Disorders

Epidermolysis Bullosa Simplex

Synonym(s): EBS

Gene	Locus	Protein
KRT5	12q13.13	Keratin
KRT14	17q21.2	Keratin

Laboratory	Test Method	Prenatal	Carrier *
Aarhus University Hospital, Department of Clinical Genetics - Aarhus, Denmark
Centogene AG, Rare Disease Company - Rostock, Germany
GeneDx - Gaithersburg, MD, USA	• Sequence analysis of select exons
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
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.