Neurology Education

John Mills, Ph.D., and Divyanshu Dubey, M.B.B.S., explain how Mayo Clinic Laboratories' new test panel can distinguish among various potential causes of demyelinating neuropathies. Test results are important for managing these devastating autoimmune conditions.

Anastasia Zekeridou, M.D., Ph.D., explains how Mayo Clinic Laboratories' updated panels and methodology boost the accuracy and efficiency of testing for three autoimmune neurology biomarkers. Early diagnosis is key to managing debilitating conditions associated with these antibodies.

Divyanshu Dubey, M.B.B.S., explains how Mayo Clinic Laboratories' unique PDE10A and TRIM46 tests facilitate the management of central nervous system disorders triggered by cancers. Early diagnosis and treatment are important for managing disabling neurological symptoms and malignancy.

What started as a persistent headache for Spencer Lodin soon devolved into slowed speech, seizures, and hallucinations, symptoms which stumped ER doctors into thinking he had meningitis or was suffering from psychosis. Finally, specialized testing at Mayo Clinic identified Spencer's condition as GFAP-IgG associated autoimmune encephalitis, which allowed for targeted treatment and a full recovery.

Antibody against the GABA-A receptor is a biomarker of autoimmune encephalopathy that occurs across the lifespan, and disproportionately affects children. In this test-specific episode of the "Answers From the Lab" podcast, Andrew McKeon, M.B., B.Ch., M.D., explains how Mayo Clinic Laboratories' GABA-A receptor antibody assay aids diagnosis of this serious but treatable condition.

In this “Hot Topic,” Divyanshu Dubey, M.B.B.S., associate professor of laboratory medicine and pathology and neurology at Mayo Clinic, discusses various clinical and paraclinical features of autoimmune encephalitis, autoimmune seizures, and epilepsy.

In this episode of “Answers From the Lab,” host Bobbi Pritt, M.D., chair of the Department of Laboratory Medicine and Pathology at Mayo Clinic, is joined by Vanda Lennon, M.D., Ph.D., founder of the Neuroimmunology Laboratory and now director of the Neuroimmunology Research Laboratory at Mayo Clinic. Dr. Pritt and Dr. Lennon discuss the research and testing innovations that have led to critical advancements in the field of autoimmune neurology over the last few decades.

Tying together the expertise and curiosity of Mayo Clinic autoimmune neurology researchers with eager patients who have rare disease and are looking for answers, the innovative collaboration benefits both patients affected by MOGAD and scientists on the front lines of discovery.

Joe Mondloch and his wife Sue have existed in a grey area of uncertainty due to the unpredictable autoimmune neurological illness Joe has lived with for the last seven years. Rare, incurable, and debilitating, the newly classified disorder can be hard to manage. But thanks to information and direction provided by a rare disease advocacy group, the Mondlochs sought care at Mayo Clinic and received much more than answers.

Sean Pittock, M.D., explains how Mayo Clinic Laboratories' novel Ma2 test aids diagnosis of autoimmune neurology disorders that are often caused by underlying cancer. Rapid diagnosis is key to preventing significant disability and disease.

In this test-specific episode of “Answers From the Lab,” host Bobbi Pritt, M.D., chair of the Department of Laboratory Medicine and Pathology at Mayo Clinic, and Bjorn Oskarsson, M.D., a neurologist at Mayo Clinic’s Florida campus, discuss how the neurofilament light chain test available through Mayo Clinic Laboratories helps physicians diagnose neurological disease and assess neuronal damage.

In this month's "Hot Topic," Eoin Flanagan, M.B., B. Ch., discusses the important issue of autoimmune encephalitis misdiagnosis and identifies red flags that be useful in clinical practice to suggest alternative diagnoses and highlight antibodies that sometimes cause confusion.

Andrew McKeon, M.B., B.Ch., M.D., explains how Mayo Clinic Laboratories' expanded movement disorders panel better identifies autoimmune conditions to guide appropriate treatment.

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.

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.

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.

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.

Mayo Clinic Laboratories is leading an evolution in autoimmune neurology diagnosis. To better reflect this testing evolution, and to reduce confusion and improve utilization for our clients, effective April 28, we are renaming our phenotype-specific evaluations.

Andrew McKeon, M.B., B.Ch., M.D., an expert in neuroimmunology, joins the "Answers From the Lab" podcast for a conversation with Bobbi Pritt, M.D. In this episode, Dr. McKeon and Dr. Pritt discuss how Mayo Clinic is pioneering advancements in the field of autoimmune neurology, how these discoveries were made, and why they are important to both patients and physicians.

