Disorders


 

GJB6-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness


Synonym(s): DFNB 1B, DFNB1B, GJB6-Related DFNB1 Nonsyndromic Hearing Loss and Deafness

 

OMIM

GeneLocusProtein
GJB613q12Gap junction beta-6 protein

Laboratory Test Method Prenatal Carrier *
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA• Targeted mutation analysis
  
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA• Targeted mutation analysis
  
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia• Targeted mutation analysis
  
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Targeted mutation analysis
  
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA• Targeted mutation analysis
  
CeGaT GmbH - Tuebingen, Germany  
Center for Genetics at Saint Francis, Genetics Laboratory - Tulsa, OK, USA• Targeted mutation analysis
  
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany• Targeted mutation analysis
  
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany  
Center for Human Genetics, Inc - Cambridge, MA, USA• Targeted mutation analysis
  
Centogene AG, Rare Disease Company - Rostock, Germany  
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• Targeted mutation analysis
  
Cologne University, Institute of Human Genetics - Cologne, Germany• Targeted mutation analysis
  
Cyprus Institute of Neurology and Genetics, Molecular Genetics, Function and Therapy - Nicosia, Cyprus• Targeted mutation analysis
  
Diagnostic Services of Manitoba, Health Sciences Centre site, Molecular Diagnostic Laboratory - Winnipeg, Canada  
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany• Targeted mutation analysis
  
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• Targeted mutation analysis
  
Harvard Medical School and Partners Healthcare, Laboratory for Molecular Medicine - Cambridge, MA, USA• Targeted mutation analysis
  
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada  
Institute of Medical Genetics, All Wales Molecular Genetics Laboratory - Cardiff, Great Britain• Targeted mutation analysis
  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
London Health Sciences Centre, Molecular Diagnostic Laboratory - London, Canada• Targeted mutation analysis
  
McGill University Health Centre, Molecular Genetics Laboratory - Montreal, Canada• Targeted mutation analysis
  
Medgene, MedGene - Bratislava, Slovakia  
National University Hospital, Molecular Diagnosis Centre - Department of Laboratory Medicine - Singapore, Singapore  
Nationwide Children's Hospital, ChildLab Molecular Genetics Laboratory - Columbus, OH, USA• Targeted mutation analysis
  
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA• FISH-metaphase
  
Praxis fuer Humangenetik Wien - Vienna, Austria  
Providence Sacred Heart Medical Center and Children's Hospital, Department of Laboratory Medicine/Molecular Diagnostic Division - Spokane, WA, USA• Targeted mutation analysis
  
Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA  
Shaare Zedek Medical Center, Medical Genetics Institute - Jerusalem, Israel• Linkage analysis
  
Stanford Clinical Laboratories, Molecular Pathology Laboratory - Palo Alto, CA, USA• Targeted mutation analysis
  
University Hospital of Antwerp, Department of Medical Genetics - Wuyts Lab - Edegem, Belgium  
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory - Cleveland, OH, USA• Targeted mutation analysis
  
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• Targeted mutation analysis
  
University of Michigan, Michigan Medical Genetics Laboratories - Ann Arbor, MI, USA• Targeted mutation analysis
  
University of North Carolina Hospitals, Molecular Genetics - Chapel Hill, NC, USA• Targeted mutation analysis
  
University of Washington Medical Center, Laboratory Medicine-Genetics Laboratory - Seattle, WA, 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.

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