Disorders

COL9A3-Related Multiple Epiphyseal Dysplasia

Synonym(s): EDM3, Multiple Epiphyseal Dysplasia 3

Gene	Locus	Protein
COL9A3	20q13.3	Collagen alpha-3(IX) chain

Laboratory	Test Method	Prenatal	Carrier *
CeGaT GmbH - Tuebingen, Germany
Connective Tissue Gene Tests - Allentown, PA, USA	• Sequence analysis of select exons
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain	• Sequence analysis of select exons
Manchester St Mary's Hospital, Regional Genetics Laboratories - Manchester, Great Britain	• Sequence analysis of select exons
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea	• 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.