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Test Catalog

MCFRC - Overview: MayoComplete Renal Cell Carcinoma with Fibromyomatous Stroma Panel, Next-Generation Sequencing, Tumor

Identifying specific mutations within the ELOC (TCEB1), TSC1, TSC2, and VHL genes to assist in tumor diagnosis/classification Assisting in the clinical management of patients with renal cell carcinoma

MLH1 - Overview: MLH1 Immunostain, Technical Component Only

Evaluation of tumor tissue to identify patients at high risk for having hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome Evaluation of tumor tissue to identify patients at risk for having hereditary endometrial...

HTG2 - Overview: Thyroglobulin, Tumor Marker, Serum

Follow-up of patients with differentiated thyroid cancers after thyroidectomy and radioactive iodine ablation

PBC2 - Overview: SP100 and GP210 Antibodies, IgG, Serum

Evaluating the risk of primary biliary cholangitis in anti-mitochondrial antibody (AMA)-negative patients by identification of Sp100 and gp210 antibodies Estimating risk in AMA-positive patients with incomplete feature of disease

VWACT - Overview: von Willebrand Factor Activity, Plasma

Diagnosis of von Willebrand disease (VWD) and differentiation of VWD subtypes or differentiation of VWD from hemophilia A Monitoring therapeutic efficacy of treatment with DDAVP (desmopressin) or VWF concentrates in patients with VWD

BPGMM - Overview: 2,3-Bisphosphoglycerate Mutase, Full Gene Sequencing Analysis, Varies

Diagnosing 2,3-bisphosphoglycerate mutase deficiency in individuals with lifelong, unexplained erythrocytosis Identifying genetic variant carriers in family members of an affected individual for the purposes of preconception genetic...

BLWX - Overview: Walnut-Food Components, IgE, Serum

Evaluation of patients with suspected walnut-food allergy to one of 2 walnut-food components

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...

MCMRU - Overview: Mast Cell Mediators, Random, Urine

Evaluating patients at risk for mast cell activation syndrome (eg, systemic mastocytosis) using random urine collections

CZPS - Overview: Clonazepam and 7-Aminoclonazepam, Serum

Assessing patient compliance Monitoring for appropriate therapeutic level Assessing clonazepam toxicity

RAT10 - Overview: Citrate/Creatinine Ratio, Urine

Calculating the citrate concentration per creatinine Diagnosing risk factors for patients with calcium kidney stones Monitoring results of therapy in patients with calcium stones or renal tubular acidosis

LASF1 - Overview: Lactic Acid, Spinal Fluid

Aid in differentiating between bacterial and viral meningitis Aid in identifying increased anaerobic glycolysis or hypoxia associated with bacterial meningitis, cerebral infarction, cerebral arteriosclerosis, intracranial hemorrhage,...

JCV - Overview: JC Virus Detection by In Situ Hybridization

Confirming a clinical and histopathologic diagnosis of progressive multifocal leukoencephalopathy

PHU_ - Overview: pH, Random, Urine

Assessment of patients with metabolic acidosis Assessment of crystalluria Monitoring the effectiveness of alkalinization or acidification of urine for certain medical conditions (eg, treatment of uric acid nephrolithiasis)

SVISC - Overview: Viscosity, Serum

Detection of increased viscosity Monitoring patients with hyperviscosity syndrome This test is not useful for patients with small concentrations of monoclonal proteins.

ENC2 - Overview: Encephalopathy, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid

Evaluating new onset encephalopathy (noninfectious or metabolic) comprising confusional states, psychosis, delirium, memory loss, hallucinations, movement disorders, sensory or motor complaints, seizures, dyssomnias, ataxias, nausea,...

DMC2 - Overview: Dementia, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid

Investigating new onset dementia and cognitive impairment plus 1 or more of the following accompaniments using cerebrospinal fluid specimens: -Rapid onset and progression -Fluctuating course -Psychiatric accompaniments (psychosis,...

WESMT - Overview: Whole Exome and Mitochondrial Genome Sequencing, Varies

Serving as a first-tier test to identify a molecular and/or mitochondrial diagnosis in patients with suspected genetic disorders, which can allow for: -Better understanding of the natural history/prognosis -Targeted management (anticipatory...

GNPLT - Overview: Platelet Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies

Evaluating hereditary platelet disorders in patients with a personal or family history suggestive of a hereditary platelet disorder Diagnosing hereditary platelet disorders for patients in whom phenotypic testing is nondiagnostic, but...

AIAES - Overview: Axonal Neuropathy, Autoimmune/Paraneoplastic Evaluation, Serum

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 that appear...

AHLP - Overview: AudioloGene Hearing Loss Panel, Varies

Establishing a diagnosis of a syndromic or nonsyndromic hereditary hearing loss disorder Identifying variants within genes known to be associated with hereditary hearing loss, allowing for predictive testing of at-risk family members

ESTF - Overview: Estrogens, Estrone (E1) and Estradiol (E2), Fractionated, Serum

Simultaneous high-sensitivity determination of serum estrone and estradiol levels Situations requiring either higher sensitivity estradiol measurement, estrone measurement, or both, including -As part of the diagnosis and workup of...

CDCOM - Overview: Celiac Disease Comprehensive Cascade, Serum and Whole Blood

Evaluating patients suspected of having celiac disease, including patients with compatible symptoms, patients with atypical symptoms, and individuals at increased risk (family history, previous diagnosis with associated...

