BCM-MitomeNGSSM Leber Congenital Amaurosis Panel
Working in close collaboration with clinical experts such as professors, Arthur Beaudet, M.D. and Richard Lewis M.D., M.S., the Medical Genetics Laboratories (MGL) at Baylor College of Medicine has developed comprehensive molecular testing for Leber Congenital Amaurosis and allied retinal dystrophies. The BCM-MitomeNGSSM Leber Congenital Amaurosis Panel (test code: 5090) evaluates 19 genes and has been clinically validated using Next Generation Sequencing technology to ensure 100% coverage of the coding region of each gene. This assay is designed to detect small deletions/duplications as well as single nucleotide changes in the targeted 19 genes.
Single gene Sanger Sequencing and Targeted Deletion/Duplication analysis are also available.
For more information on ordering this panel, please see test information on our web site or call 1-800-411-GENE (4363).