MCBPP - Overview: MayoComplete Bladder and Prostate Cancer Panel, Next-Generation Sequencing, Tumor
Primarily for determining if patients will respond to targeted therapy Assessment of microsatellite instability for immunotherapy decisions
CDHZ - Overview: Hereditary Diffuse Gastric Cancer Syndrome, CDH1, Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of hereditary diffuse gastric cancer (HDGC) syndrome Establishing a diagnosis of HDGC syndrome allowing for targeted cancer surveillance based on associated risks...
CMPRE - Overview: Family Member Comparator Specimen for Exome Sequencing, Varies
Submitting a biological family member's specimen to be used as a comparator for affected patients (probands) undergoing whole exome sequencing
MCSMP - Overview: MayoComplete Sarcoma Mutation Panel, Next-Generation Sequencing, Tumor
Primarily for identifying mutations that help in the diagnosis of specific soft tissue and bone tumors (sarcoma) Secondarily for identifying mutations that have therapeutic or prognostic significance Assessing microsatellite instability...
LQTSG - Overview: Long QT Syndrome Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of long QT syndrome (LQTS) Establishing a diagnosis of LQTS
MPSWB - Overview: Mucopolysaccharidosis, Blood
Supporting the biochemical diagnosis of mucopolysaccharidoses type I, II, III, IV, or VI Quantification of heparan sulfate, dermatan sulfate, and keratan sulfate in whole blood specimens
CPVTG - Overview: Catecholaminergic Polymorphic Ventricular Tachycardia Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of catecholaminergic polymorphic ventricular tachycardia (CPVT) Establishing a diagnosis of CPVT
MPCDS - Overview: mSMART, Plasma Cell Proliferative Disorder, FISH, Bone Marrow
Aiding in the diagnosis of new cases of multiple myeloma or other plasma cell proliferative disorders as a part of a profile Identifying prognostic markers based on the anomalies found
SMNCS - Overview: Spinal Muscular Atrophy Carrier Screening, Deletion/Duplication Analysis, Varies
General population carrier screening for spinal muscular atrophy (SMA) Carrier screening for reproductive partners of known SMA carriers Carrier screening for parents of a child with a known deletion of the survival motor neuron 1 gene...
PN23M - Overview: Streptococcus pneumoniae IgG Antibodies, 23 Serotypes, Serum
Assessing the IgG antibody response to active immunization with nonconjugated, 23-valent pneumococcal vaccines Assessing the IgG antibody response to active immunization with conjugated 13-valent, 15-valent and 20-valent pneumococcal...
Diagnosing specific soft tissue and bone tumors (sarcoma) based on the observed gene fusions (eg, PAX3/FOXO1 gene fusion observed in alveolar rhabdomyosarcoma, EWSR1-FLI1 gene fusion for Ewing sarcoma, SS18-SSX1/2 gene fusion for synovial...
CHRBM - Overview: Chromosome Analysis, Hematologic Disorders, Bone Marrow
Assisting in the diagnosis and classification of certain malignant hematological disorders in bone marrow specimens Evaluating the prognosis in patients with certain malignant hematologic disorders Monitoring effects of treatment...
NCDA - Overview: Congenital Dyserythropoietic Anemia Gene Panel, Next-Generation Sequencing, Varies
Confirming the diagnosis or carrier variant status of genes associated with congenital dyserythropoietic anemia Identifying variants within genes associated with phenotypic severity, allowing for predictive testing and further genetic...
Evaluation of pediatric bone marrow specimens for chromosomal abnormalities associated with hematologic malignancies for diagnostic and prognostic purposes in patients being considered for enrollment in Children's Oncology Group clinical...
CARGG - Overview: Comprehensive Arrhythmia Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of cardiac arrhythmia Establishing a diagnosis of a hereditary form of cardiac arrhythmia
CARBR - Overview: Carbamazepine Hypersensitivity Pharmacogenomics, Varies
Identifying individuals with increased risk of carbamazepine- or oxcarbazepine-associated cutaneous adverse reactions
OLIGU - Overview: Oligosaccharide Screen, Random, Urine
Screening for selected oligosaccharidosis
Detecting high-risk (HR) genotypes associated with the development of cervical cancer Aiding in triaging women with abnormal Pap smear test results Individual genotyping of human papillomavirus (HPV)-16 and/or HPV-18 if present Results...
