Disorders


 

Cherubism


 

GeneReviewOMIM

GeneLocusProtein
SH3BP24p16.3SH3 domain-binding protein 2

Laboratory Test Method Prenatal Carrier *
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands• Sequence analysis of select exons
  
diagenos - Osnabrueck, Germany• Sequence analysis of select exons
  
GeneDx - Gaithersburg, MD, USA• Sequence analysis of select exons
 
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland• Sequence analysis of the entire coding region
 
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of select exons
 
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada• Sequence analysis of the entire coding region
 

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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