Disorders

Branchiooculofacial Syndrome

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

Gene	Locus	Protein
TFAP2A	6pter-p22.3	Transcription factor AP-2-alpha

Laboratory	Test Method	Prenatal	Carrier *
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany
Center for Human Genetics, Inc - Cambridge, MA, USA
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands

^* 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.