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Test Catalog
OPATX - Overview: Opiates Confirmation, Chain of Custody, Random, Urine
Detection and quantification of codeine, hydrocodone, oxycodone, morphine, hydromorphone, oxymorphone, noroxycodone, noroxymorphone, norhydrocodone, dihydrocodeine, and naloxone in urine Chain of custody is required whenever the results of...
PST - Overview: Protein S Antigen, Total, Plasma
Aiding in the investigation of patients with a history of thrombosis
RPR18 - Overview: Respiratory Profile, Region 18, Alaska, Serum
Assessing sensitization to various inhalant allergens commonly found in Alaska Defining the allergen responsible for eliciting signs and symptoms Identifying allergens: -Responsible for allergic response and/or anaphylactic episode -To...
SZMON - Overview: Sezary Monitoring Flow Cytometry, Blood
Monitoring response to therapy in patients with previously diagnosed Sezary syndrome or mycosis fungoides
SP100 - Overview: SP100 Antibody, IgG, Serum
Evaluating the risk of primary biliary cholangitis in anti-mitochondrial antibody (AMA) negative patients by identification of Sp100 antibodies Estimating risk in AMA-positive patients with incomplete feature of disease
17OHP - Overview: 17-Hydroxypregnenolone, Serum
As an ancillary test for congenital adrenal hyperplasia (CAH), particularly in situations in which a diagnosis of both 21- and 11-hydroxylase deficiency have been ruled out Confirming a diagnosis of 3-beta-hydroxysteroid dehydrogenase...
POXA1 - Overview: Oxalate, Plasma
Assessing the body pool size of oxalate in patients with enzyme deficiencies, such as primary hyperoxaluria (PH), or patients with enteric hyperoxaluria Aiding in the diagnosis of PH in a patient with chronic kidney disease of...
CCFR - Overview: Cortisol/Cortisone, Free, Random, Urine
Investigating suspected Cushing syndrome (hypercortisolism), when a 24-hour collection is prohibitive (ie, pediatric patients) Assisting in diagnosing acquired or inherited abnormalities of 11-beta-hydroxy steroid dehydrogenase (cortisol...
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...
AHEP - Overview: Acute Viral Hepatitis Profile, Serum
Differential diagnosis of recent acute viral hepatitis
COMCP - Overview: Hereditary Common Cancer Panel, Varies
Evaluating hereditary cancer for patients with a personal or family history suggestive of a hereditary cancer syndrome using a panel of 36 genes Establishing a diagnosis of a hereditary cancer syndrome allowing for targeted cancer...
HPGLP - Overview: Hereditary Paraganglioma/Pheochromocytoma Panel, Varies
Evaluating patients with a personal or family history suggestive of a hereditary paraganglioma and pheochromocytoma (PGL/PCC) syndrome Establishing a diagnosis of a hereditary PGL/PCC, allowing for targeted surveillance based on...
GSDGP - Overview: Glycogen Storage Disease Gene Panel, Varies
Follow up of abnormal biochemical results consistent with glycogen storage disease (GSD) Establishing a molecular diagnosis for patients with GSD Identifying variants within genes known to be associated with GSD allowing for predictive...
PDGP - Overview: Peroxisomal Disorder Gene Panel, Varies
Follow up of abnormal biochemical result, usually very long-chain fatty acid test consistent with peroxisomal disorder Establishing a molecular diagnosis for patients with peroxisomal disorders Identifying variants within genes known to...
Evaluation of pediatric bone marrow and peripheral blood specimens by fluorescence in situ hybridization probe analysis for classic rearrangements and chromosomal copy number changes associated with T-cell acute lymphoblastic leukemia in...
UGTFZ - Overview: UDP-Glucuronosyltransferase 1A1 (UGT1A1), Full Gene Sequencing, Varies
Establishing a diagnosis of Crigler-Najjar syndrome type I or type II and the trait of Gilbert syndrome Establishing carrier status for Crigler-Najjar syndrome type I or type II Identifying individuals who are at risk of...
AVWPR - Overview: von Willebrand Disease Profile, Plasma
Detection of deficiency or abnormality of von Willebrand factor (VWF) and related deficiency of factor VIII coagulant activity Subtyping von Willebrand disease (VWD) as type 1 (most common), type 2 variants (less common), or type 3...
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...
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...
AMISO - Overview: Amylase, Isoenzymes, Serum
Ruling out salivary amylase as the cause of elevated serum amylase
FUCW - Overview: Alpha-Fucosidase, Leukocytes
Detection of fucosidosis This test is not useful for establishing carrier status for fucosidosis.
DRPL - Overview: Dentatorubral-Pallidoluysian Atrophy (DRPLA) Gene Analysis, Varies
Confirming the diagnosis of dentatorubral-pallidoluysian atrophy (DRPLA) for symptomatic patients Predictive testing for individuals with a family history of DRPLA and a documented expansion in the ATN1 gene in an affected family member
Evaluation of Rac2 deficiency and RAC2 gain of function
CUT - Overview: Copper, Liver Tissue
Diagnosing Wilson disease and primary biliary cirrhosis using liver tissue specimens
BIVAL - Overview: Bivalirudin, Ecarin, Plasma
Monitoring of bivalirudin therapy for patients with prolonged baseline activated partial thromboplastin time
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...
