We have decided to stop the use of analysis of procollagens produced by cultured fibroblasts as the PRIMARY approach to the diagnosis of osteogenesis imperfect and some forms of Ehlers Danlos syndrome. We will continue to use it to clarify the outcome of splice mutations, whether non-glycine substitutions in the triple helical affect collagen production and structure, and the effects of sequence alteration in the propeptides. Currently there is almost no differential in the cost of protein analysis and gene sequence analysis to detect alteration in type III procollagen that result from mutations in COL3A1 and a modest differential in the cost to identify mutations in type I collagen genes (COL1A1 and COL1A2). Please see AVAILABLE TESTS: Collagen Screen test guide for additional information.
The Collagen Diagnostic Lab is excited to announce comprehensive testing for Marfan syndrome and other FBN1-related disorders. Genomic sequencing of the FBN1 gene is now available as either a single gene test or as part of our Familial Aneurysm Panel. Over 1700 disease-causing mutations in FBN1 have been described in individuals with Marfan syndrome and other allelic disorders, including familial ectopia lentis, Weill-Marchesani syndrome, acromiric dysplasia, geophysic dysplasia, familial thoracic aortic aneurysms/dissections, and more.
Clinical testing for two new OI genes, WNT1 and TMEM38B, as well as an expanded Recessive OI Panel that includes these genes (12 genes total), is now available at the CDL. Mutations inWNT1 and TMEM38B result in moderately severe and progressive osteogenesis imperfecta inherited as an autosomal recessive disorder (see Individual OI Genes for more information). Mutations in WNT1 have also been associated with early onset osteoporosis.