MCADZ - Overview: Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency Full Gene Analysis, Varies
Confirmation of diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (as a follow-up to biochemical analyses) Screening of at-risk carriers of MCAD deficiency when an affected relative has not had molecular testing Diagnosis...
MDSMF - Overview: Myelodysplastic Syndrome (MDS), Specified FISH, Varies
Detecting a neoplastic clone associated with the common chromosome abnormalities seen in patients with myelodysplastic syndromes or other myeloid malignancies using client specified probes Evaluating specimens in which standard...
NSE - Overview: Neuron-Specific Enolase, Serum
A follow-up marker in patients with neuron-specific enolase-secreting tumors of any type An auxiliary test in the diagnosis of small cell lung carcinoma An auxiliary test in the diagnosis of carcinoids, islet cell tumors, and...
CMVPV - Overview: Cytomegalovirus (CMV) Molecular Detection, PCR, Varies
Rapid qualitative detection of cytomegalovirus (CMV) DNA This test is not intended for the monitoring of CMV disease progression.
CHRHB - Overview: Chromosome Analysis, Hematologic Disorders, Blood
Assisting in the classification and follow-up of certain malignant hematological disorders when bone marrow is not available This test is not useful for congenital disorders.
CMAPT - Overview: Chromosomal Microarray, Tumor, Formalin-Fixed Paraffin-Embedded
Genomic characterization of tumor for copy number imbalances and loss of heterozygosity Assisting in the diagnosis and classification of malignant neoplasms Evaluating the prognosis for patients with malignant tumors
EPCRB - Overview: Ehrlichia/Anaplasma, Molecular Detection, PCR, Blood
Evaluating patients suspected of acute anaplasmosis or ehrlichiosis This test should not be used for screening asymptomatic individuals.
HSVPV - Overview: Herpes Simplex Virus (HSV), Molecular Detection, PCR, Varies
Aiding in the rapid diagnosis of herpes simplex virus (HSV) infections, including qualitative detection of HSV DNA in nonblood clinical specimens This test should not be used to screen asymptomatic patients.
MDC2 - Overview: Movement Disorder, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid
Evaluating patients with suspected paraneoplastic or other autoimmune movement disorders including patients with ataxia, brainstem encephalitis, chorea, dyskinesias, myoclonus, and parkinsonism using spinal fluid specimens
MDS2 - Overview: Movement Disorder, Autoimmune/Paraneoplastic Evaluation, Serum
Evaluating patients with suspected paraneoplastic or other autoimmune movement disorders including patients with ataxia, brainstem encephalitis, chorea, dyskinesias, myoclonus, and parkinsonism using serum specimens
EURO - Overview: Phospholipase A2 Receptor, Enzyme Linked Immunosorbent Assay, Serum
Distinguishing primary from secondary membranous nephropathy
PDETS - Overview: Phosphodiesterase 10A (PDE10A) IgG, Tissue Immunofluorescence Titer, Serum
Reporting an end titer result from phosphodiesterase 10A (PDE10A) in serum specimens Evaluation of autoimmune/paraneoplastic neurological syndromes among patients presenting with movement disorders and encephalopathy
PDEIS - Overview: Phosphodiesterase 10A (PDE10A) IgG, Tissue Immunofluorescence, Serum
Detecting phosphodiesterase 10A (PDE10A)-IgG in serum specimens Evaluation of autoimmune/paraneoplastic neurological syndromes among patients presenting with movement disorders and encephalopathy
PDEIC - Overview: Phosphodiesterase 10A (PDE10A) IgG, Tissue Immunofluorescence, Spinal Fluid
Detecting phosphodiesterase 10A (PDE10A)-IgG in cerebrospinal fluid specimens Evaluation of autoimmune/paraneoplastic neurological syndromes among patients presenting with movement disorders and encephalopathy
PDETC - Overview: Phosphodiesterase 10A (PDE10A) IgG, Tissue Immunofluorescence Titer, Spinal Fluid
