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.
At Mayo Clinic, we offer a comprehensive approach to testing that focuses on the best outcomes for the patient. Our testing method combines molecular and cytogenetic analysis (in addition to a standard morphological and histological assessment) to provide a clear picture of the diagnosis, prognosis, and treatment options. This approach maximizes the amount of information available, allowing for a tailored treatment plan.
Many patients may have flare-ups of their disease, or they may stop responding to treatment. In these situations, the clinician may choose to increase the dose administered or recommend more frequent injections. One cause of decreased response to treatment is the appearance of anti-drug antibodies or “immunogenicity.”
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.
Genetic testing is like security-camera video footage of a break-in, providing essential clues to identify a culprit. In certain cancers, the “culprit” might be a rearrangement in a person’s DNA, which genomic testing can capture. Mayo Clinic has developed a novel group of clinical tests that zoom in on a person’s genome to characterize chromosomal rearrangements.