Disorders

Dystrophic Epidermolysis Bullosa

Synonym(s): Epidermolysis Bullosa Dystrophica

Gene	Locus	Protein
COL7A1	3p21.1	Collagen alpha-1(VII) chain

Laboratory	Test Method	Prenatal	Carrier *
bio.logis Center for Human Genetics - Frankfurt, Germany
Center for Human Genetics Freiburg, Kohlhase Laboratory - Freiburg, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
GeneDx - Gaithersburg, MD, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Mutation scanning of select exons
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain	• Sequence analysis of select exons
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
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.