Disorders


 

SLC26A4-Related Pendred Syndrome


 

OMIM

GeneLocusProtein
SLC26A47q31Pendrin

Laboratory Test Method Prenatal Carrier *
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA• Sequence analysis of select exons
  
Asper Biotech Ltd., Asper Biotech - Tartu, Estonia• Targeted mutation analysis
  
bio.logis Center for Human Genetics - Frankfurt, Germany  
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA  
CeGaT GmbH - Tuebingen, Germany  
Center for Genetics at Saint Francis, Genetics Laboratory - Tulsa, OK, USA  
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  
Children's Hospital and Research Center Oakland, Molecular Genetics - Oakland, CA, USA  
Children's Hospital of Philadelphia, Molecular Genetics Laboratory - Philadelphia, PA, USA  
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA  
Cliniques universitaires Saint Luc, Center for Human Genetics - Brussels, Belgium  
Cologne University, Institute of Human Genetics - Cologne, Germany  
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA  
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany• Sequence analysis of select exons
  
GeneDx - Gaithersburg, MD, USA  
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Mutation scanning of the entire coding region
  
Harvard Medical School and Partners Healthcare, Laboratory for Molecular Medicine - Cambridge, MA, USA  
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada  
Innovagenomics S.L, Innovagenomics - Salamanca, Spain• Mutation scanning of the entire coding region
  
Medgene, MedGene - Bratislava, Slovakia  
Nationwide Children's Hospital, ChildLab Molecular Genetics Laboratory - Columbus, OH, USA  
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands  
Samsung Medical Center, Department of Laboratory Medicine and Genetics - Seoul, South Korea  
Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA  
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea  
Stanford Clinical Laboratories, Molecular Pathology Laboratory - Palo Alto, CA, USA  
University Hospital of Antwerp, Department of Medical Genetics - Wuyts Lab - Edegem, Belgium  
University of California, Irvine, MitoMed Diagnostic Laboratory - Irvine, CA, USA• Targeted mutation analysis
  

* 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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