Disorders

Epidermolysis Bullosa Simplex with Muscular Dystrophy

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

Gene	Locus	Protein
PLEC	8q24	Plectin-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.