Necrotizing autoimmune myopathy (NAM) is a serious but rare muscle disease strongly associated with autoantibodies to either the protein signal recognition particle (SRP) or the enzyme 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR). NAM typically manifests with subacute proximal limb muscle weakness and persistently elevated serum creatine kinase (CK) concentrations, but slower onsets can occur and complicate diagnosis.
Chromium and cobalt blood tests are used to monitor exposure to these elements. Both of these elements are naturally occurring and widely distributed in the environment. Previously, serum samples were collected and used to monitor patients with metal-on-metal implants, but serum can easily be contaminated during the harvesting and separation of the serum from the cellular blood components causing incorrect results. By using the new EDTA anticoagulated whole-blood test, which is collected in a trace element tube instead of using serum, the risk of contamination is significantly reduced.
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.
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.