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Test Catalog
VZIKU - Overview: Zika Virus, PCR, Molecular Detection, Random, Urine
Qualitative detection of Zika virus RNA in paired urine and serum from individuals meeting the Centers of Disease Control and Prevention Zika virus clinical or epidemiologic criteria
KRASP - Overview: KRAS Somatic Mutation Analysis, Tumor
Detecting molecular markers associated with response or resistance to specific cancer therapies
BNZU - Overview: Benzodiazepines Confirmation, Random, Urine
Detecting drug use involving benzodiazepines such as alprazolam, chlordiazepoxide, clonazepam, diazepam, midazolam, oxazepam, temazepam, clobazam, flunitrazepam, flurazepam, lorazepam, prazepam, triazolam, and zolpidem
CSTB - Overview: CSTB Gene, Repeat Expansion Analysis, Varies
Molecular confirmation of clinically suspected CSTB-related progressive myoclonic epilepsy Identifying full penetrance dodecamer repeat expansions within CSTB known to cause CSTB-related progressive myoclonic epilepsy, allowing for...
MATCC - Overview: Maternal Cell Contamination, Molecular Analysis, Varies
Ruling out the presence of maternal cell contamination within a fetal specimen Required for all prenatal testing performed in Mayo Clinic Laboratories' Molecular and Biochemical Genetics laboratories
NSRGG - Overview: Noonan Syndrome and Related Conditions Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Noonan syndrome, Noonan syndrome with multiple lentigines, Noonan syndrome with loose anagen hair, cardiofaciocutaneous syndrome, Costello syndrome,...
WGSR - Overview: Whole Genome Sequencing Reanalysis, Varies
Identifying a diagnosis or additional variants associated with the phenotype in patients who previously have had a negative or inconclusive whole genome sequencing test Reanalyzing whole genome sequencing data when a patient (proband)...
Monitoring response to therapy in patients with known e1/a2 BCR/ABL1 (p190) fusion forms
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...
BNP - Overview: B-Type Natriuretic Peptide, Plasma
Aiding in the diagnosis of congestive heart failure (CHF) The role of B-type natriuretic peptide in monitoring CHF therapy is under investigation.
HEVQU - Overview: Hepatitis E Virus RNA Detection and Quantification, Real-Time RT-PCR, Serum
Virologic detection and confirmation of hepatitis E virus (HEV) infection in individuals who are immunocompromised and are at risk for or suspected to have acute or chronic hepatitis E Monitoring HEV RNA levels and determining eradication...
I2SB - Overview: Iduronate-2-Sulfatase, Blood Spot
Supporting the biochemical diagnosis of mucopolysaccharidosis II (MPS II; Hunter syndrome) This test is not useful for determining carrier status for MPS II.
CTBID - Overview: Culture Referred for Identification, Mycobacterium and Nocardia, Varies
Rapid identification to the species level for Mycobacterium species, Nocardia species, and other aerobic actinomycete genera and species from pure culture isolates
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
Evaluating for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and related demyelinating peripheral neuropathies
Assessing pure isolates of Helicobacter pylori to predict clarithromycin resistance or susceptibility
NPM1Q - Overview: Nucleophosmin (NPM1) Mutation Analysis, Varies
As a prognostic indicator in patients with newly diagnosed acute myelogenous leukemia with normal karyotype and no FLT3 variant and as a leukemia-specific marker of minimal residual disease
PSYR - Overview: Psychosine, Whole Blood
Aiding in the biochemical diagnosis of Krabbe disease using whole blood specimens Follow-up of individuals affected with Krabbe disease Follow-up testing after an abnormal newborn screening result for Krabbe disease Monitoring of...
ML1HM - Overview: MLH1 Hypermethylation Analysis, Tumor
An adjunct to TMSI / Microsatellite Instability, Tumor and IHC / Mismatch Repair (MMR) Protein Immunohistochemistry Only, Tumor when colon or endometrial tumor demonstrates microsatellite instability (MSI-H) and loss of MLH1 protein...
MHRP - Overview: Metamycoplasma hominis, Molecular Detection, PCR, Varies
Rapid, sensitive, and specific identification of Metamycoplasma hominis from synovial fluid, genitourinary, reproductive, lower respiratory sources, pleural/chest fluid, pericardial fluid, and wound specimens This test is not intended for...
