MPNR - Overview: Myeloproliferative Neoplasm, JAK2 V617F with Reflex to CALR and MPL, Varies
Aiding in the distinction between a reactive cytosis and a chronic myeloproliferative disorder Evaluating for variants in JAK2, CALR, and MPL genes in an algorithmic process
RPDE - Overview: Rapidly Progressive Dementia Evaluation, Spinal Fluid
Evaluation of individuals presenting with rapidly progressive dementia of uncertain disease etiology and a differential diagnosis of Creutzfeldt-Jakob disease and rapidly progressive Alzheimer disease
ADEVL - Overview: Alzheimer Disease Evaluation, Spinal Fluid
Assessment of adults with cognitive impairment being evaluated for Alzheimer disease and other causes of cognitive impairment These assays should not be used to predict the development of dementia or other neurologic conditions or to...
Identification of neoplasms expressing programmed cell death 1-ligand 1 (clone SP263)
HPP - Overview: Pancreatic Polypeptide, Plasma
Detecting pancreatic endocrine tumors Assessing vagal nerve function after meal or sham feeding
EMAT - Overview: Endomysial Antibodies, IgA, Titer, Serum
Confirmation of a positive IgA-endomysial antibodies result
Heavy and light chain pair quantitation may be useful for: 1. Distinguishing between broadly migrating monoclonal proteins and restricted polyclonal immunoglobulin patterns on serum electrophoresis. 2. Quantitating monoclonal IgG proteins...
AC1Q - Overview: Anti-C1q Antibodies, IgG, Serum
Evaluating patients with suspected anti-C1q vasculitis Predicting renal involvement in patients with systemic lupus erythematosus Detection of anti-C1q antibodies in serum
NARC - Overview: Narcolepsy-Associated Antigen, HLA-DQB1 Typing, Blood
Ruling out a diagnosis of narcolepsy
GALCR - Overview: Galactocerebrosidase Reflex, Leukocytes
Diagnosis of Krabbe disease as a confirmatory reflex of the six-enzyme panel Follow-up testing for evaluation of an abnormal newborn screening result for Krabbe disease This test is not recommended for carrier detection because of the...
CALX - Overview: CALR Mutation Analysis, Myeloproliferative Neoplasm (MPN), Reflex, Varies
Aiding in the distinction between a reactive cytosis and a chronic myeloproliferative disorder Evaluating mutations in CALR in an algorithmic process for the MPNR / Myeloproliferative Neoplasm, JAK2 V617F with Reflex to CALR and MPL,...
PSPTG - Overview: Phosphatidylserine/Prothrombin Antibody, IgG, Serum
Detecting IgG antibodies against phosphatidylserine/prothrombin complex in patients with strong suspicion of antiphospholipid syndrome (APS) who are negative for the APS criteria laboratory tests (lupus anticoagulant, IgG and IgM...
GP210 - Overview: GP210 Antibody, IgG, Serum
Evaluating the risk of primary biliary cholangitis in anti-mitochondrial antibody (AMA)-negative patients by identification of gp210 antibodies Estimating risk in AMA-positive patients with incomplete feature of disease
FGF1F - Overview: FGFR1 (8p11.2) Amplification, FISH, Tissue
Providing prognostic information and guiding treatment primarily for patients with squamous cell carcinoma of the lung, breast, esophagus, thymus, and other locations
Diagnosis of a neuromyelitis optica spectrum disorder (NMOSD) Diagnosis of autoimmune AQP4 channelopathy Diagnosis of neuromyelitis optica (NMO) Distinguishing NMOSD from multiple sclerosis early in the course of disease
OXNP - Overview: Oxysterols, Plasma
Investigating a possible diagnosis of Niemann-Pick disease types A, B, or C using plasma specimens Monitoring of individuals with Niemann-Pick type C disease This test is not useful for the identification of carriers.
