A Test in Focus

Linnea M. Baudhuin, Ph.D., and Emily K. Thoreson, M.S., CGC, explain how Mayo Clinic Laboratories renal genetics testing provides comprehensive, accurate and actionable results. Identifying a genetic cause helps guide the complex decisions involved with treating kidney disease.

Divyanshu (Div) Dubey, M.B.B.S., describes Mayo Clinic Laboratories' new diagnostic test for CIDP, or chronic inflammatory demyelinating polyneuropathy. The new test detects two antibodies — NF155 and CNTN1 — to enhance diagnosis and guide treatment decisions. Often misdiagnosed, CIDP is treatable if detected early.

John Lieske, M.D., describes Mayo Clinic Laboratories' new test for primary membranous nephropathy. PMND1 is a diagnostic cascade that provides a cost-effective approach to detecting antigens known to cause membranous nephropathy — a condition that can lead to kidney failure.

Rong He, M.D., describes how Mayo Clinic Laboratories’ NPM1Q assay detects all known forms of a genetic mutation found in about 30% of people with acute myeloid leukemia, or AML. Identifying the NPM1 mutation is critical for clinical decision-making.

Rajiv Pruthi, M.B.B.S., explains how Mayo Clinic Laboratories’ serotonin release assay achieves high sensitivity and specificity while avoiding the use of radioactive materials. Serotonin release testing is an important tool in the diagnosis of heparin induced thrombocytopenia, or HIT, which can have devastating consequences for patients.

Joshua Bornhorst, Ph.D., describes the new, FDA-approved Alzheimer's disease (AD) test and how it differs from Mayo Clinic Laboratories' existing AD evaluation. The laboratory will offer both tests, to ensure flexibility and options for managing clinical care.

Cherisse Marcou, Ph.D., and Marissa Ellingson, M.S., CGC, discuss whole exome sequencing (WES) at Mayo Clinic Laboratories. The comprehensive evaluation uses next-generation sequencing to detect for single nucleotide variants, small insertions or deletions, and copy number variants on approximately 20,000 genes, enabling precision answers to accurately diagnose, manage, and treat patients with identified inherited illness.

Alicia Algeciras, Ph.D., describes Mayo Clinic Laboratories’ new blood test to detect NFLC, or neurofilament light chain protein. NFLC is a biomarker for several neurodegenerative conditions. The new assay can determine if a patient’s cognitive decline is due to a neurodegenerative condition or some other, reversible condition — while avoiding the need for more-invasive testing of cerebrospinal fluid.

Paul Jannetto, Ph.D., and Loralie Langman, Ph.D., discuss Mayo Clinic Laboratories' unique approach to urine drug testing for addiction rehabilitation. Designed to guide and monitor therapy, the comprehensive profile tests for the most commonly used substances, including alcohol and nicotine, for a complete picture of a patient’s substance use.

In this test specific episode of the  "Answers From the Lab" podcast, Melissa Snyder, Ph.D., explains how IBDP2, when used after first-line testing has failed, can distinguish between ulcerative colitis and Crohn’s disease.

Paul Jannetto, Ph.D., describes Mayo Clinic Laboratories' synovial fluid testing for patients with symptoms of failed hip arthroplasty. The Food and Drug Administration recommends testing for elevated chromium and cobalt, which can indicate a malfunctioning metal hip implant. A Mayo Clinic study found that synovial fluid testing for those elements is more sensitive than serum or whole blood testing.

Ann Moyer, M.D., Ph.D., discusses TPNUQ, Mayo Clinic Laboratories' genotyping test for identifying patients at risk for thiopurine toxicity. Used prior to therapy initiation, our assay evaluates for nuances in both TPMT and NUDT15, which have associations to thiopurine metabolization.

Maria Alice Willrich, Ph.D., explains kappa free light chain testing — Mayo Clinic Laboratories' data-driven approach to diagnose multiple sclerosis. The automated assay is more sensitive, cost-effective, and faster than traditional oligoclonal banding, enabling definitive answers for the challenging diagnosis.