Disorders

Osteoporosis Pseudoglioma Syndrome

Synonym(s): Osteogenesis Imperfecta, Ocular Form

Gene	Locus	Protein
LRP5	11q13.4	Low-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.