Disorders

COL17A1-Related Junctional Epidermolysis Bullosa

Synonym(s): COL17A1-Related Junctional Epidermolysis Bullosa Herlitz and Non-Herlitz, Epidermolysis Bullosa, Hemidesmosomal Variant

OMIM

Gene	Locus	Protein
COL17A1	10q24.3	Collagen alpha-1(XVII) chain

Laboratory	Test Method	Prenatal	Carrier *
Center for Human Genetics Freiburg, Kohlhase Laboratory - Freiburg, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
GeneDx - Gaithersburg, MD, USA
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA

^* 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.