CEE49 - Overview: CD49d Cell Expression Evaluation, Varies
Detecting cell-surface antigens on malignant cells that are potential therapeutic antibody targets, specifically CD49d Determining the eligibility of patients for monoclonal antibody therapies Monitoring response to the therapeutic...
EAEBV - Overview: Epstein-Barr Virus Early Antigen, IgG, Serum
Diagnosis of Epstein Barr virus (EBV) infectious mononucleosis in cases when heterophile antibody test results are negative and EBV-specific serologic testing is inconclusive Aiding in the diagnosis of type 2 or type 3 nasopharyngeal...
AN3TS - Overview: Antineuronal Nuclear Antibody Type 3 (ANNA-3) Titer, Serum
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 serum specimens
HCMM - Overview: Homocysteine (Total), Methylmalonic Acid, and Methylcitric Acid, Blood Spot
Second-tier assay of newborn screening specimens when abnormal propionyl carnitine or methionine concentrations are identified in a primary newborn screen
OPTU - Overview: Orthostatic Protein, Timed Collection, Urine
Diagnosis of orthostatic proteinuria As a second-order test for additional characterization of proteinuria of less than 3 grams/24 hours, particularly in children or adolescents
A1APP - Overview: Alpha-1-Antitrypsin Phenotype, Serum
Identification of homozygous and heterozygous phenotypes of the alpha-1-antitrypsin deficiency
FUROC - Overview: UroVysion for Detection of Bladder Cancer, Urine
Monitoring for tumor recurrence in patients with a history of urothelial carcinoma involving the bladder or upper urinary tract Assessing patients with hematuria for urothelial carcinoma
AFPSF - Overview: Alpha-Fetoprotein (AFP), Spinal Fluid
An adjunct in the diagnosis of central nervous system (CNS) germinomas and meningeal carcinomatosis Evaluating the presence of germ-cell tumors in the CNS, in conjunction with cerebrospinal fluid (CSF) beta-human chorionic gonadotropin...
PRCAL - Overview: Procalcitonin, Serum
Monitoring antibiotic therapy and all-cause mortality for patients diagnosed with severe sepsis or septic shock in the Intensive Care Unit (ICU) or when obtained in the emergency department or other medical wards prior to ICU admission
C4FX - Overview: C4 Complement, Functional, Serum
Diagnosis of C4 deficiency Investigation of a patient with an undetectable total complement level
GLP - Overview: Glucagon, Plasma
Diagnosis and follow-up of glucagonomas and other glucagon-producing tumors Assessing diabetic patients with problematic hyper- or hypoglycemic episodes (extremely limited utility)
NMH1D - Overview: N-Methylhistamine, 24 Hour, 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 profile Monitoring therapeutic progress in conditions...
RB24 - Overview: Retinol-Binding Protein, 24 Hour, Urine
Assessing renal tubular injury or dysfunction Screening for other tubular abnormalities Detecting chronic asymptomatic renal tubular dysfunction.(2)
DASM4 - Overview: Drugs of Abuse Screen, Meconium 4
Identifying amphetamines (and methamphetamines), opiates, as well as metabolites of cocaine and marijuana in meconium specimens
EMAIG - Overview: Endomysial Antibodies, IgG, Serum
Analysis of IgG-endomysial antibodies for the diagnosis of dermatitis herpetiformis and celiac disease Monitoring adherence to gluten-free diet in patients with dermatitis herpetiformis and celiac disease
CHAGL - Overview: Trypanosoma cruzi IgG, Lateral Flow Assay, Serum
Diagnosis of chronic Trypanosoma cruzi infection (Chagas disease)
ALDU - Overview: Aldosterone, 24 Hour, Urine
Investigating primary aldosteronism (eg, adrenal adenoma/carcinoma and adrenal cortical hyperplasia) and secondary aldosteronism (renovascular disease, salt depletion, potassium loading, cardiac failure with ascites, pregnancy, Bartter...
UHBAG - Overview: Histoplasma and Blastomyces Antigen, Enzyme Immunoassay, Urine
Diagnosing Histoplasma capsulatum or Blastomyces dermatitidis infection, without differentiation between the organisms, using random urine specimens Monitor antigen levels following initiation of antifungal treatment
INAB - Overview: Insulin Antibodies, Serum
Predicting the future development of type 1 diabetes in asymptomatic children, adolescents, and young adults, when used in conjunction with family history, human leukocyte antigen-typing, and other autoantibodies, including glutamic acid...
