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Test Catalog
FACTV - Overview: Coagulation Factor V Activity Assay, Plasma
Diagnosing congenital deficiencies (rare) of coagulation factor V Evaluating acquired deficiencies associated with liver disease, factor V inhibitors, myeloproliferative disorders, and intravascular coagulation and fibrinolysis...
BAP - Overview: Bone Alkaline Phosphatase, Serum
Diagnosis and assessment of severity of metabolic bone disease including Paget disease, osteomalacia, and other states of high bone turnover Monitoring efficacy of antiresorptive therapies including postmenopausal osteoporosis treatment...
LGBBS - Overview: Globotriaosylsphingosine, Blood Spot
Screening of patients with Fabry disease using dried blood spots when a serum specimen is not available This test should not be used for newborn screening followup.
MTBS - Overview: Microsporidia Stain, Varies
Diagnosis of extra-intestinal microsporidiosis involving the lung, skin, and other organs, particularly in immunocompromised hosts Diagnosis of ocular microsporidiosis
FRAG - Overview: Osmotic Fragility, Erythrocytes
Evaluating suspected hereditary spherocytosis-associated hemolytic anemia Confirming or detecting mild spherocytosis
PSGN - Overview: Plasminogen Activity, Plasma
Evaluating patients with ligneous conjunctivitis (strong association with homozygous plasminogen deficiency) Evaluating fibrinolysis, in combination with other components of the fibrinolytic system (fibrinogen, tissue...
SCERA - Overview: Saccharomyces cerevisiae Antibody, IgA, Serum
Measuring IgA anti-Saccharomyces cerevisiae antibodies as a part of a profile to aid in distinguishing between ulcerative colitis and Crohn disease in patients for whom the specific diagnosis is unclear based on endoscopic, pathologic, and...
SGSS - Overview: Synthetic Glucocorticoid Screen, Serum
Confirming the presence of listed synthetic glucocorticoids (see Interpretation) Confirming the cause of secondary adrenal insufficiency This test is not useful for detection of fluticasone propionate.
SGSU - Overview: Synthetic Glucocorticoid Screen, Random, Urine
Confirming the presence of the listed synthetic glucocorticoids Confirming the cause of secondary adrenal insufficiency
TIUCR - Overview: Titanium/Creatinine Ratio, Random, Urine
Monitoring exposure and elimination of titanium
VMAR - Overview: Vanillylmandelic Acid, Random, Urine
Screening children for catecholamine-secreting tumors using a random urine collection when requesting vanillylmandelic acid only Supporting a diagnosis of neuroblastoma Monitoring patients with a treated neuroblastoma
APHTS - Overview: Amphiphysin Antibody Titer Assay, Serum
Evaluating patients with recent onset of a subacute neurological disorder for which a paraneoplastic basis might be suspected, particularly if the patient has a previous history, risk factors, or family history of cancer, especially lung or...
6MAMM - Overview: 6-Monoacetylmorphine (6-MAM), Confirmation, Meconium
Detection of in utero heroin exposure up to 5 months before birth
SPSM - Overview: Morphology Evaluation (Special Smear), Blood
Detecting disease states or syndromes of the white blood cells, red blood cells, or platelet cell lines of a patient's peripheral blood
OXU - Overview: Oxalate, 24 Hour, Urine
Monitoring therapy for kidney stones using 24-hour urine collections Identifying increased urinary oxalate as a risk factor for stone formation Diagnosis of primary or secondary hyperoxaluria
UIOD - Overview: Iodine, 24 Hour, Urine
Assessing iodine toxicity or recent exposure in a 24-hour urine collection Monitoring iodine excretion rate as index of replacement therapy
PCTTC - Overview: Purkinje Cell Cytoplasmic Antibody, Type Tr (PCA-Tr) Titer, Spinal Fluid
Serological testing for Purkinje cell cytoplasmic antibody-Tr for patients with acquired cerebellar ataxia of undetermined etiology, particularly if the patient has a history of Hodgkin lymphoma Reporting an end titer result from spinal...
