Disorders

LEPRE1-Related Osteogenesis Imperfecta

Gene	Locus	Protein
LEPRE1	1p34.1	Prolyl 3-hydroxylase 1

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
Cologne University, Institute of Human Genetics - Cologne, Germany	• Linkage analysis
Connective Tissue Gene Tests - Allentown, PA, USA
Innovagenomics S.L, Innovagenomics - Salamanca, Spain	• Mutation scanning of the entire coding region
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain
University Hospital Ghent, Connective Tissue Laboratory - Ghent, Belgium
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.