Disorders


 

COL17A1-Related Junctional Epidermolysis Bullosa


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

 

OMIM

GeneLocusProtein
COL17A110q24.3Collagen alpha-1(XVII) chain

Laboratory Test Method Prenatal Carrier *
Center for Human Genetics Freiburg, Kohlhase Laboratory - Freiburg, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region

* 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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