DMS2 - Overview: Dementia, Autoimmune/Paraneoplastic Evaluation, Serum
Investigating new onset dementia and cognitive impairment plus 1 or more of the following using serum specimens: -Rapid onset and progression -Fluctuating course -Psychiatric accompaniments (psychosis, hallucinations) -Movement disorder...
BRCMG - Overview: Brucella Antibody Screen, IgM and IgG, ELISA, Serum
Evaluating patients with suspected brucellosis
BNZX - Overview: Benzodiazepines Confirmation, Chain of Custody, Random, Urine
Detecting drug use involving benzodiazepines such as alprazolam, chlordiazepoxide, clonazepam, diazepam, midazolam, oxazepam, temazepam, clobazam, flunitrazepam, flurazepam, lorazepam, prazepam, triazolam, and zolpidem, in urine specimens...
DENGM - Overview: Dengue Virus Antibody, IgG and IgM, Serum
Aiding in the diagnosis of dengue virus infection
Detecting Chlamydia trachomatis and Neisseria gonorrhoeae using rectal swabs collected by the patient in a healthcare setting This test is not intended for use in medico-legal applications. This test is not useful for the detection of...
Detecting Chlamydia trachomatis and Neisseria gonorrhoeae using a throat swab collected by the patient in a healthcare setting This test is not intended for use in medico-legal applications. This test is not useful for the detection of...
FGFR2 - Overview: FGFR2 (10q26.1) Rearrangement, FISH, Tissue
Providing prognostic information and guiding treatment for patients with cholangiocarcinomas and other tumor types including bladder, thyroid, oral cavity, and brain
CHIKV - Overview: Chikungunya IgM and IgG, Antibody, Serum
Aiding in the diagnosis of recent infection with Chikungunya virus in patients with recent travel to endemic areas and a compatible clinical syndrome
8INHE - Overview: Factor VIII Inhibitor Evaluation, Plasma
Detecting the presence and titer of a specific factor inhibitor directed against coagulation factor VIII This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a nonspecific circulating...
GLIC - Overview: CD8 T-Cell Immune Competence, Global, Blood
Determining overimmunosuppression within the CD8 T-cell compartment, when used on transplant recipients and patients with autoimmune disorders receiving therapy with immunosuppressant agents
CMA - Overview: Centromere Antibodies, IgG, Serum
Evaluating patients with features of systemic autoimmune rheumatic disease, particularly systemic sclerosis, Sjogren's syndrome, or overlap disease Aiding in the phenotypic stratification of patients with systemic sclerosis (limited...
Preferred diagnostic test for the detection of Bordetella pertussis or Bordetella parapertussis This test is not recommended for screening asymptomatic individuals who may carry B pertussis or parapertussis. This test is not recommended...
MCRNA - Overview: Chlamydia trachomatis, Miscellaneous Sites, Nucleic Acid Amplification, Varies
Detecting Chlamydia trachomatis in non-US Food and Drug Administration-approved specimen types This test is not intended for use in medico-legal applications. This test is not useful for the detection of Chlamydia pneumoniae or other...
EBVPV - Overview: Epstein-Barr Virus (EBV), Molecular Detection, PCR, Varies
Rapid qualitative detection of Epstein-Barr virus (EBV) DNA in specimens Diagnosis of disease due to EBV This test should not be used to screen asymptomatic patients.
ALGAL - Overview: Galactose-Alpha-1,3-Galactose (Alpha-Gal), IgE, Serum
As an aid in diagnosis of an IgE mediated hypersensitivity allergy to non-primate mammalian red meat, such as beef, pork, venison, and meat-derived products (eg, gelatin) This test is not useful in patients previously treated with...
