A Test in Focus
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is an autosomal dominant vascular dysplasia characterized by the presence of arteriovenous malformations of the skin, mucosa, and viscera. Linnea Baudhuin, Ph.D., FACMG, Co-Director of the Personalized Genomics Laboratory at Mayo Clinic, provides an overview of the new familial HHT gene panel available through Mayo Medical Laboratories. She discusses which types of patients should be tested, how this approach improves upon previous methods, and what clinical action can be taken from the results of this test.
Genetic testing for cardiovascular disorders is rapidly changing. Recent advancements in technology with next-generation sequencing and the ability to sequence more for less has provided more efficient and cost-effective patient care.
High-sensitivity troponin T is a new assay recently approved by the U.S. Food and Drug Administration. This assay is most often used to evaluate patients with possible acute ischemic heart disease, but it also has a variety of uses in the more chronic setting.
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.