SP100 - Overview: SP100 Antibody, IgG, Serum
Evaluating the risk of primary biliary cholangitis in anti-mitochondrial antibody (AMA) negative patients by identification of Sp100 antibodies Estimating risk in AMA-positive patients with incomplete feature of disease
CTBID - Overview: Culture Referred for Identification, Mycobacterium and Nocardia, Varies
Rapid identification to the species level for Mycobacterium species, Nocardia species, and other aerobic actinomycete genera and species from pure culture isolates
Evaluating for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and related demyelinating peripheral neuropathies
ADNA1 - Overview: Double-Stranded DNA (dsDNA) Antibodies, IgG, Serum
Evaluating patients with clinical features or at-risk for systemic lupus erythematosus (SLE) Monitoring disease activity, as an adjunct test, in patients with SLE previously positive for double-stranded DNA IgG antibodies
EPOR - Overview: Erythropoietin Receptor (EPOR) Gene, Exon 8 Sequencing, Whole Blood
Assessing EPOR in the evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit
OXYWB - Overview: Oxysterols, Blood
Investigating a possible diagnosis of Niemann-Pick disease type A, B, or C using whole blood specimens Monitoring of individuals with Niemann-Pick type C disease This test is not useful for the identification of carriers.
17OHP - Overview: 17-Hydroxypregnenolone, Serum
As an ancillary test for congenital adrenal hyperplasia (CAH), particularly in situations in which a diagnosis of both 21- and 11-hydroxylase deficiency have been ruled out Confirming a diagnosis of 3-beta-hydroxysteroid dehydrogenase...
PANCP - Overview: Hereditary Pancreatic Cancer Panel, Varies
Evaluating patients with a personal or family history suggestive of a hereditary pancreatic cancer syndrome Establishing a diagnosis of a hereditary pancreatic cancer syndrome, allowing for targeted cancer surveillance based on associated...
CVHBG - Overview: Comprehensive Cerebrovascular Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of a monogenic condition in which there is an increased risk for a cerebrovascular accident Establishing a diagnosis of a monogenic condition in which...
CATPF - Overview: Cat Epithelium, IgE, with Reflex to Cat Epithelium Components, IgE, Serum
Evaluating patients with suspected cat allergy
PSYCF - Overview: Psychosine, Spinal Fluid
Aiding in the biochemical diagnosis of Krabbe disease using cerebrospinal fluid specimens Follow-up of individuals affected with Krabbe disease Follow-up testing after an abnormal newborn screening result for Krabbe disease Monitoring...
PR3 - Overview: Proteinase 3 Antibodies, IgG, Serum
Evaluating patients with clinical features of anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis, specifically granulomatosis with polyangiitis (GPA), microscopic polyangiitis, and eosinophilic granulomatosis with...
7AC4 - Overview: 7AC4, Bile Acid Synthesis, Serum
Screening for bile acid malabsorption in patients with irritable bowel syndrome with diarrhea
VH - Overview: Vanillylmandelic Acid and Homovanillic Acid, Random, Urine
Preferred first test for screening for catecholamine-secreting tumors in a random urine specimen when requesting both homovanillic acid and vanillylmandelic acid Supporting a diagnosis of neuroblastoma Monitoring patients with a treated...
VMA - Overview: Vanillylmandelic Acid, 24 Hour, Urine
Screening children for catecholamine-secreting tumors using a 24-hour urine collection when requesting testing for vanillylmandelic acid only Supporting a diagnosis of neuroblastoma Monitoring patients with a treated neuroblastoma
RNP - Overview: RNP Antibodies, IgG, Serum
Evaluating patients with signs and symptoms of a connective tissue disease in whom the test for antinuclear antibodies is positive Testing for ribonucleoprotein particle antibodies is not useful in patients without demonstrable...
SSB - Overview: SS-B/La Antibodies, IgG, Serum
Evaluating patients with clinical features or at-risk for connective tissue disease, especially Sjögren syndrome.
JO1 - Overview: Jo 1 Antibodies, IgG, Serum
Evaluating patients with clinical features of idiopathic inflammatory myositis, especially those with clinical features suggestive of anti-synthetase syndrome or interstitial lung disease
AGNTC - Overview: Anti-Glial/Neuronal Nuclear Antibody-Type 1 (AGNA-1) Titer, Spinal Fluid
Reporting an end titer result from cerebrospinal fluid (CSF) specimens Serological evaluation using CSF specimens from patients who present with a subacute neurological disorder of undetermined etiology, especially those with risk factors...
Aids in monitoring a previously confirmed diagnosis of B-cell acute lymphoblastic leukemia
MPO - Overview: Myeloperoxidase Antibodies, IgG, Serum
Evaluating patients with clinical features anti-neutrophil cytoplasmic antibody associated vasculitis, specifically granulomatosis with polyangiitis, microscopic polyangiitis (MPA), and eosinophilic granulomatosis with polyangiitis...