PLPMA - Overview: Prolactin, Pituitary Macroadenoma, Serum
Quantifying prolactin in serum specimens where the high-dose hook effect is suspected (eg, presence of pituitary tumor with symptoms of prolactinoma, and lower than expected serum prolactin concentration)
PC1TS - Overview: Purkinje Cell Cytoplasmic Antibody Type 1 (PCA-1) Titer, Serum
Identifying female patients whose subacute cerebellar degeneration or peripheral neuropathy is due to a remote (autoimmune) effect of gynecologic or breast carcinoma Reporting an end titer result from serum specimens
IDENT - Overview: Organism Referred for Identification, Aerobic Bacteria
Identification of pure isolates of aerobic bacteria Differentiation of members of the Staphylococcus aureus complex (S aureus, Staphylococcus argenteus, Staphylococcus schweitzeri)
PSAU - Overview: Prostate-Specific Antigen (PSA) Ultrasensitive, Serum
As an aid in the detection of prostate cancer when used in conjunction with a digital rectal exam in men ages 50 years and older To aid in the prognosis and management of individuals diagnosed with prostate cancer Monitoring disease after...
VLCZ - Overview: Very Long Chain Acyl-CoA Dehydrogenase Deficiency, Full Gene Analysis, Varies
Confirmation of a diagnosis of very long chain acyl-CoA dehydrogenase (VLCAD) deficiency Carrier screening in cases where there is a family history of VLCAD deficiency, but an affected individual is not available for testing or...
DCORT - Overview: 11-Deoxycortisol, Serum
Diagnostic workup of patients with congenital adrenal hyperplasia Part of metyrapone testing in the workup of suspected secondary or tertiary adrenal insufficiency Part of metyrapone testing in the differential diagnostic workup of...
CLFAT - Overview: Cryptococcus Antigen Titer, Lateral Flow Assay, Spinal Fluid
Monitoring Cryptococcus antigen titers in cerebrospinal fluid Aiding in the diagnosis of cryptococcosis This test should not be used as a test of cure or to guide treatment decisions.
TYRSC - Overview: Tyrosinemia Follow-Up Panel, Self-Collect, Blood Spot
Monitoring of individuals with tyrosinemia type I (hepatorenal tyrosinemia) using a patient-collected specimen
HRTVC - Overview: Heartland Virus, RNA, Molecular Detection, PCR, Spinal Fluid
Aiding in the diagnosis of central nervous system infection caused by Heartland virus using spinal fluid specimens
INHA - Overview: Inhibin A, Tumor Marker, Serum
Aiding in the diagnosis of patients with granulosa cell tumors of the ovary when used in combination with inhibin B Monitoring of patients with granulosa cell tumors and epithelial mucinous-type tumors of the ovary known to secrete inhibin...
HSVPB - Overview: Herpes Simplex Virus (HSV), Molecular Detection, PCR, Blood
Aiding in the rapid diagnosis of disseminated disease due to herpes simplex virus (HSV) Qualitative detection of HSV DNA This test should not be used to screen asymptomatic patients.
LKM - Overview: Liver/Kidney Microsome Type 1 Antibodies, Serum
Evaluation of patients with liver disease of unknown etiology Evaluation of patients with suspected autoimmune hepatitis
LDBF - Overview: Lactate Dehydrogenase (LDH), Body Fluid
Identification of exudative pleural effusions Lactate dehydrogenase in pericardial fluids is not diagnostically useful.
IBDP2 - Overview: Inflammatory Bowel Disease Serology Panel, Serum
Distinguishing between ulcerative colitis and Crohn disease in patients for whom the specific diagnosis is unclear based on endoscopic, pathologic, and imaging evaluations This test is not useful for determining the extent of disease in...
