How long does it take to complete genomic DNA testing?
In our laboratory, genomic sequencing of COL1A1 and COL1A2 may take 6-7 weeks. II. Biochemical Studies – Analysis of type I collagen molecules made by cultured fibroblasts (from a skin biopsy). Type I collagen is the major protein in bone and the vast majority of individuals with OI have mutations in one of the two genes that direct the synthesis of collagen in bone. A small biopsy – 2-3mm in diameter (about an eighth of an inch across)- is taken from the skin of an arm or leg (a small amount of local anesthetic is used to numb the region) and the cells are grown from the tissue. When cells have grown to an adequate number, the type I collagen molecules that they manufacture are collected and studied by a procedure called gel electrophoresis. This type of study can assess how much of the protein is made, whether the structure of the protein molecule is normal or abnormal, and how well it is chaperoned out of the cell (where it normally functions). Cells from individuals with OI have tw