NSAI - Overview: Neurosyphilis IgG, Antibody Index, Spinal Fluid
Aid in the diagnosis of neuroinvasive syphilis as part of a profile
PMMIL - Overview: Phosphomannomutase and Phosphomannose Isomerase, Leukocytes
Diagnosing congenital disorders of glycosylation Ia (phosphomannomutase-2 deficiency: PMM2-CDG) and Ib (phosphomannose isomerase deficiency: MPI-CDG) as measured in leukocytes Follow-up testing for patients with an abnormal type I CDG...
SZMON - Overview: Sezary Monitoring Flow Cytometry, Blood
Monitoring response to therapy in patients with previously diagnosed Sezary syndrome or mycosis fungoides
CALR - Overview: CALR Mutation Analysis, Myeloproliferative Neoplasm (MPN), Varies
Rapid and sensitive detection of insertion and deletion-type mutations in exon 9 of CALR Aiding in distinguishing between reactive thrombocytosis and leukocytosis versus a myeloproliferative neoplasm (MPN), especially essential...
ADNA1 - Overview: Double-Stranded DNA (dsDNA) Antibodies, IgG, Serum
Evaluating patients with clinical features or at-risk for systemic lupus erythematosus (SLE) Monitoring disease activity, as an adjunct test, in patients with SLE previously positive for double-stranded DNA IgG antibodies
ETV6F - Overview: ETV6 (12p13.2) Rearrangement, FISH, Tissue
Detection of ETV6 rearrangements irrespective of the ETV6 fusion partner gene Supporting the diagnosis of many neoplasms including, but not limited to, mammary analogue secretory carcinoma, secretory carcinoma of the breast, and infantile...
Producing cell cultures that can be used for enzymatic or molecular genetic analysis
FAO - Overview: Fatty Acid Oxidation Probe Assay, Fibroblast Culture
In vitro confirmation of biochemical diagnoses of the following fatty acid oxidation disorders: -Short-chain acyl-CoA dehydrogenase deficiency -Medium-chain acyl-CoA dehydrogenase deficiency -Long-chain 3-hydroxyacyl-CoA dehydrogenase...
FGEN - Overview: Fungal Culture, Routine
Diagnosing fungal infections from specimens other than blood, skin, hair, nails, and vagina (separate tests are available for these specimen sites)
GALCW - Overview: Galactocerebrosidase, Leukocytes
Diagnosis of Krabbe disease Follow-up testing for evaluation of an abnormal newborn screening result for Krabbe disease This test is not intended for carrier detection.
KITQ - Overview: KIT p.Asp816Val Variant Analysis, Quantitative, Varies
Diagnosing systemic mastocytosis
MRSAP - Overview: Methicillin Resistant Staphylococcus aureus, PCR, Nasal
Rapid screening test for Staphylococcus aureus nasal carriage that, if positive, indicates whether the S aureus is methicillin susceptible or resistant This test should not be used to guide or monitor treatment for methicillin-resistant S...
MYCO - Overview: Mycoplasma pneumoniae Antibodies, IgG and IgM, Serum
Screening for recent or past exposure to Mycoplasma pneumoniae This test should not be used as a screening procedure for the general population.
MLHPB - Overview: MLH1 Hypermethylation Analysis, Blood
As an adjunct to positive hypermethylation in tumor to distinguish between somatic and germline hypermethylation As an adjunct to negative MLH1 germline testing in cases where colon or endometrial tumor demonstrates microsatellite...
SMPU - Overview: Monoclonal Protein Screen, 24 Hour, Urine
Monitoring patients with monoclonal gammopathies
URRP - Overview: Ureaplasma species, Molecular Detection, PCR, Varies
Rapid, sensitive, and specific identification of Ureaplasma urealyticum and Ureaplasma parvum from genitourinary, reproductive, bone, spine, joint, and lower respiratory sources This test is not intended for medicolegal use.