HIBAG - Overview: Histoplasma and Blastomyces Antigen, Enzyme Immunoassay, Serum
Diagnosing Histoplasma capsulatum or Blastomyces dermatitidis infection, without differentiation between the organisms, using serum specimens Monitor antigen levels following initiation of antifungal treatment
KIDST - Overview: Kidney Stone Analysis
Managing patients with recurrent renal calculi (kidney stones)
CMMPS - Overview: Cobalamin, Methionine, and Methylmalonic Acid Pathways, Serum
Screening and monitoring patients suspected of or confirmed with an inherited disorder of methionine, cobalamin, or propionate metabolism using serum specimens Evaluating individuals with suspected deficiency of vitamin B12
CMMPP - Overview: Cobalamin, Methionine, and Methylmalonic Acid Pathways, Plasma
Screening and monitoring patients suspected of or confirmed with an inherited disorder of methionine, cobalamin, or propionate metabolism using plasma specimens Evaluating individuals with suspected deficiency of vitamin B12
WESPR - Overview: Panel to Whole Exome Sequencing Reflex Test, Varies
Serving as a second-tier test for patients in whom previous genetic testing was negative or inconclusive Identifying causative variants in genes that were not included on panel testing which can allow for: -Better understanding of the...
Identifying individuals who are at increased risk of adverse drug reactions with drugs that are metabolized by uridine diphosphate glucuronosyltransferase (UGT1A1); especially irinotecan but also atazanavir, nilotinib, pazopanib, and...
PWAS - Overview: Prader-Willi/Angelman Syndrome, Molecular Analysis, Varies
Confirmation of diagnosis in patients suspected of having either Prader-Willi syndrome (PWS) or Angelman syndrome (AS) based on clinical assessment or previous laboratory analysis Prenatal diagnosis in families at risk for PWS or AS
HMEP - Overview: Hemiplegic Migraine With or Without Epilepsy Gene Panel, Varies
Establishing a molecular diagnosis in individuals with hemiplegic migraine Identifying disease-causing variants within genes known to be associated with hemiplegic migraine, allowing for predictive testing of at-risk family members
Comprehensive evaluation of the GATA2 gene in patients with clinical or immunological symptoms suggestive of GATA-binding protein 2 (GATA2) deficiency Screening family members of patients with confirmed GATA2 deficiency
HIVDI - Overview: HIV-1 and HIV-2 Antibody Confirmation and Differentiation, Serum
Confirmation and differentiation of HIV-1 and HIV-2 antibodies in serum specimens that show reactive results with third-(HIV-1/-2 antibody only) and 4th-generation (HIV antigen and antibody) HIV serologic assays Confirmation and...
MNDP - Overview: Inherited Motor Neuron Disease Gene Panel, Varies
Establishing a molecular diagnosis for patients with motor neuron disease Identifying variants within genes known to be associated with motor neuron disease, allowing for predictive testing of at-risk family members
Detecting a neoplastic clone associated with Philadelphia chromosome-like acute lymphoblastic leukemia (ALL), particularly when a classic abnormality is not detected with the initial panel An adjunct to conventional chromosome studies in...
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of dilated cardiomyopathy or left ventricular noncompaction Establishing a diagnosis of a hereditary form dilated cardiomyopathy...
CGAK - Overview: Chromogranin A, Serum
Aiding in monitoring disease progression during the course of disease and treatment in patients with gastroenteropancreatic neuroendocrine tumors (grade 1 and grade 2) when used in conjunction with other clinical methods This test is not...
CACMG - Overview: Comprehensive Arrhythmia and Cardiomyopathy Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of either a cardiomyopathy or cardiac arrhythmia Establishing a diagnosis of a hereditary form of either a cardiomyopathy or...
