Disorders


 

PPIB-Related Osteogenesis Imperfecta


 

OMIM

GeneLocusProtein
PPIB15q21-q22Peptidyl-prolyl cis-trans isomerase B

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 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.

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