Disorders


 

Osteoporosis Pseudoglioma Syndrome


Synonym(s): Osteogenesis Imperfecta, Ocular Form

 

OMIM

GeneLocusProtein
LRP511q13.4Low-density lipoprotein receptor-related protein 5

Laboratory Test Method Prenatal Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA  
Connective Tissue Gene Tests - Allentown, PA, USA  
GeneDx - Gaithersburg, MD, USA  
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands  
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain  

* 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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