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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

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...

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...

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...

SCCGR - Overview: Chlamydia trachomatis and Neisseria gonorrhoeae, Self-Collect, Amplified RNA, Rectal

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...

SCCGT - Overview: Chlamydia trachomatis and Neisseria gonorrhoeae, Self-Collect, Amplified RNA, Throat

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...

BPRPV - Overview: Bordetella pertussis and Bordetella parapertussis, Molecular Detection, PCR, Varies

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...

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...