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.
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.
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.
There are many probable causes of chronic diarrhea and abdominal pain, including inflammatory bowel disease (IBD), irritable bowel syndrome (IBS), celiac disease, infectious GI pathogens, and malignancy. After excluding other causes of chronic diarrhea, a physician is left with the diagnosis IBS-diarrhea (IBS-D). One main cause of IBS-D is bile acid malabsorption.
To help you manage billing charges associated with test cancellations and tests not performed, Mayo Clinic Laboratories has launched a new, interactive Test Not Performed (TNP) Report.
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.
At Mayo Clinic, we know the importance of laboratory testing in a patient’s episode of care. Our unique combination of specialized laboratories and neurology patient care clinics gives us the ability to put into practice clinically proven, cost-effective, patient care-driven testing approaches for hundreds of neurological conditions.