This “Specialty Testing” webinar will discuss the considerations physicians must weigh when evaluating suspected neuropathy patients with special emphasis put on small-fiber neuropathy and the most appropriate laboratory testing related to that phenotype.

Mayo Clinic researchers have developed and validated a new antibody test to diagnose multiple sclerosis (MS). The new test is an automated and cost-effective method compared to other tests used to diagnose MS, according to the research published in Mayo Clinic Proceedings. The test is now available through Mayo Clinic Laboratories.

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.

Advanced testing at Mayo Clinic Laboratories that confirmed a diagnosis of myasthenia gravis put Lorinda McKinley on the road to renewed health after she nearly lost it all to the rare autoimmune disease.

This “Specialty Testing” webinar will discuss the collaborative effort which led to the discovery of Kelch like protein 11 (KLHL11) IgG as a specific biomarker of neurological autoimmunity associated testicular germ cell tumor.

Divyanshu (Div) Dubey, M.B.B.S., explains how Mayo Clinic Labs’ new Kelch-11 antibody test — the first in the world — can confirm diagnosis, guide treatment, and improve outcomes in patients affected by testicular cancer-associated paraneoplastic encephalitis.

Mayo Clinic Laboratories has launched a first-in-the-U.S. autoimmune test of the Kelchlike protein 11 antibody, or KLHL11, which is used to detect autoimmune disease associated with testicular cancer.

In this month’s “Hot Topic,” Andrew McKeon, M.B., B.Ch., M.D., reviews the use of neurological phenotype-based evaluations, the move away from the paraneoplastic evaluation, and upcoming changes to test profiles.

Andrew McKeon, M.B., B.Ch., M.D., discusses updates that are being made to Mayo Clinic Laboratories' autoimmune profile that will remove some antibodies from those profiles. He describes the rationale behind the updates, reviews which antibodies are involved, and explains how the changes will streamline testing and enhance test interpretation.

Based on studies that have shown certain antibodies may not be as clinically relevant to autoimmune testing as previously thought, Mayo Clinic Laboratories is updating a number of its autoimmune profiles by removing some antibodies from them.

Christopher Klein, M.D., discusses Mayo Clinic’s updated myasthenia gravis and Lambert-Eaton syndrome testing approach. Automatic reflex to second-line testing saves time and increases sensitivity and specificity to confirm diagnosis in patients with atypical presentation.

Andrew McKeon, M,B., B.Ch., M.D., provides an overview of Mayo Clinic Laboratories' new paraneoplastic vision loss evaluation — a test that can help direct a cancer diagnosis and guide treatment. He reviews why this test was developed, when it should be ordered, and how the results can affect patient care.

In this month’s “Hot Topic,” John Mills, Ph.D., explains the central role of tissue immunofluorescence in the identification of neural antibodies and discusses the benefits of an integrated laboratory approach to the development and validation of novel antibody biomarkers.

This “Specialty Testing” webinar will address the clinical presentations, evaluation (including diagnostic antibody testing), and treatment of autoimmune pediatric CNS disorders, including encephalitides and myelopathies.

This “Specialty Testing” webinar will describe the clinical, radiologic, and serologic characteristics of autoimmune myelopathies and their mimics.

Using advanced technology, scientists at Chan Zuckerberg (CZ) Biohub, Mayo Clinic and University of California, San Francisco (UCSF), have discovered an autoimmune disease that appears to affect men with testicular cancer.

Sean Pittock, M.D., and Andrew McKeon, M.B., B.Ch., M.D., were featured in a Post Bulletin series about autoimmune neurology disorders and the research and services that Mayo Clinic offers patients.

Molecular biomarkers are a critical component in the treatment of adult and pediatric brain tumors. Robert Jenkins, M.D., Ph.D., explains how Mayo Clinic Laboratories' chromosomal microarray provides more comprehensive and accurate tumor analysis compared with other test methods.

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.

Mayo Clinic Laboratories has developed a cutting-edge suite of Alzheimer's disease testing. The newest assays use blood samples, avoiding the need for lumbar punctures to obtain cerebrospinal fluid. The testing suite exemplifies Mayo Clinic Laboratories' innovative business approach. As a platform company, Mayo Clinic is creating a diagnostics ecosystem to meet a wide range of testing needs and help physicians order the right tests for their patients.

