Disorders

GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness

Synonym(s): DFNB 1A, DFNB1A, GJB2-Related DFNB1 Nonsyndromic Hearing Loss and Deafness

Gene	Locus	Protein
GJB2	13q11-q12	Gap junction beta-2 protein

Laboratory	Test Method	Prenatal	Carrier *
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA	• Targeted mutation analysis
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia	• Targeted mutation analysis
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA
ATS GeneTech Private Limited, GeneTech - Hyderabad, India	• Sequence analysis of select exons
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA
Burc Molecular Genetics Laboratory - Istanbul, Turkey
CeGaT GmbH - Tuebingen, Germany
Center for Genetics at Saint Francis, Genetics Laboratory - Tulsa, OK, USA
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Centre for Cellular and Molecular Biology, Molecular Diagnostics Division - Hyderabad, India
CGC Genetics - Porto, Portugal
Children's Hospital of Eastern Ontario, Molecular Genetics Diagnostic Laboratory - Ottawa, Canada
Children's University Hospital, Human Genetics - Berne, Switzerland	• Mutation scanning of the entire coding region
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
Cologne University, Institute of Human Genetics - Cologne, Germany
Cyprus Institute of Neurology and Genetics, Molecular Genetics, Function and Therapy - Nicosia, Cyprus	• Targeted mutation analysis
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
Diagnostic Services of Manitoba, Health Sciences Centre site, Molecular Diagnostic Laboratory - Winnipeg, Canada
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel	• Targeted mutation analysis
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
Faculty of Medicine, Pontificia Universidad Católica de Chile, Molecular Genetics and Cytogenetics, Clinical Laboratory Service - Santiago, Chile
GENDA - Ciudad autonoma de Buenos Aires, Argentina	• Targeted mutation analysis
Genetic Diagnosis and Research Center, Genetiks - Istanbul, Turkey
Genexpress Ltd, Molecular Genetics Laboratory - Bratislava, Slovakia	• Targeted mutation analysis
GENNET s.r.o., Laboratory of Molecular Genetics - Prague, Czech Republic
GGA - Galil Genetic Analysis - Kazerin, Israel
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA
Harvard Medical School and Partners Healthcare, Laboratory for Molecular Medicine - Cambridge, MA, USA
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada
HUSLAB, Laboratory of Genetics - Helsinki, Finland	• Targeted mutation analysis
Institute of Medical Genetics, All Wales Molecular Genetics Laboratory - Cardiff, Great Britain
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain	• Targeted mutation analysis
IWK Health Centre, Molecular Diagnostic Laboratory - Halifax, Canada	• Sequence analysis of select exons
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
LabCorp, Molecular Biology - Research Triangle Park, NC, USA
London Health Sciences Centre, Molecular Diagnostic Laboratory - London, Canada
McGill University Health Centre, Molecular Genetics Laboratory - Montreal, Canada
Medgene, MedGene - Bratislava, Slovakia
National University Hospital, Molecular Diagnosis Centre - Department of Laboratory Medicine - Singapore, Singapore
Nucleo de Genetica Medica de Minas Gerais, GENE - Belo Horizonte, Brazil	• Targeted mutation analysis
Oregon Health and Science University, Knight Diagnostic Laboratories - Molecular Diagnostic Center - Portland, OR, USA
Praxis fuer Humangenetik Wien - Vienna, Austria
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel
Providence Sacred Heart Medical Center and Children's Hospital, Department of Laboratory Medicine/Molecular Diagnostic Division - Spokane, WA, USA
Rabin Medical Center, Molecular Genetics - Petah Tikva, Israel	• Targeted mutation analysis
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
Ruhr University, Human Genetics - Bochum, Germany
Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea
Shaare Zedek Medical Center, Medical Genetics Institute - Jerusalem, Israel	• Targeted mutation analysis • Linkage analysis
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India	• Targeted mutation analysis
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain	• Targeted mutation analysis
Stanford Clinical Laboratories, Molecular Pathology Laboratory - Palo Alto, CA, USA
Tulane University School of Medicine, Hayward Genetics Center Molecular Diagnostics Laboratory - New Orleans, LA, USA	• Targeted mutation analysis
United States Air Force, DNA Diagnostic Laboratory - Keesler AFB, MS, USA
University Children's Hospital, Labor Molekulargenetik, Abteilung Medizinische Genetik - Basel, Switzerland
University Hospital Lausanne, DNA Diagnostic Laboratory - Service de Génétique Médicale - Lausanne, Switzerland
University Hospital of Antwerp, Department of Medical Genetics - Wuyts Lab - Edegem, Belgium
University Hospital Ostrava, DNA Diagnostics Laboratory - Ostrava, Czech Republic	• Targeted mutation analysis
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory - Cleveland, OH, USA
University of Alberta, Molecular Diagnostic Laboratory - Edmonton, Canada
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA	• Targeted mutation analysis
University of Iowa Hospital and Clinics, Molecular Otolaryngology and Renal Research Laboratories - Iowa City, IA, USA
University of Michigan, Michigan Medical Genetics Laboratories - Ann Arbor, MI, USA
University of North Carolina Hospitals, Molecular Genetics - Chapel Hill, NC, USA
University of Turku, Diagnostic DNA Laboratory - Turku, Finland

^* 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.