C5AG - Overview: C5 Complement, Antigen, Serum
Diagnosis of C5 deficiency Investigation of a patient with an absent total complement (CH50) level
C9FX - Overview: C9 Complement, Functional, Serum
Diagnosis of C9 deficiency Investigation of a patient with a low total (hemolytic) complement level
CHLBF - Overview: Cholesterol, Body Fluid
Aiding in the diagnosis of a cholesterol effusion or cholesterol-rich pseudochylous effusion in body fluids Distinguishing between chylous and pseudochylous pleural effusions Distinguishing between malignant and nonmalignant ascites
CACR3 - Overview: Calcium/Creatinine Ratio, Random, Urine
Evaluation of calcium oxalate and calcium phosphate kidney stone risk Calculation of urinary supersaturation Evaluation of bone diseases, including osteoporosis and osteomalacia
HERDN - Overview: HER2, Breast, DCIS, Quantitative Immunohistochemistry, Manual No Reflex
Determining overexpression of HER2 protein on formalin-fixed, paraffin-embedded tissue sections in ductal carcinoma in situ or solid/intracystic papillary carcinoma breast tissue This FDA-approved test is most frequently used to evaluate...
HISME - Overview: Histone H3 Trimethyl K27 Immunostain, Technical Component Only
Diagnosis of malignant peripheral nerve sheath tumors and diffuse midline gliomas H3 K27M-mutant
KIDST - Overview: Kidney Stone Analysis
Managing patients with recurrent renal calculi (kidney stones)
BFLA1 - Overview: Lipid Analysis, Body Fluid
Distinguishing between chylous and nonchylous effusions
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
IA2 - Overview: Islet Antigen 2 (IA-2) Antibody, Serum
Clinical distinction of type 1 from type 2 diabetes mellitus Identification of individuals at risk of type 1 diabetes (including high-risk relatives of patients with diabetes) Prediction of future need for insulin treatment in...
PBUCR - Overview: Lead/Creatinine Ratio, Random, Urine
Detecting clinically significant lead exposure, a toxic heavy metal, using random urine specimens
MTDNU - Overview: Methadone Confirmation, Random, Urine
Monitoring for compliance of methadone treatment for analgesia or drug rehabilitation Assessing compliance with rehabilitation programs by urine measurement of 2-ethylidene-1,5-dimethyl-3,3-diphenylpyrrolidine
Aiding in the diagnosis of multiple sclerosis and other central nervous system inflammatory conditions as a part of a profile
NEREG - Overview: Northeast Regional Allergen Profile, Serum
Establishing a diagnosis of an allergy to northeast regional allergen profile Defining the allergen responsible for eliciting signs and symptoms Identifying allergens: -Responsible for allergic response and/or anaphylactic episode -To...
MPPG - Overview: Mumps Virus Antibody, IgG, Serum
Determination of postimmunization immune response of individuals to the mumps vaccine Documentation of previous infection with mumps virus in an individual with no previous record of immunization to mumps virus
MRDMR - Overview: Multiple Myeloma Minimal Residual Disease by Flow Cytometry, Bone Marrow
Detecting low level (minimal residual disease) myeloma cells after therapy to confirm remission has been achieved
OSG_F - Overview: Osmotic Gap, Feces
Workup of cases of chronic diarrhea Differentiating osmotic from non-osmotic causes of chronic diarrhea.
QFEVR - Overview: Q Fever Antibody Screen with Titer Reflex, Serum
Screening for exposure to Coxiella burnetii, the causative agent of Q fever This test should not be used as a screening procedure for the general population.
OROT - Overview: Orotic Acid, Random, Urine
Evaluation of the differential diagnosis of hyperammonemia and hereditary orotic aciduria Sensitive indicator of ornithine transcarbamylase (OTC) activity after administration of allopurinol or a protein load to identify OTC carriers
PK1 - Overview: Pyruvate Kinase Enzyme Activity, Blood
Evaluation of nonspherocytic hemolytic anemia Evaluation of neonatal anemia or jaundice Evaluation of unexplained noninfectious hepatic failure Evaluation of unexplained iron overload Evaluation of unusually severe hemoglobin S...
PCPMX - Overview: Phencyclidine (PCP) Confirmation, Chain of Custody, Meconium
Detection of in utero drug exposure up to 5 months before birth Chain of custody is required whenever the results of testing could be used in a court of law. Its purpose is to protect the rights of the individual contributing the specimen...
PCAG - Overview: Protein C Antigen, Plasma
Differentiating congenital type I protein C deficiency from type II deficiency Evaluating the significance of decreased functional protein C, especially when decreased protein C activity might be congenital rather than acquired (eg, due...
PTHRP - Overview: Parathyroid Hormone-Related Peptide, Plasma
Aiding in the evaluation of individuals with hypercalcemia of unknown origin Aiding in the evaluation of individuals with suspected humoral hypercalcemia of malignancy The test should not be used to exclude cancer or screen individuals...
SSA - Overview: SS-A/Ro Antibodies, IgG, Serum
Evaluating patients at-risk for connective tissue disease with or without interstitial lung disease Detection of both anti-SS-A 52 (Ro52) and SS-A 60 (Ro60) antibodies in serum
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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...
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...