TALMF - Overview: T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Specified FISH, Varies
Detecting recurrent common chromosome abnormalities associated with T-cell acute lymphoblastic leukemia/lymphoma (T-ALL) using client-specified probes An adjunct to conventional chromosome studies in patients with T-ALL Evaluating...
GNMTC - Overview: Macro/Microthrombocytopenia Gene Panel, Next-Generation Sequencing, Varies
Evaluating hereditary macro- or microthrombocytopenia disorders in patients with a personal or family history suggestive of a hereditary macro- or microthrombocytopenia disorder Diagnosing hereditary macro- or microthrombocytopenia...
BCELL - Overview: B-Cell and Antibody Deficiency Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited primary B-cell disorder or humoral immunodeficiency Establishing a diagnosis of a primary B-cell disorder or humoral...
TALAF - Overview: T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), FISH, Adult, Varies
Detecting, at diagnosis, recurrent common chromosome abnormalities associated with T-cell acute lymphoblastic leukemia/lymphoma (T-ALL) in adult patients As an adjunct to conventional chromosome studies in patients with T-ALL Evaluating...
NEPHP - Overview: Comprehensive Nephrology Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary kidney disease Establishing a diagnosis for a variety of hereditary kidney conditions including focal segmental glomerulosclerosis,...
GNSPD - Overview: Platelet Storage Pool Deficiency Gene Panel, Next-Generation Sequencing, Varies
Evaluating hereditary platelet storage pool deficiencies in patients with a personal or family history suggestive of a hereditary platelet storage pool deficiency Diagnosing hereditary platelet storage pool deficiencies for patients in...
PLSD - Overview: Lysosomal and Peroxisomal Disorders Screen, Blood Spot
Evaluation of patients with a clinical presentation suggestive of a lysosomal disorder, specifically Gaucher, infantile neurovisceral or chronic visceral acid sphingomyelinase deficiency,, Pompe, Krabbe, or Fabry disease, or...
PBGU - Overview: Porphobilinogen, Quantitative, Random, Urine
First-order test for evaluating a suspected acute porphyria: acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria
PC2TS - Overview: Purkinje Cell Cytoplasmic Antibody Type 2 (PCA-2) Titer, Serum
Evaluating patients who present with a subacute neurological disorder of undetermined etiology and have risk factors for lung cancer Reporting an end titer result from serum specimens
PPFE - Overview: Protoporphyrins, Fractionation, Whole Blood
Evaluating patients with possible diagnoses of erythropoietic protoporphyria or X-linked dominant protoporphyria Establishing a biochemical diagnosis of erythropoietic protoporphyria and X-linked dominant protoporphyria
MTRNA - Overview: Trichomonas vaginalis, Nucleic Acid Amplification, Varies
Detecting Trichomonas vaginalis in prostatic massage (VBIII) fluid or male urethral swabs
VWFMP - Overview: von Willebrand Factor Multimer Analysis, Plasma
As a reflex component of several coagulation consultation unit codes, when indicated When results of complementary laboratory tests are abnormally low or discordant (eg, F8A / Coagulation Factor VIII Activity Assay, Plasma; VWACT / von...
CIMRP - Overview: Coccidioides immitis/posadasii, Molecular Detection, PCR, Varies
Rapid detection of Coccidioides DNA, preferred method An aid in diagnosing coccidioidomycosis
SMAS - Overview: Smooth Muscle Antibody Screen, Serum
Evaluation of patients with hepatitis of unknown origin associated with hypergammaglobulinemia and/or abnormal liver enzymes
NIUCR - Overview: Nickel/Creatinine Ratio, Random, Urine
Preferred specimen type for biomonitoring nickel exposure
PRSSZ - Overview: PRSS1 Gene, Full Gene Analysis, Varies
Confirmation of suspected clinical diagnosis of hereditary pancreatitis (HP) in patients with chronic pancreatitis Identification of familial PRSSI mutation to allow for predictive and diagnostic testing in family members
CARFT - Overview: Carbamazepine, Free and Total, Serum
Monitoring carbamazepine (free and total) therapy in patients who are uremic
TIWB - Overview: Titanium, Blood
Detecting and monitoring titanium exposure and potential implant status in patients with orthopedic implants
CHAGS - Overview: Trypanosoma cruzi Total Antibody, Enzyme-Linked Immunosorbent Assay, Serum
Diagnosis of chronic Trypanosoma cruzi infection (Chagas disease)
IGE - Overview: Immunoglobulin E (IgE), Serum
Evaluating patients with suspected diseases associated with elevations in total immunoglobulin E (IgE), including allergic disease, primary immunodeficiencies, infections, malignancies, or other inflammatory diseases Diagnostic evaluation...
IGAS - Overview: IgA Subclasses, Serum
Investigation of immune deficiency due to IgA2 deficiency Evaluating patients with anaphylactic transfusion reactions
GALP - Overview: Galactose, Quantitative, Plasma
Screening for galactosemia
LGBBS - Overview: Globotriaosylsphingosine, Blood Spot
Screening of patients with Fabry disease using dried blood spots when a serum specimen is not available This test should not be used for newborn screening followup.
HPFH - Overview: Hemoglobin F Distribution, Blood
Distinguishing large deletional hereditary persistence of fetal hemoglobin from other conditions with increased percentage of fetal hemoglobin (Hb F) Determining the distribution of Hb F within red blood cells
FFRWB - Overview: Friedreich Ataxia, Frataxin, Quantitative, Blood
Diagnosing individuals with Friedreich ataxia in whole blood specimens Monitoring frataxin levels in patients with Friedreich ataxia This test is not useful for carrier detection.
