CEAPC - Overview: Carcinoembryonic Antigen (CEA), Pancreatic Cyst Fluid
When used in conjunction with imaging studies, cytology, and other pancreatic cyst fluid tumor markers: -Distinguishing between mucinous and nonmucinous pancreatic cysts -Determining the likely type of malignant pancreatic cyst
DESG3 - Overview: Desmoglein 3 (DSG3) Immunostain, Technical Component Only
Classification of squamous cell carcinomas
GLYP3 - Overview: Glypican-3 Immunostain, Technical Component Only
Differentiating hepatocellular carcinomas from other malignancies and hepatic adenomas
CASF - Overview: IgG/Albumin Ratio, Spinal Fluid
Assessment of cerebrospinal fluid (CSF) IgG/albumin ratio in the absence of a paired CSF and serum specimen
TB2LN - Overview: Susceptibility, Mycobacterium tuberculosis Complex, Second Line, Varies
Determination of Mycobacterium tuberculosis complex minimal inhibitory concentrations to second-line antimicrobial agents
CIMT - Overview: Coccidioides immitis/posadasii, Molecular Detection, PCR, Paraffin, Tissue
Rapid detection of Coccidioides DNA Aiding in the diagnosis of coccidioidomycosis using paraffin-embedded tissue specimens
PTEM - Overview: Platelet Transmission Electron Microscopic Study, Whole Blood
Diagnosing platelet disorders
CHOU - Overview: Carbohydrate, Urine
Screening for conditions associated with increased excretion of carbohydrates, including inborn errors of fructose and galactose metabolism. This test is not recommended as a follow up test for abnormal newborn screening for galactosemia.
HK36M - Overview: Histone H3 K36M Mutant (H3F3 K36M) Immunostain, Technical Component Only
Diagnosis of chondroblastoma
GLUTS - Overview: Glutamine Synthetase Immunostain, Technical Component Only
Classification of hepatic adenomas and the identification of focal nodular hyperplasia
TIA1 - Overview: T-Cell Intracellular Antigen 1 (TIA-1) Immunostain, Technical Component Only
Characterizing neoplasms of cytotoxic T cells or natural killer cells
TRPTS - Overview: Tryptase Immunostain, Technical Component Only
A marker of mast cells
TTF40 - Overview: TTF41 (SPT24) + p40 Immunostain, Technical Component Only
Thyroid transcription factor 1 aids in the classification of carcinomas of unknown origin p40 aids in the classification of carcinomas and lymphomas
CD163 - Overview: CD163 Immunostain, Technical Component Only
Identification of cells of monocytic/histiocytic lineage, expressed late in maturation
C3FX - Overview: C3 Complement, Functional, Serum
Diagnosis of C3 deficiency Investigation of a patient with undetectable total complement level
C5FX - Overview: C5 Complement, Functional, Serum
Diagnosis of C5 deficiency Investigation of a patient with an undetectable total complement level
C8FX - Overview: C8 Complement, Functional, Serum
Diagnosis of C8 deficiency Investigation of a patient with an undetectable total hemolytic complement level
C7FX - Overview: C7 Complement, Functional, Serum
Diagnosis of C7 deficiency Investigation of a patient with an undetectable total complement level
FOXP1 - Overview: FOXP1 Immunostain, Technical Component Only
Classification of lymphomas
C6FX - Overview: C6 Complement, Functional, Serum
Diagnosis of C6 deficiency Investigation of a patient with an undetectable total complement level
LANGR - Overview: Langerin Immunostain, Technical Component Only
Visualization of normal and neoplastic Langerhans cells
EIACD - Overview: Clostridioides difficile Toxin, EIA, Feces
Diagnosing the presence of toxigenic Clostridioides difficile
ASYNC - Overview: Alpha-Synuclein Protein Aggregates, Spinal Fluid
Detection of pathogenic alpha-synuclein (alpha-synuclein aggregates) in adult patients being assessed for clinically uncertain cognitive decline or clinically uncertain parkinsonian syndromes
OCT4 - Overview: OCT3/4 Immunostain, Technical Component Only
Identification of germ cell tumors
PMHLH - Overview: Postmortem Primary Hemophagocytic Lymphohistiocytosis (HLH) Gene Panel, Tissue
Providing a comprehensive postmortem genetic evaluation in the setting of a death attributed to primary hemophagocytic lymphohistiocytosis Identifying a disease-causing variant in the decedent, which may assist with risk assessment and...
VHLZZ - Overview: Von Hippel Lindau Syndrome, VHL, Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of Von Hippel-Lindau (VHL) syndrome Establishing a diagnosis of a VHL allowing for targeted cancer surveillance based on associated risks Identifying genetic variants...
META3 - Overview: Metanephrines with 3-Methoxytyramine, 24 Hour, Urine
A first- and second-tier screening test for the presumptive diagnosis of catecholamine-secreting pheochromocytomas and paragangliomas
AHUSD - Overview: Atypical Hemolytic Uremic Syndrome Complement Panel, Serum and Plasma
Detecting deficiencies in the alternative pathway that can cause atypical-hemolytic uremic syndrome, dense deposit disease, and C3 glomerulonephritis A second-tier test that aids in the differential diagnosis of thrombotic...
CRMP1 - Overview: Cardiovascular Risk Marker Panel, Serum
Assessment for risk of developing cardiovascular disease, major adverse cardiovascular events, or ischemic cerebrovascular events
IGFB3 - Overview: Insulin-Like Growth Factor-Binding Protein 3, Serum
Diagnosing growth disorders Diagnosing adult growth hormone deficiency Monitoring of recombinant human growth hormone treatment As a possible adjunct to insulin-like growth factor 1 and growth hormone in the diagnosis and follow-up of...
