PUSHING THE BOUNDARIES OF NEUROLOGY DIAGNOSIS

PACEIn this month’s “Virtual Lecture” Eoin Flanagan, M.D., B.Ch., reviews how to diagnose autoimmune encephalitis, what to watch that may suggest a different diagnosis, discuss neural autoantibodies interpretation and putting test results into clinical context.

Education on this topic decreases misdiagnosis and the possibility of misinterpreting the comments provided by the reporting laboratories.

As part of Mayo Clinic’s Neuro-Oncology practice, the Division of Laboratory Genetics and Genomics tests about 50 brain tumors a week, and upwards of 1,500 brain tumors a year from all over the world.

Ed Garber spent months in physical and neurological decline while a cohort of care providers and specialists searched for the root cause of his symptoms. That search for answers ended after testing by Mayo Clinic Laboratories gave them the confirmatory diagnosis they needed.

Linda Hasadsri, M.D., Ph.D., explains carrier screening at Mayo Clinic Laboratories. Using targeted genotyping, our three focused panels evaluate genes associated with cystic fibrosis, spinal muscular atrophy, and hemoglobinopathies, to provide clear answers on reproductive risks and to guide decision-making.

Andrew McKeon, M.B., B.Ch., M.D., explains how Mayo Clinic Laboratories' pediatric autoimmune/CNS testing can better guide the treatment of autoimmune neurological diseases in children. The tailored evaluation covers only biomarkers relevant to pediatric presentations of the diseases.

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.

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.

Mayo Clinic neuropathologist Caterina Giannini, M.D., Ph.D., received the American Association of Neuropathologists’ (AANP) award for Meritorious Contributions to Neuropathology during the AANP’s 98th annual meeting in June.

As a two-time brain tumor survivor, Alex Kraatz has been through more harrowing medical experiences in his 34 years than most people face in a lifetime. But Alex’s fighting spirit, coupled with precision laboratory testing and cutting-edge treatments, have propelled him forward, keeping him hopeful despite the odds.

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.