COL2A1 and Kabuki syndrome: It can detect mutations in the FANCA gene such as in this case and find variants in COL2A1, KMT2D, THOC6, and other genes involved in Stickler syndrome, Kabuki syndrome, and Beaulieu–Boycott–Innes syndrome, greatly contributing to the development of genetic counseling.[21] Scientists are currently trying to find a noninvasive method to replace the traditional invasive way of collecting samples to avoid the risk of miscarriage due to the procedure.[22]