NMITO - Overview: Nuclear Mitochondrial Gene Panel, Next-Generation Sequencing, Varies

Diagnosing the subset of mitochondrial disease that results from variants in the nuclear-encoded genes A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial disease-related genes were...

HFAOP - Overview: Fatty Acid Oxidation Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of a fatty acid oxidation disorder Establishing a molecular diagnosis for patients with a fatty acid oxidation disorder Identifying variants within genes known to be associated with a...

2D6Q - Overview: Cytochrome P450 2D6 Comprehensive Cascade, Varies

Providing information relevant to tamoxifen, codeine, and tramadol, as well as other medications metabolized by cytochrome P450 2D6 Determining the exact genotype when other methods fail to generate this information or if...

HMU24 - Overview: Heavy Metals Screen, with Reflex, 24 Hour, Urine

Detecting arsenic, cadmium, mercury, and lead exposure and toxicity using 24-hour urine specimens

INFXP - Overview: Infliximab Quantitation with Antibodies to Infliximab, Serum

Trough level quantitation for evaluation of patients undergoing therapy with infliximab for proactive or reactive therapeutic drug monitoring.

INTAD - Overview: Adalimumab Panel, Interpretation

Interpretation of therapeutic drug monitoring of adalimumab concentration and antibody levels

AGABS - Overview: Alpha-Galactosidase, Blood Spot

Diagnosis of Fabry disease in male patients using blood spot specimens Verifying abnormal serum alpha-galactosidase results in male patients with a clinical presentation suggestive of Fabry disease Follow-up to an abnormal newborn screen...

DMDZ - Overview: DMD Gene, Full Gene Analysis, Varies

Establishing a molecular diagnosis for patients with Duchenne muscular dystrophy and Becker muscular dystrophy Identifying variants within DMD known to be associated with Duchenne muscular dystrophy or Becker muscular dystrophy, allowing...

CHIDB - Overview: Chimerism-Donor, Varies

Evaluating the donor cells prior to bone marrow transplant Determining the relative amounts of donor and recipient cells in a specimen An indicator of bone marrow transplant success

CORTC - Overview: Corticosterone, Serum

Diagnosis of suspected 11-hydroxylase deficiency, including the differential diagnosis of 11-beta-hydroxylase 1 (CYP11B1) versus 11-beta-hydroxylase 2 (CYP11B2) deficiency, and the diagnosis of glucocorticoid-responsive hyperaldosteronism...

SMCP - Overview: Inherited Skeletal Muscle Channelopathy Gene Panel, Varies

Establishing a molecular diagnosis for patients with a skeletal muscle channelopathy Identifying variants within genes known to be associated with a skeletal muscle channelopathy allowing for predictive testing of at-risk family members

WILMP - Overview: Hereditary Wilms Tumor Panel, Varies

Evaluating isolated and syndromic causes of Wilms tumor Establishing a diagnosis to guide management for individuals with Wilms tumor Identifying a familial variant allowing for predictive testing and appropriate screening of at-risk...

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

MCLBP - Overview: MayoComplete Liquid Biopsy Panel, Next-Generation Sequencing, Cell-Free DNA

As an alternative to invasive tissue biopsies to assist in tumor profiling for diagnosis, predicting prognosis, and identifying targeted therapies for the treatment and management of patients with solid tumors As an alternative to invasive...

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

PKLRZ - Overview: PKLR Full Gene Analysis, Varies

Aiding in the diagnosis of pyruvate kinase (PK) deficiency Ascertaining a causative variant in the PKLR gene of patients with low or relatively low levels of erythrocytic PK enzymatic activity Ascertaining carrier status of family members...

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...

PGDBS - Overview: Plasmalogens, Blood Spot

Diagnosing patients with possible peroxisomal disorders, such as peroxisomal biogenesis disorders (Zellweger syndrome spectrum) and rhizomelic chondrodysplasia punctata (RCDP), including fatty acyl-CoA reductase 1 (FAR1)...

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MCL - Trace Metals Analysis Specimen Collection and Transport - MC1235-233

MC1235-233rev0720Page 1 of 4©2020 Mayo Foundation for Medical Education and Research Trace Metals Analysis Specimen Collection and Transport Introduction Trace metals exist in our environment at concentrations...

MC4091-67CH.indd

T800 MC4091-67CH MC4091-67CH.indd 1-2 11/14/2017 9:23:30 AM MC4091-67CH.indd 3-4 11/14/2017 9:23:30 AM...

lysosomal_storage_disorders_diagnostic_algorithm__part_1.pdf

Order: FUCW / Alpha-Fucosidase, Leukocytes Order 1 of the following: MPS4W / Mucopolysaccharidosis IV Enzyme Panel, Leukocytes ......

lysosomal-disorders-diagnostic-algorithm-part1.pdf

Order: FUCW / Alpha-Fucosidase, Leukocytes Order 1 of the following: ■ MPS4W / Mucopolysaccharidosis IV Enzyme Panel, Leukoc......

inherited_motor_neuron_disease_testing_algorithm.pdf

Research (MFMER). All rights reserved. 12/2022 Spinal muscular atrophy (SMA) phenotype -SMA types 1-4 Order SMNDX / Spinal Muscular Atrophy Diagnostic Assay by Deletion/ Duplication Analysis Spinal bulbar...