Osteogenesis Imperfecta Report

Osteogenesis ImperfectaOsteogenesis Imperfecta indicates a rare, congenital medical condition that affects the connective tissue of the bone. Characterized by a high phenotypic variability, OI is determined by mutations in several genes, of which COL1A1 and COL1A2 are the most involved.More than 30 genes analyzed It is recommended if: This test is indicated for those who have a positive family history of the condition, which is mostly transmitted in an autosomal dominant manner, and/or for those who show signs of the pathology. Among these, bone fragility, blue sclerae, defects in dentinogenesis, scoliosis and laxity in ligaments, etc. List of main conditions: Odontohypophosphatasia Ehlers-Danlos syndrome, spondylodysplastic type, 1 Osteogenesis imperfecta, different types