In our continuing effort to provide the most comprehensive clinical testing services available for inherited connective tissue disorders, the Collagen Diagnostic Lab is pleased to announce an expanded menu of available tests. Beginning August 15th, genomic sequencing of new single genes (including MYLK, MYH11, PRKG1, FKBP14, PLS3 and CREB3L1), new panels (for Autosomal Dominant OI and Familial Aneurysms), and deletion/duplication studies by Array for all genes is available. This includes deletion/duplication studies for FBN1 (Marfan Syndrome). Please see our new Test Requisition Form (under 'Order a Test') for a list of all testing currently offered by the CDL.
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.