Disorders

Roberts Syndrome

Synonym(s): Pseudothalidomide Syndrome, Roberts-SC (Pseudothalidomide), Roberts-SC Phocomelia Syndrome, SC Phocomelia Syndrome, SC-Phocomelia Syndrome

GeneReview OMIM

Gene	Locus	Protein
ESCO2	8p21.1	N-acetyltransferase ESCO2

Laboratory	Test Method	Prenatal	Carrier *
bio.logis Center for Human Genetics - Frankfurt, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory (DNA Division) - New York, NY, USA
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, 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.