Disorders

Ehlers-Danlos Syndrome Type VIIB

Synonym(s): EDS VIIB, EDSVIIB

Gene	Locus	Protein
COL1A2	7q21.3	Collagen alpha-2(I) chain

Laboratory	Test Method	Prenatal	Carrier *
bio.logis Center for Human Genetics - Frankfurt, Germany	• Sequence analysis of select exons
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
Center for Human Genetics Freiburg, Kohlhase Laboratory - Freiburg, Germany
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany	• Sequence analysis of select exons
Centogene AG, Rare Disease Company - Rostock, Germany
Connective Tissue Gene Tests - Allentown, PA, USA	• Sequence analysis of select exons
diagenos - Osnabrueck, Germany	• Sequence analysis of select exons
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany	• Sequence analysis of select exons
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany	• Sequence analysis of select exons
Medgene, MedGene - Bratislava, Slovakia
Praxis fuer Humangenetik Wien - Vienna, Austria
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany	• Sequence analysis of select exons
University of Washington Medical Center, Collagen Diagnostic Laboratory - Seattle, WA, USA	• Sequence analysis of select exons

^* 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.