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International Birth Defects Information System


DNA Specimen Requirements
 
Angelman Syndrome  
(uniparental disomy testing) 
 		 Draw at least 5cc whole blood in lavender-top from patient as well as each parent. 
 
Azoospermia/oligozoospermia 
(Yq deletion) 
 		 Draw 10cc whole blood in lavender-top 
 
Bone marrow engrafting testing 
 		 Please call us before sending specimen. 
 
DNA isolation and banking 
 		 Please call us before sending specimen. 
 
Factor V mutation 
 		 Draw 10cc whole blood in lavender-top 
 
Fragile X syndrome 
 		 Draw at least 5cc whole blood in lavender-top 
 
Huntington's disease 
(affected only) 
 		 Draw 10cc whole blood in lavender-top 
 
Lymphoblast transformation 
 		 Please call us before sending specimen. 
 
Prader-Willi syndrome/Angelman  
syndrome methylation studies 
 		 Draw at least 5cc whole blood in lavender-top 
from patient as well as each parent 
 
Sickle cell disease 
 		 Please call us before sending specimen. 
 
Y-chromosome identification 
(sex chromosome indentification)		 Please call us before sending specimen.

For more information please call us or  email  us .


University of South Alabama
 Birth Defects Genetics Center - Mobile, Alabama 36688-0002 / 251-460-7500
For questions or comments contact us or call toll free 1-800-624-1865
Date last changed: August 4, 2004
http://www.southalabama.edu/genetics