GAAW - Overview: Acid Alpha-Glucosidase, Leukocytes
Diagnosis of Pompe disease
AMPIP - Overview: Amyloid Protein Identification, Paraffin, Mass Spectrometry
Definitive identification of amyloid proteins
ALLOI - Overview: Allo-isoleucine, Blood Spot
Evaluation of newborn screening specimens that test positive for branched-chain amino acids elevations Follow-up of patients with maple syrup urine disease
AN2TC - Overview: Antineuronal Nuclear Antibody Type 2 (ANNA-2) Titer, Spinal Fluid
Investigating middle-aged or older patients who present with unexplainable signs of midbrain/cerebellar/brain stem disorder and/or myelopathy, especially women with a previous history of breast cancer, and both sexes if there is a history...
AN2TS - Overview: Antineuronal Nuclear Antibody Type 2 (ANNA-2) Titer, Serum
Investigating middle-aged or older patients who present with unexplainable signs of midbrain/cerebellar/brain stem disorder and/or myelopathy, especially women with a previous history of breast cancer, and both sexes if there is a history...
Diagnosing autoimmune lymphoproliferative syndrome, primarily in patients younger than 45 years
BETV2 - Overview: BET v2 (Profilin), IgE, Serum
Evaluation of patients suspected birch pollen allergy Evaluation of patients with suspected peanut allergy Evaluation of patients with oral allergy syndrome to other pollens or plant-based foods Testing for IgE antibodies is not useful...
PMET - Overview: Metanephrines, Fractionated, Free, Plasma
Screening test for presumptive diagnosis of catecholamine-secreting pheochromocytomas or paragangliomas
MNB - Overview: Manganese, Blood
Evaluation of central nervous system symptoms, similar to Parkinson disease, in manganese (Mn) miners and processors Characterization of liver cirrhosis Therapeutic monitoring in treatment of cirrhosis, parenteral nutrition-related Mn...
SM - Overview: Smith (Sm) Antibodies, IgG, Serum
Evaluating patients with clinical features suggestive of antinuclear antibody associated connective tissue disease and the confirmation of a diagnosis of systemic lupus erythematosus. Testing for Smith antibodies is not useful in patients...
CRCOF - Overview: Chromium and Cobalt, Synovial Fluid
Monitoring metallic prosthetic implant wear and local tissue destruction in failed hip arthroplasty constructs This test is not useful for assessment of vitamin B12 activity.
SLFAT - Overview: Cryptococcus Antigen Titer, Lateral Flow Assay, Serum
Monitoring Cryptococcus antigen titers in serum Aiding in the diagnosis of cryptococcosis This test should not be used as a test of cure or to guide treatment decisions.
KRASD - Overview: Cell-Free DNA KRAS 12, 13, 61,146, Blood
An alternative to invasive tissue biopsies for the determination of KRAS 12, 13, 61,146 (G12A, G12C, G12D, G12R, G12S, G12V, G13D, Q61K, Q61L, Q61R, Q61H, and A146T) mutation status Detecting molecular markers associated with response or...
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
HVA - Overview: Homovanillic Acid, 24 Hour, Urine
Screening children for catecholamine-secreting tumors using a 24-hour urine collection when requesting homovanillic acid only Monitoring neuroblastoma treatment Screening patients with possible inborn errors of catecholamine metabolism
GSH - Overview: Glutathione, Blood
Evaluation of neonatal hyperbilirubinemia, favism or chronic or episodic hemolysis or jaundice Evaluation for gamma-glutamylcysteine synthetase deficiency Evaluation for glutathione synthetase deficiency causing hemolytic anemia...
HGBCE - Overview: Hemoglobin Variant, A2 and F Quantitation, Blood
Monitoring patients with sickling disorders who have received hydroxyurea or transfusion therapy This test is not intended for diagnostic purposes. This test is not useful for screening purposes.
SAFB - Overview: Acid-Fast Smear for Mycobacterium, Varies
Detection of acid-fast bacilli in clinical samples
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