A Test in Focus

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.

By Barbara J. Toman • June 14, 2022

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.

By Barbara J. Toman • May 17, 2022

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.

By Barbara J. Toman • May 10, 2022

In this “Test in Focus” 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.

By Barbara J. Toman • April 19, 2022

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.

By Barbara J. Toman • April 12, 2022

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.

By Barbara J. Toman • April 5, 2022

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.

By Barbara J. Toman • March 29, 2022

John Lieske, M.D., discusses Mayo Clinic Laboratories' urinary ammonium testing. A test that takes the guesswork out of determining acid base disorders by giving nephrologists a true understanding of a patient’s true urinary ammonium level.

By Cory Pedersen • March 15, 2022

Audrey Schuetz, M.D., provides a detailed overview of Mayo Clinic Laboratories’ new culture-based extended spectrum beta lactamase (ESBL) testing. Used to screen for the presence of multi-drug resistant gram-negative bacteria in donor stool intended for fecal microbiota transplantation, the screening test is performed on stool or swab samples taken from around the anus to detect potentially harmful ESBL bacteria that could jeopardize the outcomes of fecal microbiota transplants -- especially in patients who carry the bacteria in their gut without getting sick.

By Barbara J. Toman • March 1, 2022

Andrew McKeon, M.B., B.Ch., M.D., explains how Mayo Clinic Laboratories' stiff-person assay provides comprehensive evaluation for individuals on the spectrum of stiff-person syndrome. In addition to guiding treatment decisions, the assay can help confirm the most-severe stiff-person phenotype — known as PERM — which is associated with potential cancers.

By Barbara J. Toman • February 22, 2022

Joseph Yao, M.D., explains how Mayo Clinic Laboratories’ SARS four-target test for viral respiratory disease can enhance patient care. The test detects RNA from SARS-CoV-2, influenza A, influenza B and respiratory syncytial virus, or RSV. RSV — which poses significant risks for infants and patients with underlying health conditions — can be treated if diagnosed early.

By Samantha Rossi • January 18, 2022

Div Dubey, M.B.B.S., explains Mayo Clinic Laboratories' phenotypic testing approach for autoimmune axonal neuropathy. The comprehensive, serologic panel detects for antibodies with clinical relevance to the disease to provide clarity on etiology, prognosis, and treatment choices.

By Samantha Rossi • December 28, 2021

Michelle Kluge, M.S., CGC, explains how Mayo Clinic Laboratories’ CYPZ assay provides accurate testing for congenital adrenal hyperplasia. Using an in-depth methodology that incorporates Sanger sequencing, MCL can provide clear answers for carriers and individuals clinically affected by the most common form of CAH.

By Samantha Rossi • November 23, 2021