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Test Catalog

CMAPT - Overview: Chromosomal Microarray, Tumor, Formalin-Fixed Paraffin-Embedded

Genomic characterization of tumor for copy number imbalances and loss of heterozygosity Assisting in the diagnosis and classification of malignant neoplasms Evaluating the prognosis for patients with malignant tumors

LFACX - Overview: Cryptococcus Antigen with Reflex, Spinal Fluid

Aiding in the diagnosis of cryptococcosis This test should not be used as a test of cure or to guide treatment decisions. This test should not be performed as a screening procedure for the general population.

EBVQN - Overview: Epstein-Barr Virus DNA Detection and Quantification, Plasma

Diagnosis of Epstein-Barr virus (EBV)-associated infectious mononucleosis in individuals with equivocal or discordant EBV serologic marker test results Diagnosis of post-transplant lymphoproliferative disorders (PTLD), especially in...

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

CMAH - Overview: Chromosomal Microarray, Hematologic Disorders, Varies

Detection and characterization of clonal copy number imbalance and loss of heterozygosity associated with hematologic neoplasms Assisting in the diagnosis and classification of certain hematologic neoplasms Evaluating the prognosis for...

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)

EGFRS - Overview: EGFR Gene, Targeted Mutation Analysis, 51 Mutation Panel, Tumor

Identifying non-small cell lung cancers that may respond to epidermal growth factor receptor-targeted therapies

MPS2B - Overview: Endogenous Mucopolysaccharidosis Type II (I2S [Iduronate-2-Sulfatase]) Biomarker, Blood Spot

Second-tier testing of newborns with an abnormal primary screening result for mucopolysaccharidosis type II (MPS II, decreased iduronate-2-sulfatase) Follow-up testing for evaluation of an abnormal newborn screening result for MPS II This...

MPS1B - Overview: Endogenous Mucopolysaccharidosis Type I (IDUA [Alpha-L-Iduronidase]) Biomarker, Blood Spot

Second-tier testing of newborns with an abnormal primary screening result for mucopolysaccharidosis type I (MPS I) (decreased alpha-L-iduronidase activity) Follow-up testing for evaluation of an abnormal newborn screening result for MPS...

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...

CLFA - Overview: Cryptococcus Antigen Screen with Titer, Spinal Fluid

Aiding in the diagnosis of cryptococcosis This test should not be performed as a screening procedure for the general population. This test should not be used as a test of cure or to guide treatment decisions.

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

LENT - Overview: Enterovirus, Molecular Detection, PCR, Varies

Aiding in diagnosing enterovirus infections This test should not be used to screen asymptomatic patients.

EPOR - Overview: Erythropoietin Receptor (EPOR) Gene, Exon 8 Sequencing, Whole Blood

Assessing EPOR in the evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit

HIP12 - Overview: HIV-1/HIV-2 RNA Detection, Plasma

Diagnosis of HIV-1 and/or HIV-2 infection in individuals with indeterminate or inconclusive HIV serologic test results Diagnosis of HIV-1 and/or HIV-2 infection in individuals with acute or early HIV-1 and/or HIV-2 infection Diagnosis of...

HIS12 - Overview: HIV-1/HIV-2 RNA Detection, Serum

Diagnosis of HIV-1 and/or HIV-2 infection in individuals with indeterminate or inconclusive HIV serologic test results Diagnosis of HIV-1 and/or HIV-2 infection in individuals with acute or early HIV-1 and/or HIV-2 infection Diagnosis...

HBVQN - Overview: Hepatitis B Virus (HBV) DNA Detection and Quantification by Real-Time PCR, Serum

Detection and quantification of hepatitis B virus (HBV) DNA in serum of patients with chronic HBV infection (ie, hepatitis B surface antigen-positive) Monitoring disease progression in chronic HBV infection Monitoring response to anti-HBV...

HIF2A - Overview: Hypoxia-Inducible Factor Alpha (EPAS1/HIF2A) Gene, Exons 9 and 12 Sequencing, Whole Blood

Assessing HIF2A/EPAS1 in the evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit

LBCS - Overview: Labile Bound Copper, Serum

May be useful in the evaluation of copper-related disorders, including Wilson disease

IDHQ - Overview: IDH1 (R132) and IDH2 (R140 and R172) Quantitative Detection, Droplet Digital PCR, Varies

Detecting IDH1 R132 and IDH2 R140 and R172 mutations in acute myeloid leukemia patients at the time of diagnosis to guide targeted therapy Monitoring minimal residual disease during the clinical and therapeutic course

HTLLC - Overview: Human T-Cell Lymphotropic Virus Types 1 and 2 (HTLV-1/-2) Antibody Confirmation, Spinal Fluid

Confirmatory detection of human T-cell lymphotropic virus types 1 and 2 (HTLV-1 and HTLV-2)-specific IgG antibodies in spinal fluid specimens that are consistently reactive by initial screening tests Differentiating between HTLV-1- and...

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.

GPSYW - Overview: Glucopsychosine, Blood

Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified Diagnosis and monitoring of patients with Gaucher disease using whole blood specimens Supporting the biochemical diagnosis of...

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.

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...

MSDBS - Overview: Multiple Sulfatase Deficiency, Blood Spot

Supporting the biochemical diagnosis of multiple sulfatase deficiency This test is not useful for carrier detection.

SGTF - Overview: MYB (6q23) Rearrangement FISH, Tissue

Assessing for MYB gene rearrangements in patients with primary salivary gland carcinoma to aid in confirming or excluding the diagnosis of primary salivary gland adenoid cystic carcinomas

OXNP - Overview: Oxysterols, Plasma

Investigating a possible diagnosis of Niemann-Pick disease types A, B, or C using plasma specimens Monitoring of individuals with Niemann-Pick type C disease This test is not useful for the identification of carriers.

OXYWB - Overview: Oxysterols, Blood

Investigating a possible diagnosis of Niemann-Pick disease type A, B, or C using whole blood specimens Monitoring of individuals with Niemann-Pick type C disease This test is not useful for the identification of carriers.

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...

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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...

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......

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...

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...