Disorders


 

Epidermolysis Bullosa Simplex with Muscular Dystrophy


Synonym(s): EBS-MD, Epidermolysis Bullosa Simplex and Limb-Girdle Muscular Dystrophy

 

OMIM

GeneLocusProtein
PLEC8q24Plectin-1

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA  
GeneDx - Gaithersburg, MD, USA  
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Sequence analysis of select exons
  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain• Sequence analysis of select exons
  
University Hospital Brno, Center of Molecular Biology and Gene Therapy - Brno, Czech Republic  

* 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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