A Test in Focus

Christopher Klein, M.D., and Erik Thorland, Ph.D., give an overview of the new hereditary epilepsy panels available through Mayo Clinic Laboratories. They discuss the Mayo Clinic testing approach, interpretation and results, and custom gene ordering.

David Murray, M.D., Ph.D., provides an overview of the updated monoclonal gammopathy screening and monitoring tests for multiple myeloma. He discusses when this testing should be ordered, how this approach improves upon previous methods, and what clinical action can be taken from the results of these tests.

Robert Jenkins, M.D., Ph.D., a pathologist and cancer geneticist at Mayo Clinic, provides an overview of the new neuro-oncology expanded gene panel and chromosomal microarray testing available through Mayo Medical Laboratories. He discusses which types of patients should be tested, how these tests improves upon previous methods, and what clinical action can be taken from the results of this testing.

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.