Disorders

Collagen Type VI-Related Disorders

Gene	Locus	Protein
COL6A1	21q22.3	Collagen alpha-1(VI) chain
COL6A2	21q22.3	Collagen alpha-2(VI) chain
COL6A3	2q37	Collagen alpha-3(VI) chain

Laboratory	Test Method	Prenatal	Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA
Centogene AG, Rare Disease Company - Rostock, Germany
CGC Genetics - Porto, Portugal
Connective Tissue Gene Tests - Allentown, PA, USA
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GGA - Galil Genetic Analysis - Kazerin, Israel
GSTS Pathology, DNA Laboratory - London, Great Britain	• Linkage analysis
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
University of Utah, Utah Genome Center - Salt Lake City, UT, 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.