Disorders


 

Branchiooculofacial Syndrome


Synonym(s): BOF Syndrome, Branchio-oculo-facial Syndrome

 

GeneReviewOMIM

GeneLocusProtein
TFAP2A6pter-p22.3Transcription factor AP-2 alpha

Laboratory Test Method Prenatal Carrier *
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany• Sequence analysis of the entire coding region
 
Center for Human Genetics, Inc - Cambridge, MA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands• 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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