Disorders

ERCC8-Related Cockayne Syndrome

Synonym(s): Cockayne Syndrome Type A, CSA

Gene	Locus	Protein
ERCC8	5q12.1

Laboratory	Test Method	Prenatal	Carrier *
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA
CeGaT GmbH - Tuebingen, Germany
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany
diagenos - Osnabrueck, Germany
GGA - Galil Genetic Analysis - Kazerin, Israel
Medgene, MedGene - Bratislava, Slovakia
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA
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
Southmead Hospital - Pathology Sciences, Bristol Genetics Laboratory - North Bristol NHS Trust - Bristol, Great Britain
University of Oklahoma Health Sciences Center, Genetics Laboratory - Oklahoma City, OK, 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.