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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...

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...

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...

COGTF - Overview: T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Children's Oncology Group Enrollment Testing, FISH, Varies

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...

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

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...

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

SFIGS - Overview: IgG, Serum

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...

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...