DOCK8 - Overview: Dedicator of Cytokinesis 8 (DOCK8) Deficiency, Blood
Aiding in the diagnosis of dedicator of cytokinesis 8 (DOCK8) deficiency This test is not useful for assessing DOCK8 carrier status.
CJDEI - Overview: Creutzfeldt-Jakob Disease Evaluation Interpretation, Spinal Fluid
Interpretation of the Creutzfeldt-Jakob Disease Evaluation
AGNTS - Overview: Anti-Glial/Neuronal Nuclear Antibody-Type 1 (AGNA-1) Titer, Serum
Reporting an end titer result from serum specimens Serological evaluation using serum specimens from patients who present with a subacute neurological disorder of undetermined etiology, especially those with risk factors for primary lung...
PREGN - Overview: Pregnenolone, Serum
An ancillary test for congenital adrenal hyperplasia, particularly in situations in which a diagnosis of both 21- and 11-hydroxylase deficiency have been ruled out Confirming a diagnosis of 3-beta-hydroxy dehydrogenase deficiency
ANCA - Overview: Cytoplasmic Neutrophil Antibodies, Serum
Evaluating patients with clinical features of ANCA-associated vasculitis, specifically granulomatosus with polyangiitis, microscopic polyangiitis, and eosinophilic granulomatosus with polyangiitis
PCDES - Overview: Pediatric Autoimmune Encephalopathy/CNS Disorder Evaluation, Serum
Evaluating children with autoimmune central nervous system disorders using serum specimens
RETF - Overview: Lung Cancer, RET (10q11) Rearrangement, FISH, Tissue
Identifying RET gene rearrangements in patients with late-stage, lung adenocarcinomas that are negative for epidermal growth factor receptor mutations and anaplastic lymphoma kinase rearrangements Fluorescence in situ hybridization (FISH)...
AMA - Overview: Mitochondrial Antibodies (M2), Serum
Establishing the diagnosis of primary biliary cholangitis This test is not useful for indicating the stage or prognosis of the disease or for monitoring the course of the disease.
AB2GP - Overview: Beta-2 Glycoprotein 1 Antibodies, IgA, Serum
Evaluating patients with suspected antiphospholipid syndrome by identification of beta-2 glycoprotein 1 IgA antibodies Evaluating patients at-risk for antiphospholipid syndrome (APS) who are negative for criteria APS tests Estimating the...
OXYBS - Overview: Oxysterols, Blood Spot
Investigating a possible diagnosis of Niemann-Pick disease types A, B, or C using blood spot specimens Monitoring of individuals with Niemann-Pick disease type C This test is not useful for the identification of carriers.
PBC2 - Overview: SP100 and GP210 Antibodies, IgG, Serum
Evaluating the risk of primary biliary cholangitis in anti-mitochondrial antibody (AMA)-negative patients by identification of Sp100 and gp210 antibodies Estimating risk in AMA-positive patients with incomplete feature of disease
2C19R - Overview: Cytochrome P450 2C19 Genotype, Varies
Identifying patients who may be at risk for altered metabolism of drugs that are modified by cytochrome P450 2C19 Predicting anticoagulation response to clopidogrel
KCSF - Overview: Immunoglobulin Kappa Free Light Chain, Spinal Fluid
Diagnosing multiple sclerosis and other demyelinating conditions Evaluating patients who present with a clinically isolated syndrome in which the patient reports symptoms (headaches, optic neuritis, fatigue, and many others, depending on...
helps in diagnosis, treatment, and prognosis of ALS and MS - Insights
neurofilament light chain (Nfl) proteins in blood, clinicians can better diagnose devastating diseases like ALS and MS, help predict disease progression, and better assess efficacy of existing drugs and trial therapies...
Frontotemporal dementia and ALS - Insights
Learn more about how detection of amyotrophic lateral sclerosis and frontotemporal dementia paved the way for gene-targeted therapies for patients.
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1939: Lou Gehrig Comes to Mayo Clinic #ThrowbackThursday - Insights
June 1939, his name became associated with an illness called amyotrophic lateral sclerosis (ALS). Today, ALS is known as Lou Gehrig’s Disease....
Hereditary Alzheimer's disease and dementia - Insights
Learn about our genetic testing for Alzheimer’s disease, amyotrophic lateral sclerosis (ALS), frontotemporal dementia, and CADASIL....