Disorders

Cohen Syndrome

Gene	Locus	Protein
VPS13B	8q22-q23	Vacuolar protein sorting-associated protein 13B

Laboratory	Test Method	Prenatal	Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA
CeGaT GmbH - Tuebingen, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
CGC Genetics - Porto, Portugal	• Targeted mutation analysis
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GeneDx - Gaithersburg, MD, USA	• Targeted mutation analysis
GENESIS Center for Medical Genetics, Laboratory of Molecular Genetics - Poznan, Poland
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Sequence analysis of select exons
GGA - Galil Genetic Analysis - Kazerin, Israel
HUSLAB, Laboratory of Genetics - Helsinki, Finland	• Targeted mutation analysis
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Medgene, MedGene - Bratislava, Slovakia
Praxis fuer Humangenetik Wien - Vienna, Austria
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel
University of Greifswald, Institute of Human Genetics - Greifswald, Germany

^* 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.