Disorders

Otospondylomegaepiphyseal Dysplasia

Synonym(s): Chondrodystrophy with Sensorineural Deafness, OSMED

Gene	Locus	Protein
COL11A2	6p21.3	Collagen alpha-2(XI) chain

Laboratory	Test Method	Prenatal	Carrier *
Addenbrooke's Hospital, Molecular Genetics Laboratory - Cambridge, Great Britain
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
Connective Tissue Gene Tests - Allentown, PA, USA
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, 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.