In this episode of “Answers From the Lab,” host Bobbi Pritt, M.D., chair of the Division of Clinical Microbiology at Mayo Clinic, is joined by Alicia Algeciras-Schimnich,[...]

In this episode of “Answers From the Lab,” host Bobbi Pritt, M.D., chair of the Division of Clinical Microbiology at Mayo Clinic, is joined by William Morice II, M.D., Ph.D., CEO and president of Mayo Clinic Laboratories, to discuss the latest advancements in Alzheimer’s disease testing and treatment.

PACE/State of FL This webinar, with expert presenters having both extensive lab and clinical experience, will discuss the latest updates in Alzheimer’s disease diagnostic criteria as well as a comprehensive review of the laboratory testing landscape to help listeners better understand their options.

Rapidly progressive dementia (RPD) is an umbrella term covering many devasting conditions, including Creutzfeldt-Jakob disease (CJD). Gregory (Gregg) Day, M.D., explains how Mayo Clinic Laboratories' unique RPD evaluation and new CJD test help pinpoint diagnosis, to guide prognosis and treatment decisions.

In this episode of “Answers From the Lab,” host Bobbi Pritt, M.D., chair of the Division of Clinical Microbiology at Mayo Clinic, is joined by William Morice II, M.D., Ph.D., CEO and president of Mayo Clinic Laboratories. They discuss testing innovations for Alzheimer’s disease and cognitive impairments, and how laboratorians can responsibly help shape the future of healthcare.

Mayo Clinic Laboratories has marked a significant advancement in the fight against Alzheimer's disease with the introduction of an innovative diagnostic test. This noninvasive blood test accurately detects the p-Tau217 biomarker, indicative of amyloid beta accumulation in the brain. This test is set to transform the approach to Alzheimer's disease management, offering a convenient and less invasive alternative to traditional diagnostic methods.

Alicia Algeciras-Schimnich, Ph.D., discusses Mayo Clinic Laboratories’ new noninvasive plasma biomarker assay for Alzheimer’s disease, an accessible, highly accurate testing option for individuals age 50 and above who are experiencing mild cognitive impairment or early dementia. Positive test results can confirm amyloid beta pathology and facilitate access to disease-modifying therapies.

In this test-specific episode of “Answers From the Lab,” host Bobbi Pritt, M.D., chair of the Department of Laboratory Medicine and Pathology at Mayo Clinic, and Bjorn Oskarsson, M.D., a neurologist at Mayo Clinic’s Florida campus, discuss how the neurofilament light chain test available through Mayo Clinic Laboratories helps physicians diagnose neurological disease and assess neuronal damage.

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.

This "Specialty Testing" webinar will discuss Cerebrospinal fluid (CSF), which has been used in research on Alzheimer's disease for decades. Only recently, have platforms been developed to standardize measurements across laboratories.

John Mills, Ph.D., and Divyanshu Dubey, M.B.B.S., explain how Mayo Clinic Laboratories' new test panel can distinguish among various potential causes of demyelinating neuropathies. Test results are important for managing these devastating autoimmune conditions.

Tying together the expertise and curiosity of Mayo Clinic autoimmune neurology researchers with eager patients who have rare disease and are looking for answers, the innovative collaboration benefits both patients affected by MOGAD and scientists on the front lines of discovery.

Joe Mondloch and his wife Sue have existed in a grey area of uncertainty due to the unpredictable autoimmune neurological illness Joe has lived with for the last seven years. Rare, incurable, and debilitating, the newly classified disorder can be hard to manage. But thanks to information and direction provided by a rare disease advocacy group, the Mondlochs sought care at Mayo Clinic and received much more than answers.

In this month's "Hot Topic," Eoin Flanagan, M.B., B.Ch., reviews the recent diagnostic criteria for Myelin Oligodendrocyte Glycoprotein Antibody-associated Disease (MOGAD).

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.

Lying in an ICU bed as sick as he could get, Jon Bratsch thought he was past the point of no return. But when a Mayo Clinic Laboratories’ test revealed the source of his dire symptoms, everything changed. Today, Jon’s back to the life and family he loves.

This “Specialty Testing” webinar will describe the clinical, radiologic, and serologic characteristics of autoimmune myelopathies and their mimics.

Antibodies to aquaporin-4 and myelin oligodendrocyte glycoprotein (MOG) are recently described biomarkers seen in a subset of atypical optic neuritis which have revolutionized our understanding of the condition. In this “Hot Topic,” my colleague, Dr. John Chen, will review these advances and how they impact the clinical care of our patients with optic neuritis.