SMNDX - Overview: Spinal Muscular Atrophy Diagnostic Assay, Deletion/Duplication Analysis, Varies
First-tier newborn screening for spinal muscular atrophy (SMA) Prenatal testing for SMA Diagnostic testing to confirm a suspected diagnosis of SMA
DHCRZ - Overview: Smith Lemli Opitz Syndrome, DHCR7 Gene, Full Gene Analysis, Varies
Follow up for abnormal biochemical results suggestive of Smith-Lemli-Opitz syndrome Establishing a molecular diagnosis for patients with Smith-Lemli-Opitz syndrome Identifying alterations within DHCR7 allowing for predictive testing of...
STICK - Overview: Tick-Borne Antibodies, Modified 2-Tier, ELISA, Serum
Evaluation of the most common tick-borne diseases found in the United States, including Lyme disease, human monocytic and granulocytic ehrlichiosis, and babesiosis using the modified 2-tier testing algorithm approach Evaluation of patients...
Providing a genetic evaluation for patients with a personal or family history of steroid resistant nephrotic syndrome (SRNS) Establishing a diagnosis of hereditary SRNS Guiding treatment decisions in individuals with nephrotic syndrome
CRCL - Overview: Creatinine Clearance, Serum and 24-Hour Urine
Estimation of glomerular filtration rate
GNVWD - Overview: von Willebrand Disease, VWF and GP1BA Genes, Next-Generation Sequencing, Varies
Evaluating von Willebrand disease and platelet-type von Willebrand disease in patients with a personal or family history suggestive of von Willebrand disease Confirming von Willebrand disease or platelet-type von Willebrand disease...
CMITO - Overview: Combined Mitochondrial Full Genome and Nuclear Gene Panel, Varies
Diagnosing mitochondrial disease that results from variants in either nuclear-encoded genes or the mitochondrial genome A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial...
TALPF - Overview: T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), FISH, Pediatric, Varies
Detecting, at diagnosis, recurrent common chromosome abnormalities associated with T-cell acute lymphoblastic leukemia/lymphoma (T-ALL) in pediatric/young adult patients As an adjunct to conventional chromosome studies in pediatric/young...
GNHTC - Overview: Hereditary Thrombocytopenia Gene Panel, Next-Generation Sequencing, Varies
Evaluating hereditary thrombocytopenia disorders in patients with a personal or family history suggestive of a hereditary thrombocytopenia disorder Diagnosing hereditary thrombocytopenia disorders for patients in whom phenotypic testing is...
NF1Z - Overview: Neurofibromatosis Type 1, NF1, Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of neurofibromatosis type 1 (NF1) Establishing a diagnosis of a NF1 allowing for targeted cancer surveillance based on associated risks Identifying genetic variants...
PYRC - Overview: Pyruvate, Spinal Fluid
Investigating possible disorders of mitochondrial metabolism, when used in conjunction with cerebrospinal fluid lactate, collected at the same time, to determine the lactate-to-pyruvate (L:P) ratio Evaluating patients with neurologic...
PARVO - Overview: Parvovirus B19, Molecular Detection, PCR, Varies
Diagnosing parvovirus B19 infection
T4 - Overview: T4 (Thyroxine), Total Only, Serum
Monitoring treatment with synthetic hormones (synthetic T3 [triiodothyronine] will cause a low total T4 [thyroxine]) Monitoring treatment of hyperthyroidism with thiouracil and other anti-thyroid drugs Index of thyroid function when the...
WNVUR - Overview: West Nile Virus, RNA, PCR, Molecular Detection, Random, Urine
Rapid testing for West Nile virus (WNV) RNA (lineage 1 and lineage 2) An adjunctive test to serology for detection of early WNV infection (ie, first few days after symptom onset), with urine specimens potentially retaining WNV RNA longer...
23BPR - Overview: 2,3-Dinor 11 Beta-Prostaglandin F2 Alpha, Random, Urine
Screening for mast cell activation disorders including systemic mastocytosis using random urine specimens
VITAE - Overview: Vitamin A and Vitamin E, Serum
Diagnosing vitamin A deficiency and toxicity Evaluating persons with intestinal malabsorption of lipids Monitoring of Vitamin E supplementation/treatment
Hypersensitivity Testing and Initial Patient Management Algorithm 1. Saag M, Balu R, Phillips E, et al. High sensitivity of human leukocyte antigen-b*5701......
international-shipping-guide-french.pdf
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