Disorders

EP300-Related Rubinstein-Taybi Syndrome

Synonym(s): EP300-Related Broad Thumbs-Hallux Syndrome

Gene	Locus	Protein
EP300	22q13.2	Histone acetyltransferase p300

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany
CGC Genetics - Porto, Portugal
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
Leiden University Medical Center, Laboratory for Diagnostic Genome Analysis - Leiden, Netherlands
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA

^* 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.