Reporting an end titer result from phosphodiesterase 10A (PDE10A) in spinal fluid specimens Evaluation of autoimmune/paraneoplastic neurological syndromes among patients presenting with movement disorders and encephalopathy
TLB - Overview: Thallium, Blood
Detecting toxic exposure in whole blood specimens
PGKC - Overview: Phosphoglycerate Kinase Enzyme Activity, Blood
Evaluation of individuals with Coombs-negative nonspherocytic hemolytic anemia, especially if X-linked inheritance pattern. Evaluation of individuals with myopathic or neurologic symptoms
5BETH - Overview: Factor V Bethesda Units, Plasma
Detecting and quantifying the presence and titer of a specific factor inhibitor directed against coagulation factor V
LEVE - Overview: Levetiracetam, Serum
Monitoring serum concentration of levetiracetam, particularly in patients with kidney disease Assessing compliance with levetiracetam therapy Assessing potential toxicity of levetiracetam
The differential diagnosis of patients presenting with mixed cerebellar and sensory ataxia and myeloneuropathy Reporting an end titer result from spinal fluid specimens
BHYD - Overview: Beta-Hydroxybutyrate, Serum
Monitoring therapy for diabetic ketoacidosis Investigating the differential diagnosis of any patient presenting to the emergency room with hypoglycemia, acidosis, suspected alcohol ingestion, or an unexplained increase in the anion gap...
METR1 - Overview: Cytochrome b5 Reductase Enzyme Activity, Blood
Evaluation of patients with cyanosis Confirming cases of suspected cytochrome b5 reductase (methemoglobin reductase) deficiency Functional studies in families with cytochrome b5 reductase deficiency
NCDTS - Overview: Neurochondrin Antibody, Tissue Immunofluorescence Titer, Serum
Detecting neurochondrin-IgG in serum from patients presenting with cerebellar and brainstem syndrome Reporting an end titer result from serum specimens
NAACD - Overview: N-Acetylaspartic Acid, Canavan Disease, Random, Urine
Diagnosis and monitoring of individuals with Canavan disease Follow-up quantitation of abnormal organic acid elevations of N-acetylaspartic acid
CHLE - Overview: Cholesteryl Esters, Serum
Establishing a diagnosis of lecithin-cholesterol acyltransferase deficiency Evaluating the extent of metabolic disturbance by bile stasis or liver disease
CITR2 - Overview: Citrate Concentration, Random, Urine
Diagnosing risk factors for patients with calcium kidney stones Monitoring results of therapy in patients with calcium stones or renal tubular acidosis
CCTR - Overview: Calcium/Creatinine Ratio, Random, Urine
Calculation of calcium concentration per creatinine concentration
PALB - Overview: Prealbumin, Serum
Assessing nutritional status, especially in monitoring the response to nutritional support in the acutely ill patient
SP7TC - Overview: Septin-7 Antibody, Tissue Immunofluorescence Titer, Spinal Fluid
Detecting septin-7 IgG in cerebrospinal fluid (CSF) specimens Reporting an end titer result from CSF specimens
PGK1 - Overview: Phosphoglycerate Kinase Enzyme Activity, Blood
Evaluation of individuals with Coombs-negative nonspherocytic hemolytic anemia, especially if X-linked inheritance pattern Evaluation of individuals with myopathic or neurologic symptoms
FL - Overview: Fluoride, Plasma
Assessing accidental fluoride ingestion Monitoring patients receiving sodium fluoride for bone disease or patients receiving voriconazole therapy
ALKLC - Overview: Anaplastic Lymphoma Kinase for Lung Cancer, Immunohistochemistry
Identification of anaplastic lymphoma kinase overexpression Diagnosis of inflammatory myofibroblastic tumor, anaplastic large-cell lymphoma, and for targeted therapy of lung adenocarcinoma
TTFB - Overview: Testosterone, Total, Bioavailable, and Free, Serum
Second- or third-order test for evaluating testosterone status (eg, when abnormalities of sex hormone-binding globulin are present)
Evaluating patients with a personal or family history suggestive of hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome or fumarate hydratase deficiency (FHD) Establishing a diagnosis of HLRCC or FHD allowing for targeted...
