Disorders


 

Oculopharyngeal Muscular Dystrophy


Synonym(s): OPMD

 

GeneReviewOMIM

GeneLocusProtein
PABPN114q11.2Polyadenylate-binding protein 2

Laboratory Test Method Prenatal Carrier *
Alberta Children's Hospital, Molecular Diagnostic Laboratory - Calgary, Canada• Targeted mutation analysis
  
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA• Targeted mutation analysis
  
BC Children's and BC Women's Hospitals, Molecular Genetics Laboratory - Vancouver, Canada• Targeted mutation analysis
  
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Targeted mutation analysis
 
Children's Hospital of Eastern Ontario, Molecular Genetics Diagnostic Laboratory - Ottawa, Canada• Targeted mutation analysis
 
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Targeted mutation analysis
 
Diagnostic Services of Manitoba, Health Sciences Centre site, Molecular Diagnostic Laboratory - Winnipeg, Canada• Targeted mutation analysis
 
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany• Targeted mutation analysis
 
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA• Targeted mutation analysis
GENDA - Ciudad autonoma de Buenos Aires, Argentina• Targeted mutation analysis
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Targeted mutation analysis
 
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Targeted mutation analysis
Maastricht University Medical Centre, Clinical Genomics - Maastricht, Netherlands• Targeted mutation analysis
 
Medgene, MedGene - Bratislava, Slovakia• Targeted mutation analysis
 
North York General Hospital, Molecular Genetics Laboratory - Toronto, Canada• Targeted mutation analysis
Praxis fuer Humangenetik Wien - Vienna, Austria• Targeted mutation analysis
 
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands• Targeted mutation analysis
 
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea• Targeted mutation analysis
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain• Targeted mutation analysis
 
University Children's Hospital, Labor Molekulargenetik, Abteilung Medizinische Genetik - Basel, Switzerland• Targeted mutation analysis
 
University of Turku, Diagnostic DNA Laboratory - Turku, Finland• 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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