyme activity yet?

This is a genetic disorder that is screened for at birth but the symptoms can show up later in life.
We are seeking a place to have a gene test done now. I am hoping my connections at 23andme can help. Will call them tomorrow.
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