PTNZ - Overview: PTEN Hamartoma Tumor Syndrome, PTEN Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of PTEN hamartoma tumor syndrome (PHTS) Establishing a diagnosis of PHTS allowing for targeted cancer surveillance based on associated risks Identifying variants within...
QFT4 - Overview: QuantiFERON-TB Gold Plus, Blood
Indirect test for Mycobacterium tuberculosis infection, to be used in conjunction with risk assessment, radiography, and other medical and diagnostic evaluations This test is not recommended for use for diagnosis of active tuberculosis...
HCYSS - Overview: Homocysteine, Total, Serum
An aid for screening patients suspected of having an inherited disorder of methionine metabolism including: -Cystathionine beta-synthase deficiency (homocystinuria) -Methylenetetrahydrofolate reductase deficiency and its thermolabile...
HCYSP - Overview: Homocysteine, Total, Plasma
An aid for screening patients suspected of having an inherited disorder of methionine metabolism including: -Cystathionine beta-synthase deficiency (homocystinuria) -Methylenetetrahydrofolate reductase deficiency and its thermolabile...
PGXQP - Overview: Focused Pharmacogenomics Panel, Varies
Preemptive or reactive genotyping of patients for pharmacogenomic purposes Providing an assessment for genes with strong drug-gene associations
MGMR - Overview: Myasthenia Gravis Evaluation with Muscle-Specific Kinase (MuSK) Reflex, Serum
Diagnosing autoimmune myasthenia gravis (MG) in adults and children Distinguishing autoimmune from congenital MG in adults and children or other acquired forms of neuromuscular junction transmission disorders Establishing a quantitative...
KRABZ - Overview: Krabbe Disease, Full Gene Analysis and Large (30 kb) Deletion, Varies
Second-tier test for confirming a diagnosis of Krabbe disease Carrier testing for individuals with a family history of Krabbe disease in the absence of known sequence variants in the family
MGLE - Overview: Myasthenia Gravis/Lambert-Eaton Myasthenic Syndrome Evaluation, Serum
Confirming the autoimmune basis of a defect in neuromuscular transmission (eg, myasthenia gravis [MG], Lambert-Eaton myasthenic syndrome [LEMS]) Distinguishing LEMS from autoimmune forms of MG Providing a quantitative autoantibody...
ARVGG - Overview: Arrhythmogenic Cardiomyopathy Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of arrhythmogenic cardiomyopathy Establishing a diagnosis of a hereditary form of arrhythmogenic cardiomyopathy
MCKCP - Overview: MayoComplete Kidney Cancer Panel, Next-Generation Sequencing, Tumor
Identifying specific mutations to assist in tumor diagnosis/classification Assisting in the clinical management of patients with renal cell carcinoma Assessment of microsatellite instability for immunotherapy decisions
SMN1Z - Overview: SMN1 Gene, Full Gene Analysis, Varies
Confirming a diagnosis of spinal muscular atrophy due to nucleotide variants in SMN1 gene Second-tier carrier screening when there is a family history of spinal muscular atrophy, but an affected individual is not available for testing, or...
DPYDQ - Overview: Dihydropyrimidine Dehydrogenase Genotype, Varies
Identifying individuals with genetic variants in DPYD who are at increased risk of toxicity when prescribed 5-fluorouracil (5-FU) or capecitabine chemotherapy treatment
PEANT - Overview: Peanut, IgE with Reflex to Peanut Components, IgE, Serum
Evaluating patients with suspected peanut allergy Evaluating patients with possible peanut cross-reactivity
NAGS - Overview: Hexosaminidase A and Total Hexosaminidase, Serum
Carrier detection and diagnosis of Tay-Sachs disease and Sandhoff disease Ruling out I-cell disease This test is not useful for pregnant females or those treated with hormonal contraception.
HCMGG - Overview: Hypertrophic Cardiomyopathy Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of hypertrophic cardiomyopathy Establishing a diagnosis of a hereditary form of hypertrophic cardiomyopathy
LYMPV - Overview: Lyme Disease, Molecular Detection, PCR, Varies
Supporting the diagnosis of Lyme disease in conjunction with serologic testing Specific indications including testing skin biopsies when a rash lesion is not characteristic of erythema migrans and testing synovial fluid or synovium to...
G6PDC - Overview: Glucose 6 Phosphate Dehydrogenase Enzyme Activity, Blood
Evaluation of individuals with episodic or chronic Coombs-negative nonspherocytic hemolytic anemia Rapid testing to assess glucose-6-phosphate dehydrogenase (G6PD) enzyme capacity prior to rasburicase or other therapies that may cause...
NENZ - Overview: Red Blood Cell Enzyme Disorders Gene Panel, Next-Generation Sequencing, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an underlying red blood cell enzymopathy Identifying variants within genes associated with phenotypic severity, allowing for...
MPSER - Overview: Mucopolysaccharides Quantitative, Serum
Quantification of dermatan sulfate, heparan sulfate, and keratan sulfate in serum to support the biochemical diagnosis of mucopolysaccharidoses types I, II, III, IV, VI, or VII
PAVAL - Overview: Paraneoplastic, Autoantibody Evaluation, Serum
Serological evaluation of patients who present with a subacute neurological disorder of undetermined etiology, especially those with known risk factors for cancer Directing a focused search for cancer Investigating neurological symptoms...
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...
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