"This study offers hope to patients, since each attack in NMO can cause loss of visual or motor function," says Sean Pittock, M.D., a Mayo Clinic neurologist and first author.

Identifying a precise genetic cause of hearing loss impacts clinical management. Nicole Boczek, Ph.D., and Melanie Meyer, M.S., CGC, explain how Mayo Clinic Laboratories' updated panel yields comprehensive results for optimal patient care.

Linda Hasadsri, M.D., Ph.D., explains how Mayo Clinic Laboratories’ inclusive approach to mitochondrial disease testing expedites diagnosis. Using innovative methodologies like custom reagents and droplet digital PCR enables precision insights on prognosis and treatment options.

The diagnosis of mitochondrial disease can be particularly challenging as the presentation can occur at any age, involve virtually any organ system, and be associated with widely varying severities. Due to the considerable overlap in the clinical phenotypes of various mitochondrial disorders, it is often difficult to distinguish these specific inherited disorders without genetic testing.

Matthew J. Schultz, Ph.D., and Amy L. White, M.S., CGC, explain how Mayo Clinic Laboratories' unique urine assay (Mayo ID: SORD) screens for peripheral neuropathy arising from SORD gene variants. Although recently identified, SORD-related peripheral neuropathy is fairly common.

Mayo Clinic Laboratories introduces the Inherited Parkinson’s Disease Gene Panel (Mayo ID: PARDP), a collaborative breakthrough poised to transform Parkinson’s disease diagnosis and treatment. Led by Rodolfo Savica, M.D., Ph.D., and Zhiyv (Neal) Niu, Ph.D., this comprehensive test offers unparalleled insights into Parkinson’s genetics, unveiling novel gene associations and enhancing diagnostic precision through next-generation sequencing. The panel’s capabilities include detecting subtle genetic variations and identifying familial patterns, promising personalized medicine advancements.

Multiple doctors and multiple examinations could not figure out why Lauri Sieben had spent much of her life “never feeling quite right” physically. Fortunately for Lauri, that changed after her daughter Christy began working as a genetic counselor in Mayo Clinic’s Molecular Technologies Laboratory. After seeing similarities between the patient testing she was performing for the lab and the physical symptoms being experienced by her mom, Christy took a leading role in getting Lauri to undergo molecular and biochemical testing at Mayo Clinic. The results of that testing not only provided much-needed answers, but a promising path forward for Lauri.

In this month's "Hot Topic," Nicole Boczek, Ph.D., assistant professor and laboratory director in the Department of Laboratory Medicine and Pathology, and Sarah Barnett, M.S., CGC, discuss diagnostic exploratory testing, explain why it’s important to the field of many specialty practice areas, and help determine which testing may be the most valuable for a given patient.

In this month's "Hot Topic," Megan Hoenig, M.S., M.P.H., CGC, a licensed and certified genetic counselor with the Division of Laboratory Genetics and Genomics at Mayo Clinic Laboratories, describes the principles and benefits of Familial Variant Targeted Testing (FMTT).

Identifying a precise genetic cause of hearing loss impacts clinical management. Nicole Boczek, Ph.D., and Melanie Meyer, M.S., CGC, explain how Mayo Clinic Laboratories' updated panel yields comprehensive results for optimal patient care.

Angela Pickart, M.S., CGC, and Emily Lauer, M.S., CGC, explain how Mayo Clinic Laboratories' multigene panel helps identify the cause of hereditary ataxia. Precise diagnosis of this complex movement disorder helps guide patient treatment and family screening.

Zhiyv (Neal) Niu, Ph.D., and Rodolfo Savica, M.D., Ph.D., explain why Mayo Clinic Laboratories' gene panel is the most comprehensive test available for inherited Parkinson's disease. The new panel covers all mutations known to cause the condition — or increase the risk of developing it.

Zhiyv (Neal) Niu, Ph.D., and Christopher Klein, M.D., explain how Mayo Clinic Laboratories' updated neuromuscular gene panel informs diagnosis and treatment. The phenotype-based panel covers the complete list of neuromuscular genes and their variants.

In this month's "Hot Topic," Christopher Klein, M.D., and Zhiyv (Neal) Niu, Ph.D., discuss how Mayo Clinic’s neuropathy and neuromuscular gene panels have enhanced patient care.

