Inborn Errors of Metabolism Diagnostic Testing Program
The Cincinnati Children’s Laboratory of Genetics and Genomics, in conjunction with Nancy Leslie, MD
, clinical and biochemical geneticist, introduce our Inborn Errors of Metabolism Diagnostic Testing program. Our program originated with the development of the Metaboseq
panel in collaboration with fatty acid oxidation disorders expert Arnold Strauss, MD. In early 2019, we expanded our program to offer diagnostic testing for a number of other Inborn Errors of Metabolism (IEOM) that cause abnormal glucose metabolism, hypoglycemia, and/or unexplained muscle weakness.
Our laboratory partners with clinical experts who provide interpretation and clinical recommendations on our reports. Our testing includes a number of sequencing panels. Single gene analysis is available for any gene on a panel, and targeted deletion/duplication is available for many genes. Additionally, we offer ExomeSeq, a clinical whole exome sequencing test for patients with complex phenotypes.