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Test Catalog

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

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...

TREGS - Overview: T-Cell Subsets, Regulatory (Tregs), Blood

Evaluating patients with clinical features of IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked inheritance) and other primary immunodeficiencies, autoimmune diseases, allergy and asthma, and graft-vs-host disease...

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

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.

LAD1 - Overview: Leukocyte Adhesion Deficiency Type 1, CD11a/CD18 and CD11b/CD18 Complex Immunophenotyping, Blood

Aiding in the diagnosis of leukocyte adhesion deficiency syndrome type 1, primarily in patients younger than 18 years CD11a, CD11b, and CD18 phenotyping

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...

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...

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...

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

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.

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

STER - Overview: Sterols, Plasma

Investigation of possible desmosterolosis (desmosterol reductase deficiency), cerebrotendinous xanthomatosis, lathosterolosis, sitosterolemia, sterol C4 methyl oxidase deficiency, MEND (male EBP disorder with neurologic defects) syndrome,...

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...

HSMBS - Overview: Hepatosplenomegaly Panel, Blood Spot

As a component of the initial evaluation of a patient presenting with hepatosplenomegaly, using dried blood spot specimens This test is not useful for the identification of carriers. This test should not be used as a monitoring tool for...

GAL2 - Overview: Probability of Hepatocellular Carcinoma, Serum

Calculation of the risk for patients with chronic liver disease to develop hepatocellular carcinoma

OROT - Overview: Orotic Acid, Random, Urine

Evaluation of the differential diagnosis of hyperammonemia and hereditary orotic aciduria Sensitive indicator of ornithine transcarbamylase (OTC) activity after administration of allopurinol or a protein load to identify OTC carriers

GLYCC - Overview: Glycine Receptor Alpha1 IgG, Cell Binding Assay, Spinal Fluid

Evaluating patients with suspected autoimmune stiff-person spectrum disorders (stiff-person syndrome, stiff-limb, stiff trunk, or progressive encephalomyelitis with rigidity and myoclonus [PERM]) using spinal fluids specimens

GAL1 - Overview: GALAD Score, Serum

Calculation of the GALAD (gender, age, alpha-fetoprotein L3% [AFP-L3], AFP, des-gamma-carboxy prothrombin) model score for hepatocellular carcinoma development in patients with chronic liver disease

GDCU - Overview: Gadolinium/Creatinine Ratio, Urine

Measurement of gadolinium concentration for assessing chronic exposure and monitoring effectiveness of dialysis using a random urine collection

GLYCS - Overview: Glycine Receptor Alpha1 IgG, Cell Binding Assay, Serum

Evaluating patients with suspected autoimmune stiff-person spectrum disorders (stiff-person syndrome, stiff-limb, stiff trunk or progressive encephalomyelitis with rigidity and myoclonus [PERM]) using serum specimens

PBU - Overview: Lead, 24 Hour, Urine

Detecting clinically significant lead exposure in 24-hour specimens This test is not a substitute for blood lead screening.

BHSF - Overview: Beta-Human Chorionic Gonadotropin, Quantitative, Spinal Fluid

Aiding in the diagnosis of brain metastases of testicular cancer or extragonadal intracerebral germ cell tumors

MPLVS - Overview: MPL Exon 10 Mutation Detection, Varies

Aiding in the distinction between a reactive cytosis and a myeloproliferative neoplasm

JAKXR - Overview: JAK2 Exon 12-15 Sequencing, Polycythemia Vera Reflex, Varies

Aiding in the distinction between the myeloproliferative neoplasm polycythemia vera (PV) and other secondary erythrocytosis Evaluating for mutations within exons 12 to 15 of JAK2 in an algorithmic process as part of PVJAK / Polycythemia...

CYTH1 - Overview: T-Helper Cell Type 1 Cytokine Panel, Plasma

Assessment of plasma cytokine levels to understand the etiology of autoimmune and proinflammatory conditions when used in conjunction with clinical information and other laboratory testing

COMCP - Overview: Hereditary Common Cancer Panel, Varies

Evaluating hereditary cancer for patients with a personal or family history suggestive of a hereditary cancer syndrome using a panel of 36 genes Establishing a diagnosis of a hereditary cancer syndrome allowing for targeted cancer...

XCP - Overview: Hereditary Expanded Cancer Panel, Varies

Evaluating hereditary cancer in patients with a personal or family history suggestive of a hereditary cancer syndrome using a panel of 87 genes Establishing a diagnosis of a hereditary cancer syndrome allowing for targeted cancer...

PAI1 - Overview: Plasminogen Activator Inhibitor Antigen, Plasma

Identification of heredity elevation or deficiency of plasminogen activator inhibitor type 1 Determination of risk for veno-occlusive disease associated with bone marrow transplantation Differential diagnosis of impaired fibrinolysis...

AFH - Overview: Factor H Autoantibody, Serum

Detection and quantification of antibodies to factor H Monitoring patients with known factor H autoantibodies Aiding in the differential diagnosis of thrombotic microangiopathy and C3 glomerulopathies

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Hypersensitivity Testing and Initial Patient Management Algorithm 1. Saag M, Balu R, Phillips E, et al. High sensitivity of human leukocyte antigen-b*5701......

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G U ID E D ’EXPÉD ITIO N IN TERN ATIO N ALEENVOYER DES TESTS À LA MAYO CLINIC DEPUIS LE MONDE ENTIER 2 | GUIDE D’EXPÉDITION INTERNATIONALE TABLE DES MATIÈRES EXPÉDIER AUX ÉTATS-UNIS DEPUIS LE MONDE ENTIER 3 Avant...

Pediatric neuro-oncology informative cases - Insights

Neuro-oncology is a complex field undergoing rapid changes with the advancement and evolution of sophisticated genetic testing. Evidence continues to grow in support of broad molecular and cytogenetic analysis for patients with brain...

Myeloproliferative Neoplasm: Morphology, Molecular Updates and Cost-Effective Test Utilization - Insights

The diagnosis of Myeloproliferative Neoplasm (MPN) must include an integrated approach and combine the clinical findings with laboratory results. In our latest “Hot Topic,” Rong He, M.D., discusses the subclassification of MPNs and the use...

MCL Autoimmune Axonal Neuropathy A Comprehensive Testing Approach MC2775425

MCL Autoimmune Axonal Neuropathy Comprehensive Testing Approach NEUROLOGY AUTOIMMUNE AXONAL NEUROPATHY COMPREHENSIVE TESTING APPROACH Patients neuropathy variable sensory motor disturbance loss exaggerated