Disorders

Hidrotic Ectodermal Dysplasia 2

Synonym(s): Clouston Hidrotic Ectodermal Dysplasia, Clouston Syndrome

Gene	Locus	Protein
GJB6	13q12	Gap junction beta-6 protein

Laboratory	Test Method	Prenatal	Carrier *
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA
ATS GeneTech Private Limited, GeneTech - Hyderabad, India	• Sequence analysis of select exons • Targeted mutation analysis
CeGaT GmbH - Tuebingen, Germany
CGC Genetics - Porto, Portugal
Children's Hospital of Eastern Ontario, Molecular Genetics Diagnostic Laboratory - Ottawa, Canada
Diagnostic Services of Manitoba, Health Sciences Centre site, Molecular Diagnostic Laboratory - Winnipeg, Canada
GeneDx - Gaithersburg, MD, USA	• Sequence analysis of select exons
Harvard Medical School and Partners Healthcare, Laboratory for Molecular Medicine - Cambridge, MA, USA
Institute of Medical Genetics, All Wales Molecular Genetics Laboratory - Cardiff, Great Britain
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
McGill University Health Centre, Molecular Genetics Laboratory - Montreal, Canada	• Targeted mutation analysis
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland	• Targeted mutation analysis
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands	• Sequence analysis of select exons
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory - Cleveland, OH, USA
University of Alberta, Molecular Diagnostic Laboratory - Edmonton, Canada

^* 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.