Disorders

COL1A1/2-Related Osteogenesis Imperfecta

Synonym(s): Brittle Bone Disease, COL1A1/2-Related OI, OI

Gene	Locus	Protein
COL1A1	17q21.33	Collagen alpha-1(I) chain
COL1A2	7q21.3	Collagen alpha-2(I) chain

Laboratory	Test Method	Prenatal	Carrier *
Amplexa Genetics A/S, Amplexa Genetics - Odense, Denmark
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA
bio.logis Center for Human Genetics - Frankfurt, Germany
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
CGC Genetics - Porto, Portugal
Cologne University, Institute of Human Genetics - Cologne, Germany
Connective Tissue Gene Tests - Allentown, PA, USA
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
diagenos - Osnabrueck, Germany	• Sequence analysis of select exons
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
Endokrinologikum Hamburg - Center for Hormonal and Metabolic Diseases, Prenatal, and Reproductive Medicine, Molecular Diagnostics - Hamburg, Germany
GENETAQ, Molecular Genetics Centre - Malaga, Spain
GGA - Galil Genetic Analysis - Kazerin, Israel
Innovagenomics S.L, Innovagenomics - Salamanca, Spain	• Mutation scanning of the entire coding region
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
Medgene, MedGene - Bratislava, Slovakia
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA
Praxis fuer Humangenetik Wien - Vienna, Austria
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany
Tulane University Health Sciences Center, Matrix DNA Diagnostics - New Orleans, LA, USA
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.