Osteogenesis imperfecta and related bone fragility disorders are inherited conditions characterized by reduced bone strength, recurrent fractures, low bone mineral density, and skeletal deformities. Additional manifestations may include blue sclerae, dentinogenesis imperfecta, hearing loss, short stature, and ligamentous laxity.

This panel includes genes associated with classical osteogenesis imperfecta as well as other inherited disorders affecting collagen synthesis and processing, bone mineralization, osteoblast function, and skeletal strength.

This panel is recommended for patients with recurrent or low-trauma fractures, unexplained low bone mineral density, skeletal deformities, or other clinical findings suggestive of osteogenesis imperfecta or an inherited bone fragility disorder, including mild or atypical presentations.