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Q10 - Overview: Coenzyme Q10, Reduced and Total, Plasma

Diagnosis of primary coenzyme Q10 (CoQ10) deficiencies in some patients who are not supplemented with CoQ10 Diagnosis of CoQ10 deficiency in mitochondrial disorders Monitoring CoQ10 status during treatment of various degenerative...

SLFA - Overview: Cryptococcus Antigen Screen with Titer, Serum

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 used as a screening procedure for the general populations.

CRGSP - Overview: Cryoglobulin and Cryofibrinogen Panel, Serum and Plasma

Evaluating patients with vasculitis, glomerulonephritis, and lymphoproliferative diseases Evaluating patients with macroglobulinemia or myeloma in whom symptoms occur with cold exposure This test is not useful for general screening of a...

HPS12 - Overview: HIV-1/HIV-2 RNA Detection Prenatal, Serum

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

HPP12 - Overview: HIV-1/HIV-2 RNA Detection Prenatal, Plasma

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

JAKXB - Overview: JAK2 Exon 12 and Other Non-V617F Mutation Detection, Blood

Second-order testing to aid in the distinction between a reactive cytosis and a myeloproliferative neoplasm, particularly when a diagnosis of polycythemia is being considered, using blood specimens

HOLDC - Overview: Hematologic Disorders, Chromosome Hold, Varies

Holding the bone marrow or peripheral blood specimen in the laboratory but delaying chromosome analysis while preliminary morphologic assessment is in process

NMHR - Overview: N-Methylhistamine, Random, Urine

Screening for and monitoring of mastocytosis and disorders of systemic mast-cell activation, such as anaphylaxis and other forms of severe systemic allergic reactions using random urine specimens Monitoring therapeutic progress in...

PYRC - Overview: Pyruvate, Spinal Fluid

Investigating possible disorders of mitochondrial metabolism, when used in conjunction with cerebrospinal fluid lactate, collected at the same time, to determine the lactate-to-pyruvate (L:P) ratio Evaluating patients with neurologic...

POWVU - Overview: Powassan Virus, RNA, Molecular Detection, PCR, Random, Urine

Rapid testing for Powassan virus RNA (lineage 1 and lineage 2) using random urine specimens An adjunctive test to serology for detection of early Powassan virus infection (ie, first few days after symptom onset). This assay should not...

POWVC - Overview: Powassan Virus, RNA, Molecular Detection, PCR, Spinal Fluid

Rapid testing for Powassan virus RNA (lineage 1 and lineage 2) using cerebrospinal fluid specimens An adjunctive test to serology for detection of early Powassan virus infection (ie, first few days after symptom onset) This assay should...

PBGDW - Overview: Porphobilinogen Deaminase, Washed Erythrocytes

Confirmation of a diagnosis of acute intermittent porphyria using washed erythrocyte specimens

PDBS - Overview: Pompe Disease, Blood Spot

Evaluating patients with a clinical presentation suggestive of Pompe disease (muscle hypotonia, weakness, or cardiomyopathy) outside of the newborn screening setting

THYRO - Overview: Thyrotropin Receptor Antibody, Serum

Recommended first-line test for detection of thyrotropin receptor antibodies Differential diagnosis of etiology of thyrotoxicosis in patients with ambiguous clinical findings and/or contraindicated (eg, pregnant or breast-feeding) or...

TGQN - Overview: Thyroglobulin, Tumor Marker, Serum

Quantitative thyroglobulin measurement as a part of evaluating suspected interference from heterophile antibodies causing a falsely elevated thyroglobulin result

CRUZI - Overview: Trypanosoma cruzi (Chagas) Antibody Panel, Serum

Diagnosis of chronic Trypanosoma cruzi infection (Chagas disease) using two different methods

BRBST - Overview: Tickborne Bacterial, PCR and Sequencing, Blood

Detecting and identifying pathogenic tickborne bacteria infecting normally sterile whole blood Potential detection of bacteria that cause similar illnesses to tickborne infections This test should not be used as first tier test. It should...

AN1TS - Overview: Antineuronal Nuclear Antibody-Type 1 (ANNA-1) Titer, Serum

Diagnosis of paraneoplastic autoimmune neuropathies, encephalomyeloradiculopathies, related neurologic disorders, and intestinal pseudo-obstruction/dysmotility associated with small-cell lung carcinoma Reporting an end titer result from...

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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...