Nicole Boczek, Ph.D., and Sarah Barnett, M.S., CGC, explain how Mayo Clinic Laboratories' whole genome sequencing provides comprehensive information for rapid diagnosis of hereditary disorders.

Molecular biomarkers are a critical component in the treatment of adult and pediatric brain tumors. Robert Jenkins, M.D., Ph.D., explains how Mayo Clinic Laboratories' chromosomal microarray provides more comprehensive and accurate tumor analysis compared with other test methods.

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.

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.

Linda Hasadsri, M.D., Ph.D., explains how Mayo Clinic Laboratories’ inclusive approach to mitochondrial disease testing expedites diagnosis. Using innovative methodologies like custom reagents and droplet digital PCR enables precision insights on prognosis and treatment options.

Before testing at Mayo Clinic Laboratories, Barbara Domaille, Deborah Neville, Pamela Neville, and Rylie Ronnenberg thought there could be a genetic connection to the hip problems they shared. After the testing, they knew for sure.

The standard test for the diagnosis of narcolepsy is the multiple sleep latency test (MSLT). The MSLT is a complex test to perform as well as to interpret. The orexin-A/hypocretin-1 test is a sensitive and specific alternative to the MSLT to diagnose type 1 narcolepsy.

The diagnosis of mitochondrial disease can be particularly challenging as the presentation can occur at any age, involve virtually any organ system, and be associated with widely varying severities. Due to the considerable overlap in the clinical phenotypes of various mitochondrial disorders, it is often difficult to distinguish these specific inherited disorders without genetic testing.

Angela Pickart, M.S., CGC, and Emily Lauer, M.S., CGC, explain how Mayo Clinic Laboratories' multigene panel helps identify the cause of hereditary ataxia. Precise diagnosis of this complex movement disorder helps guide patient treatment and family screening.

Zhiyv (Neal) Niu, Ph.D., and Christopher Klein, M.D., explain how Mayo Clinic Laboratories' updated neuromuscular gene panel informs diagnosis and treatment. The phenotype-based panel covers the complete list of neuromuscular genes and their variants.

In this month's "Hot Topic," Christopher Klein, M.D., and Zhiyv (Neal) Niu, Ph.D., discuss how Mayo Clinic’s neuropathy and neuromuscular gene panels have enhanced patient care.

Christopher Klein, M.D., discusses Mayo Clinic’s updated myasthenia gravis and Lambert-Eaton syndrome testing approach. Automatic reflex to second-line testing saves time and increases sensitivity and specificity to confirm diagnosis in patients with atypical presentation.

This “Specialty Testing” webinar will discuss the diagnosis, pathological understanding, and current best treatment options for necrotizing autoimmune myopathy.

Matthew J. Schultz, Ph.D., and Amy L. White, M.S., CGC, explain how Mayo Clinic Laboratories' unique urine assay (Mayo ID: SORD) screens for peripheral neuropathy arising from SORD gene variants. Although recently identified, SORD-related peripheral neuropathy is fairly common.

Anastasia Zekeridou, M.D., Ph.D., explains how Mayo Clinic Laboratories' updated panels and methodology boost the accuracy and efficiency of testing for three autoimmune neurology biomarkers. Early diagnosis is key to managing debilitating conditions associated with these antibodies.

Divyanshu Dubey, M.B.B.S., explains how Mayo Clinic Laboratories' unique PDE10A and TRIM46 tests facilitate the management of central nervous system disorders triggered by cancers. Early diagnosis and treatment are important for managing disabling neurological symptoms and malignancy.

Mayo Clinic Laboratories introduces the Inherited Parkinson’s Disease Gene Panel (Mayo ID: PARDP), a collaborative breakthrough poised to transform Parkinson’s disease diagnosis and treatment. Led by Rodolfo Savica, M.D., Ph.D., and Zhiyv (Neal) Niu, Ph.D., this comprehensive test offers unparalleled insights into Parkinson’s genetics, unveiling novel gene associations and enhancing diagnostic precision through next-generation sequencing. The panel’s capabilities include detecting subtle genetic variations and identifying familial patterns, promising personalized medicine advancements.

Angela Pickart, M.S., CGC, and Emily Lauer, M.S., CGC, explain how Mayo Clinic Laboratories' multigene panel helps identify the cause of hereditary ataxia. Precise diagnosis of this complex movement disorder helps guide patient treatment and family screening.

This Specialty Testing webinar will discuss the spectrum of autoimmune movement disorders and explore diagnosis and treatment.

