Disorders


 

Facioscapulohumeral Muscular Dystrophy


Synonym(s): FSH Muscular Dystrophy, FSHD, Landouzy-Dejerine Muscular Dystrophy

 

GeneReviewOMIM

GeneLocusProtein
DUX44q35.2 

Laboratory Test Method Prenatal Carrier *
Alberta Children's Hospital, Molecular Diagnostic Laboratory - Calgary, Canada• Deletion/duplication analysis
  
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA• Deletion/duplication analysis
  
Children's Hospital of Eastern Ontario, Molecular Genetics Diagnostic Laboratory - Ottawa, Canada• Deletion/duplication analysis
 
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel• Deletion/duplication analysis
 
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Linkage analysis
 
Leiden University Medical Center, Laboratory for Diagnostic Genome Analysis - Leiden, Netherlands• Deletion/duplication analysis
 
Medgene, MedGene - Bratislava, Slovakia• Deletion/duplication analysis
 
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea• Deletion/duplication analysis
 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain• Deletion/duplication analysis
 
Southmead Hospital - Pathology Sciences, Bristol Genetics Laboratory - North Bristol NHS Trust - Bristol, Great Britain• Linkage analysis
• Deletion/duplication analysis
 
University Hospital Brno, Center of Molecular Biology and Gene Therapy - Brno, Czech Republic• Deletion/duplication analysis
 
University of Iowa Hospitals and Clinics, Department of Pathology - Iowa City, IA, USA• Deletion/duplication 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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