Predicting risk for statin-associated myopathy in patients beginning statin therapy, especially simvastatin therapy Determining a potential statin lipid lowering response, especially when using pravastatin
TPRPS - Overview: ThinPrep Screen, Varies
Screening for cervical carcinoma or intraepithelial lesions
TPRPD - Overview: ThinPrep Diagnostic, Varies
Detecting cervical carcinoma or intraepithelial lesions when screening women for possible cervical neoplasia
WNC - Overview: West Nile Virus Antibody, IgG and IgM, Spinal Fluid
Aiding in diagnosis of central nervous system infection with West Nile virus
CIB - Overview: Cutaneous Direct Immunofluorescence Assay, Varies
Confirming a diagnosis of bullous pemphigoid, cicatricial pemphigoid, pemphigoid gestationis and other variants of pemphigoid, all types of pemphigus, including paraneoplastic pemphigus (paraneoplastic multiorgan syndrome), dermatitis...
WGSDX - Overview: Whole Genome Sequencing for Hereditary Disorders, Varies
Serving as a first-tier test to identify a molecular diagnosis in patients with suspected genetic disorders, which can allow for: -Better understanding of the natural history/prognosis -Targeted management (anticipatory guidance, management...
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...
ASUOE - Overview: Arsenic Occupational Exposure, with Reflex, Random, Urine
Preferred screening test for detection of occupational exposure to arsenic in random urine specimens
CMAMT - Overview: Chromosomal Microarray, Autopsy/Products of Conception/Stillbirth, Tissue
Diagnosis of congenital copy number changes in products of conception, including aneuploidy (ie, trisomy or monosomy) and structural abnormalities Diagnosing chromosomal causes for fetal death Determining recurrence risk of future...
HV1CD - Overview: HIV-1 and HIV-2 Antibodies for Cadaveric or Hemolyzed Specimens, Serum
Diagnosing HIV-1 and/or HIV-2 infection in cadaveric or hemolyzed serum specimens from symptomatic patients with or without risk factors for HIV infection This test is not offered as a screening or confirmatory test for blood donor...
MPS2Z - Overview: Hunter Syndrome, Full Gene Analysis, Varies
Confirmation of a diagnosis of mucopolysaccharidosis type II (Hunter syndrome) Carrier testing when there is a family history of mucopolysaccharidosis type II (Hunter syndrome), but disease-causing variants have not been previously...
CHRHB - Overview: Chromosome Analysis, Hematologic Disorders, Blood
Assisting in the classification and follow-up of certain malignant hematological disorders when bone marrow is not available This test is not useful for congenital disorders.
HV1CM - Overview: HIV-1 and HIV-2 Antibody Screen for Hemolyzed Specimens, Serum
Screening cadaveric or hemolyzed serum specimens for HIV-1 and/or HIV-2 infection in nonsymptomatic patients with or without risk factors for HIV infection This test is not offered as a screening or confirmatory test for blood donor...
GPSY - Overview: Glucopsychosine, Blood Spot
Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified Diagnosis and monitoring of patients with Gaucher disease using dried blood spot specimens Monitoring a patient's response to...
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mdazl-rhode-island-certification.pdf
0 Q £ IS l -t1 .,. ... ';.� +"'" ¾liNT 0� State of Rhode Island DEPARTMENT OF HEALTH Center for Health Facilities Regulation This is to certify that MAYO CLINIC MOLECULAR...
newborn_screen_follow-up_for_x-linked_adrenoleukodystrophy.pdf
(MFMER). All rights reserved. 03/2023 Newborn screen result: Elevated lysophosphatidylcholines C24:0, C26:0 Order POX / Fatty Acid Profile, Peroxisomal (C22-C26), Serum Elevated very long chain fatty a....
galactosemia_testing_algorithm.pdf
07/2024 GALT <24.5 nmol/h/mg of hemoglobin GALT ≥24.5 nmol/h/mg of hemoglobin 2 variants identified 0–1 variants identified and discordant enzyme results 1 variant identif......
critical-values-semi-urgent-results-list.pdf
High Units Activated Partial Thromboplastin Time, Plasma Any – ≥ 150 sec Fibrinogen Any ≤ 60 – mg/dL 0 – 7 weeks ≤ 6.0 ≥ 24.0 g/dL > 7 weeks ≤ 6.0 ≥ 20.0 g/dL INR (International Normalizing Ratio......
vitamin_b12_deficiency_evaluation.pdf
© Mayo Foundation for Medical Education and Research (MFMER). All rights reserved. 03/2022 Vitamin B12 Deficiency Evaluation <150 ng/L>400 ng/L 150-400 ng/L ≤0.4 nmol/mL >0.4 nmol/mL INDETERMINATE ACASM / Pernicious Anemia Cascade,...