Sean Pittock, M.D., explains how Mayo Clinic Laboratories' novel Ma2 test aids diagnosis of autoimmune neurology disorders that are often caused by underlying cancer. Rapid diagnosis is key to preventing significant disability and disease.

Zhiyv (Neal) Niu, Ph.D., and Rodolfo Savica, M.D., Ph.D., explain why Mayo Clinic Laboratories' gene panel is the most comprehensive test available for inherited Parkinson's disease. The new panel covers all mutations known to cause the condition — or increase the risk of developing it.

Mayo Clinic Laboratories expanded movement disorders panel better identifies autoimmune conditions. Four recently identified biomarkers — septin-5, septin-7, neurochondrin, and adaptor protein-3B2 — have been added to the panel, and all four have been shown to respond to immunotherapy.

Andrew McKeon, M.B., B.Ch., M.D., explains how Mayo Clinic Laboratories' expanded movement disorders panel better identifies autoimmune conditions to guide appropriate treatment.

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.

This “Specialty Testing” webinar will discuss the considerations physicians must weigh when evaluating suspected neuropathy patients with special emphasis put on small-fiber neuropathy and the most appropriate laboratory testing related to that phenotype.

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.

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.

John Mills, Ph.D., explains Mayo Clinic Laboratories’ approach to MAG antibody testing. The ELISA-based assay uses higher reference ranges and human MAG antigen to detect MAG antibodies, which are associated with a rare, hard-to-treat condition known as DADS neuropathy.

This “Specialty Testing” webinar will discuss the collaborative effort which led to the discovery of Kelch like protein 11 (KLHL11) IgG as a specific biomarker of neurological autoimmunity associated testicular germ cell tumor.

In this month’s “Hot Topic,” Andrew McKeon, M.B., B.Ch., M.D., reviews the use of neurological phenotype-based evaluations, the move away from the paraneoplastic evaluation, and upcoming changes to test profiles.

A movement disorder might be caused by the body’s immune system, which is meant to fight infections, suddenly attacking the brain. Fortunately, an “autoimmune movement disorder” can often be treated—once its cause is discovered.

Matthew J. Schultz, Ph.D., and Amy L. White, M.S., CGC, explain how Mayo Clinic Laboratories' unique urine assay (Mayo ID: SORD) screens for peripheral neuropathy arising from SORD gene variants. Although recently identified, SORD-related peripheral neuropathy is fairly common.

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.

This “Specialty Testing” webinar will discuss the considerations physicians must weigh when evaluating suspected neuropathy patients with special emphasis put on small-fiber neuropathy and the most appropriate laboratory testing related to that phenotype.

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.

John Mills, Ph.D., explains Mayo Clinic Laboratories’ approach to MAG antibody testing. The ELISA-based assay uses higher reference ranges and human MAG antigen to detect MAG antibodies, which are associated with a rare, hard-to-treat condition known as DADS neuropathy.

Dr. Bornhorst explains orexin testing's role in diagnosing type 1 narcolepsy and the significance of the test's availability through Mayo Clinic Laboratories.

The standard test for the diagnosis of narcolepsy is the multiple sleep latency test (MSLT). The MSLT is a complex test to perform as well as to interpret. The orexin-A/hypocretin-1 test is a sensitive and specific alternative to the MSLT to diagnose type 1 narcolepsy.

In this month's "Hot Topic," Nicole Boczek, Ph.D., assistant professor and laboratory director in the Department of Laboratory Medicine and Pathology, and Sarah Barnett, M.S., CGC, discuss diagnostic exploratory testing, explain why it’s important to the field of many specialty practice areas, and help determine which testing may be the most valuable for a given patient.

In this month's "Hot Topic," Megan Hoenig, M.S., M.P.H., CGC, a licensed and certified genetic counselor with the Division of Laboratory Genetics and Genomics at Mayo Clinic Laboratories, describes the principles and benefits of Familial Variant Targeted Testing (FMTT).

Nicole Boczek, Ph.D., and Sarah Barnett, M.S., CGC, explain how Mayo Clinic Laboratories' whole genome sequencing provides comprehensive information for rapid diagnosis of hereditary disorders.

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.

Before testing at Mayo Clinic Laboratories, Barbara Domaille, Deborah Neville, Pamela Neville, and Rylie Ronnenberg thought there could be a genetic connection to the hip problems they shared. After the testing, they knew for sure.