MMPP - Overview: Mitochondrial Metabolites, Plasma
Monitoring patients with mitochondrial disorders, organic acidurias, and ketone body disorders
NADF - Overview: Newborn Aneuploidy Detection, FISH, Blood
Screening for chromosomal aneuploidies of chromosomes 13, 18, 21, X, and Y in newborn peripheral blood specimens
RPR19 - Overview: Respiratory Profile, Region 19, Puerto Rico, Serum
Assessing sensitization to various inhalant allergens commonly found in Puerto Rico Defining the allergen responsible for eliciting signs and symptoms Identifying allergens: -Responsible for allergic response and/or anaphylactic...
BHDZ - Overview: Birt-Hogg-Dube Syndrome, FLCN, Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of Birt-Hogg-Dube (BHD) syndrome Establishing a diagnosis of BHD syndrome allowing for targeted cancer surveillance based on associated risks Identifying variants within...
BAP1Z - Overview: BAP1-Tumor Predisposition Syndrome, BAP1 Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of BAP1-tumor predisposition syndrome (BAP1-TPDS) Establishing a diagnosis of BAP1-TPDS allowing for targeted cancer surveillance based on associated risks Identifying...
CRMP1 - Overview: Cardiovascular Risk Marker Panel, Serum
Assessment for risk of developing cardiovascular disease, major adverse cardiovascular events, or ischemic cerebrovascular events
DGLDN - Overview: Gliadin (Deamidated) Antibodies Evaluation, IgG and IgA, Serum
Assessment of deaminated gliadin IgA and IgG antibodies for evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased risk...
DAGL - Overview: Gliadin (Deamidated) Antibody, IgA, Serum
Assessment of deaminated gliadin IgA antibodies for evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased risk (family...
GBAZ - Overview: Gaucher Disease, Full Gene Analysis, Varies
Confirmation of a diagnosis of Gaucher disease Carrier screening in cases where there is a family history of Gaucher disease, but an affected individual is not available for testing or disease-causing alterations have not been identified
KRABZ - Overview: Krabbe Disease, Full Gene Analysis and Large (30 kb) Deletion, Varies
Second-tier test for confirming a diagnosis of Krabbe disease Carrier testing for individuals with a family history of Krabbe disease in the absence of known sequence variants in the family
NAGS - Overview: Hexosaminidase A and Total Hexosaminidase, Serum
Carrier detection and diagnosis of Tay-Sachs disease and Sandhoff disease Ruling out I-cell disease This test is not useful for pregnant females or those treated with hormonal contraception.
CDHZ - Overview: Hereditary Diffuse Gastric Cancer Syndrome, CDH1, Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of hereditary diffuse gastric cancer (HDGC) syndrome Establishing a diagnosis of HDGC syndrome allowing for targeted cancer surveillance based on associated risks...
MSP3 - Overview: Multiple Sclerosis (MS) Cascade, Serum and Spinal Fluid
Diagnosing multiple sclerosis, especially helpful in patients with equivocal clinical or radiological findings
QFT4 - Overview: QuantiFERON-TB Gold Plus, Blood
Indirect test for Mycobacterium tuberculosis infection, to be used in conjunction with risk assessment, radiography, and other medical and diagnostic evaluations This test is not recommended for use for diagnosis of active tuberculosis...
C2NAD - Overview: PrecivityAD, Plasma
Assisting in the evaluation of adult patients, aged 55 years and older, with signs or symptoms of mild cognitive impairment or dementia who are being assessed for Alzheimer disease and other causes of cognitive decline This is not intended...
PTNZ - Overview: PTEN Hamartoma Tumor Syndrome, PTEN Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of PTEN hamartoma tumor syndrome (PHTS) Establishing a diagnosis of PHTS allowing for targeted cancer surveillance based on associated risks Identifying variants within...
TTGG - Overview: Tissue Transglutaminase Antibody, IgG, Serum
Individuals with IgA deficiency Evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased risk (family history, previous...
SEP9Z - Overview: SEPTIN9 Gene, Full Gene Analysis, Varies
Establishing a molecular diagnosis for patients with hereditary neuralgic amyotrophy Identifying variants within SEPTIN9 known to be associated with hereditary neuralgic amyotrophy, allowing for predictive testing of at-risk family members
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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...