Now testing for Osteogenesis Imperfecta
Tests for mutations of the Col1A1 and Col1A2 genes have been established. Mutations in these two very large genes results in Osteogenesis Imperfecta. The test provided is a screen of all exons and exon-intron boundaries. Thus the test allows the analysis of all familial known mutations and a test of any new mutation in a previously not characterized family.