Genetic Testing

Avatar for Cmmelissa
iVillage Member
Registered: 11-13-2008
Genetic Testing
1
Mon, 11-05-2012 - 6:00pm

I was reading an article from John Hopkins about how they do genetic testing on hypotonia patients to see if there are any underlying causes for the condition, here is a link if you would like to read it: http://www.hopkinschildrens.org/Treating-Hypotonia.aspx

Knowing if there are genetic factors helps with determining treatments, along with knowing other areas that may need to be monitored.

Has your child undergone genetic testing since being diagnosed?  

iVillage Member
Registered: 11-07-2012
Wed, 11-07-2012 - 9:44am

My son was diagnosed with hypotonia @ 3 wks old.   We had a muscle biopsy done at 4 weeks old.  It showed nothing so then we proceeded to do the genetic testing.  We did whole exome chromosone genetic testing.   It took 6 long week for it to come back and showed nothing.