Disorders


 

Dystrophic Epidermolysis Bullosa


Synonym(s): Epidermolysis Bullosa Dystrophica

 

GeneReviewOMIM

GeneLocusProtein
COL7A13p21.1Collagen alpha-1(VII) chain

Laboratory Test Method Prenatal Carrier *
bio.logis Center for Human Genetics - Frankfurt, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
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
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of the entire coding region
• Deletion/duplication analysis
• Mutation scanning of select exons
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Sequence analysis of the entire coding region
• Sequence analysis of select exons
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Deletion/duplication analysis
 
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands• Sequence analysis of the entire coding region
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• 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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