A Test in Focus
Hereditary neuromuscular disorders are quite varied in their presentations and even more diverse in terms of their specific genetic causes. Sometimes, these disorders can be framed in terms of the extent of weakness, sensory involvement, and/or autonomic involvements, but in other instances, it may be difficult to discern the appropriate test for many patients based on phenotype.
Mayo Medical Laboratories is the first clinical laboratory to offer postmortem genetic tests for inheritable cardiovascular disorders on formalin-fixed paraffin-embedded (FFPE) tissue as a preferred sample type.
Ann Moyer, M.D., Ph.D., discusses an additional gene, NUDT15, which is important in the prediction of thiopurine-related toxicity This gene has been added to our TPMT genotyping assay available through Mayo Medical Laboratories.
Ann Moyer, M.D., Ph.D., discusses the importance of pharmacogenomics testing to limit adverse drug reactions and the new focused pharmacogenomics panel available through Mayo Medical Laboratories.
Devin Oglesbee, Ph.D., Director of the Biochemical and Molecular Genetics Laboratories at Mayo Clinic, provides an overview of the lysosomal storage disease panel, when it is appropriate to order this test, what actions the results allow you to take, and how this test improves upon previous approaches.
Gessi Bentz Pino, CGS, a Genetic Counselor in the Department of Laboratory Medicine and Pathology at Mayo Clinic, provides an overview of the lysosomal storage disorders screen, when it is appropriate to order this test, what actions the results allow you to take, and how this test improves upon previous approaches.
Dietrich Matern, M.D., Ph.D., discusses the importance of newborn screening, the conditions included within the Recommended Universal Screening Panel, and the new newborn screening panels available through Mayo Medical Laboratories.
Mayo Clinic has one of the leading reference laboratories in the world that performs elemental analysis and metal testing for patients. Paul Jannetto, Ph.D., discusses Mayo’s testing menu and services.
Using targeted next-generation sequencing to identify lung tumors that may respond to targeted therapies by assessing somatic mutations simultaneously within EGFR, BRAF, KRAS, HRAS, NRAS, ALK, ERBB2 and MET and identifying rearrangements (fusions) involving ALK, ROS1, RET, and NTRK1.
Mayo Medical Laboratories now offers the following tests for Zika: MZIKP — Prenatal Zika and Dengue Virus Panel, IgM, Serum and MZIKA — Zika and Dengue Virus Panel, IgM, Serum.
Plasma ceramides are predictors of adverse cardiovascular events resulting from unstable atherosclerotic plaque. Three specific ceramides have been identified as highly linked to cardiovascular disease and insulin resistance: Cer16:0, Cer18:0, and Cer24:1. Jeff Meeusen, Ph.D., provides a video overview of this new test.