LEGRP - Overview: Legionella species, Molecular Detection, PCR, Varies
Sensitive and rapid diagnosis of pneumonia caused by Legionella species The assay is not recommended as a test of cure because bacteria nucleic acids may persist after successful treatment.
LDLD - Overview: Low-Density Lipoprotein (LDL) Cholesterol, Beta-Quantification, Serum
Evaluation of cardiovascular risk Verification of estimated low-density lipoprotein cholesterol (LDL-C) in patients with hypertriglyceridemia or extremely low LDL-C Diagnosis of familial hypobetalipoproteinemia and abetalipoproteinemia
MUCN6 - Overview: Mucin 6, Immunostain, Technical Component Only
Aiding in subtyping intraductal papillary mucinous neoplasms as part of an immunopanel
KKRP - Overview: Kingella kingae, Molecular Detection, PCR, Varies
Aiding in the diagnosis of Kingella kingae infection using tissue or synovial fluid specimens
MUCN5 - Overview: Mucin 5AC, Immunostain, Technical Component Only
Aiding in subtyping intraductal papillary mucinous neoplasms
ALBR - Overview: Albumin, Random, Urine
Assessing the potential for early onset of nephropathy in diabetic patients using random urine specimens
ACTH - Overview: Adrenocorticotropic Hormone, Plasma
Determining the cause of hypercortisolism and hypocortisolism
AN3TC - Overview: Antineuronal Nuclear Antibody Type 3 (ANNA-3) Titer, Spinal Fluid
Evaluating patients who present with a subacute neurological disorder of undetermined etiology and have risk factors for primary lung carcinoma Reporting an end titer result from cerebrospinal fluid specimens
AN1TC - Overview: Antineuronal Nuclear Antibody-Type 1 (ANNA-1) Titer, Spinal Fluid
Diagnosis of paraneoplastic autoimmune neuropathies, encephalomyeloradiculopathies, related neurologic disorders, and intestinal pseudo-obstruction/dysmotility associated with small-cell lung carcinoma Reporting an end titer result from...
Diagnostic workup of patients with a high probability of BCR-ABL1-positive hematopoietic neoplasms, particularly chronic myeloid leukemia and Ph+ acute lymphoblastic leukemia (B-lymphoblastic leukemia), to provide a pretreatment...
BAP - Overview: Bone Alkaline Phosphatase, Serum
Diagnosis and assessment of severity of metabolic bone disease including Paget disease, osteomalacia, and other states of high bone turnover Monitoring efficacy of antiresorptive therapies including postmenopausal osteoporosis treatment...
Detecting cobalt toxicity Monitoring metallic prosthetic implant wear This test is not useful for assessment of vitamin B12 activity.
NMHR1 - Overview: N-Methylhistamine, Random, Urine
Screening for and monitoring of mastocytosis and disorders of systemic mast-cell activation, such as anaphylaxis and other forms of severe systemic allergic reactions as a part of a random urine collection profile Monitoring therapeutic...
Confirmation of an elevated urinary nickel concentration This test is not useful for the investigation of nickel hypersensitivity.
NICOU - Overview: Nicotine and Metabolites, Random, Urine
Monitoring tobacco use Monitoring patients on nicotine-replacement therapy for concurrent use of tobacco products
PARVP - Overview: Parvovirus B19, Molecular Detection, PCR, Plasma
Diagnosing parvovirus B19 infection in plasma specimens
T4FT4 - Overview: T4 (Thyroxine), Total and Free, Serum
Assessing thyroid function when thyroid function disorders are suspected
CRBF - Overview: Creatinine, Body Fluid
Identifying the presence of urine as a cause for accumulation of fluid in a body compartment Measuring the ultrafiltration capacity of the peritoneal membrane in patients receiving peritoneal dialysis
CUT - Overview: Copper, Liver Tissue
Diagnosing Wilson disease and primary biliary cirrhosis using liver tissue specimens
BRAFB - Overview: Cell-Free DNA BRAF V600, Blood
An alternative to invasive tissue biopsies for the determination of BRAF V600E and V600K alterations Identification of patients with cancer who are most likely to benefit from targeted therapies This test is not intended for serial...
CDUOE - Overview: Cadmium Occupational Exposure, Random, Urine
Detecting occupational exposure to cadmium, a toxic heavy metal, using random urine specimens
T790M - Overview: Cell-Free DNA EGFR T790M Mutation Analysis, Blood
Determination of EGFR T790M mutation status in blood specimens as an alternative to invasive tissue biopsies Identification of patients with non-small cell lung cancer who harbor a T790M mutation and may benefit from specific EGFR-targeted...
CARTF - Overview: Carbamazepine Profile, Serum
Monitoring patients exhibiting symptoms of carbamazepine toxicity whose total serum carbamazepine concentration is within the therapeutic range, but who may be producing significant levels of the active metabolite epoxide Free...
CORTF - Overview: Cortisol, Free, Serum
Assessment of cortisol status in cases where there is known or a suspected abnormality in cortisol-binding proteins or albumin Assessment of adrenal function in the critically ill or stressed patient, thus preventing unnecessary use of...
CEE20 - Overview: CD20 Cell Expression Evaluation, Varies
Detecting cell-surface antigens on malignant cells that are potential therapeutic antibody targets, specifically CD20 Determining the eligibility of patients for monoclonal antibody therapies Monitoring response to the therapeutic...
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