Disorders


 

COL1A1/2-Related Osteogenesis Imperfecta


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

 

GeneReviewOMIM

GeneLocusProtein
COL1A117q21.33Collagen alpha-1(I) chain
COL1A27q21.3Collagen 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.

Loading...