Regarding the email sent to DNA labs as mentioned in this post, so far we have had 3 replies. One negative, one unclear (but presumably not so hopeful), and one quite positive.
Thank you for the suggestion and information. We will seriously consider adding this test (as a DNA test).It's difficult to know what to do next. for instance a 'campaign' may discourage them.
Molecular Genetics Laboratory
Department of Pathology
All Children's Hospital
801 Sixth St South
St Petersburg, FL 33701
There was also a less understandable reply from UCLA
Thanks for writing. We are well aware of this condition and have seen patients affected with it in our UCLA Medical Genetics Clinic. Regarding testing, at this point our Orphan Disease Laboratory is only set up to test for known familial mutations; we cannot do full-gene analysis. Requisition forms are available on our website for any of your contacts who wish to be tested.Anyone who finds out any further information about this subject, we would be most grateful to hear about it.
_______________________________
Divisions of Medical Genetics
and Molecular Pathology
Departments of Path. & Lab. Medicine,
Pediatrics, and Human Genetics
UCLA School of Medicine
Los Angeles, CA 90095-1732
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