In particular, it has the potential to detect recessive forms of OI caused by mutations in the genes LEPRE1, CRTAP, FKBP10, WNT1 and SP7/OSX, and to discriminate between the dominant inherited forms caused by COL1A1/COL1A2 and IFTM5 mutations, therefore improving the efficacy of the final diagnosis and reducing the time and costs of laboratory investigations. This evidence concerns the gene COL1A1 and osteogenesis imperfecta.