2OHGP - Overview: 2-Hydroxyglutaric Aciduria Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of 2-hydroxyglutaric aciduria Establishing a molecular diagnosis for patients with 2-hydroxyglutaric aciduria Identifying variants within genes known to be associated with...
LPMGF - Overview: Lymphocyte Proliferation to Mitogens, Blood
Assessing T-cell function in patients on immunosuppressive therapy, including solid-organ transplant patients Evaluating patients suspected of having impairment in cellular immunity Evaluation of T-cell function in patients with primary...
CDGF - Overview: Celiac Disease Gluten-Free Cascade, Serum and Whole Blood
Evaluating patients suspected of having celiac disease who are currently (or were recently) on a gluten-free diet
NHHA - Overview: Hereditary Hemolytic Anemia Gene Panel, Next-Generation Sequencing, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of hereditary hemolytic anemias, including red blood cell (RBC) membrane/hydration disorders, RBC enzymopathies, and congenital...
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inborn error of immunity (IEI) associated with immune dysregulation or autoimmunity Establishing a diagnosis of an IEI, allowing...
AMLMF - Overview: Acute Myeloid Leukemia (AML), Specified FISH, Varies
Detecting recurrent common chromosome abnormalities seen in patients with acute myeloid leukemia (AML) using a client-specified probe set An adjunct to chromosome studies in patients with AML Evaluating specimens in which chromosome...
BTKSG - Overview: Bruton Tyrosine Kinase, BTK Full Gene Analysis, Varies
Confirming a diagnosis of X-linked agammaglobulinemia in patients with a history of recurrent sinopulmonary infections, profound hypogammaglobulinemia, and less than 1% peripheral B cells, with or without abnormal Bruton tyrosine kinase...
MSUDP - Overview: Maple Syrup Urine Disease Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of maple syrup urine disease (MSUD) Establishing a molecular diagnosis for patients with MSUD Identifying variants within genes known to be associated with MSUD, allowing for...
CKDGP - Overview: Cystic Kidney Disease Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history of cystic kidney disease Establishing a diagnosis of hereditary cystic kidney disease
Follow-up testing to identify variants in individuals with a clinical diagnosis of cystic fibrosis (CF) Identifying genetic variants in individuals with atypical presentations of CF (eg, congenital bilateral absence of the vas deferens or...
PCMSP - Overview: Postmortem Inherited Congenital Myasthenia Syndrome Gene Panel, Tissue
Identifying variants within genes known to be associated with congenital myasthenic syndrome, allowing for predictive testing of at-risk family members Providing a comprehensive postmortem genetic evaluation in the setting of a congenital...
GAAZ - Overview: Pompe Disease, Full Gene Analysis, Varies
Confirmation of diagnosis of Pompe disease (as a follow-up to biochemical analyses)
PMS2 - Overview: PMS2 Immunostain, Technical Component Only
Identifying patients at high risk for having hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome, in an immunopanel including PMS2 and other mismatch repair markers Evaluation of tumor tissue to identify patients at...
TLPDF - Overview: T-Cell Lymphoma, Diagnostic FISH, Varies
Detecting, at diagnosis, common chromosome abnormalities associated with specific T-cell lymphoma subtypes using a laboratory-designated probe set algorithm
Evaluation of patients with an abnormal newborn screen showing elevations of glutarylcarnitine (C5-DC) using dried blood spot specimens Evaluation of patients with abnormal newborn screens showing elevations of C4-acylcarnitine to aid in...
PSHIV - Overview: HIV-1 RNA Patient Source, Plasma
Detection and diagnosis of HIV-1 infection in an acutely or early infected individual (including infants of <2 years of age) who is the source of blood or body fluid in an occupational exposure event
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