Disorders

SP7-Related Osteogenesis Imperfecta

Gene	Locus	Protein
SP7	12q13.13	Transcription factor Sp7

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Cologne University, Institute of Human Genetics - Cologne, Germany	• Linkage analysis
Connective Tissue Gene Tests - Allentown, PA, USA
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain
University of Washington Medical Center, Collagen Diagnostic Laboratory - Seattle, WA, 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.