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Test Catalog

EMAI - Overview: Epithelial Membrane Antigen (EMA) Immunostain, Technical Component Only

Recognizing epithelial derivation of poorly differentiated malignant tumors Subtyping intraductal papillary mucinous neoplasms when used in conjunction with mucin (MUC) 2, MUC5AC and MUC6

KRTAE - Overview: Keratin (AE1/AE3) Immunostain, Technical Component Only

Identification of cells expressing a broad spectrum of cytokeratins (low and high molecular weight keratins)

2SC - Overview: S-(2-Succinyl)-Cysteine (2SC) Immunostain, Technical Component Only

Identification of high levels of aberrant S-(2-succino)-cysteine (2SC), secondary to pathogenic alterations of the fumarate hydratase (FH) gene

ROXUR - Overview: Oxalate, Random, Urine

Monitoring therapy for kidney stones using random urine specimens Identifying increased urinary oxalate as a risk factor for stone formation Diagnosis of primary or secondary hyperoxaluria

WBSEQ - Overview: Beta Globin Gene Sequencing, Varies

Diagnosis of beta thalassemia intermedia or major Identification of a specific beta thalassemia sequence variant (ie, unusually severe beta thalassemia trait) Evaluation of an abnormal hemoglobin electrophoresis identifying a rare...

CDG - Overview: Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation, Serum

Screening for congenital disorders of glycosylation This test is not useful for screening patients for chronic alcohol abuse.

CHRBM - Overview: Chromosome Analysis, Hematologic Disorders, Bone Marrow

Assisting in the diagnosis and classification of certain malignant hematological disorders in bone marrow specimens Evaluating the prognosis in patients with certain malignant hematologic disorders Monitoring effects of treatment...

G6PDZ - Overview: Glucose-6-Phosphate Dehydrogenase (G6PD) Full Gene Sequencing, Varies

Genetic test for individuals at high risk for glucose-6-phosphate dehydrogenase (G6PD) deficiency Aiding in the diagnosis of G6PD deficiency Determining G6PD deficiency status in individuals with inconclusive or unexpected phenotyping...

NGBCL - Overview: MayoComplete B-Cell Lymphoma, Next-Generation Sequencing, Varies

Aiding in establishing diagnosis, refining prognosis, and potentially identifying targeted therapies for the optimal management of patients with B-cell lymphomas

HPWET - Overview: Hematopathology Consultation, MCL Embed

Obtaining a rapid, expert opinion for diagnosis of hematologic and non-hematologic diseases using unprocessed bone marrow biopsy specimens referred by the primary pathologist Obtaining special studies that are not available locally

NENZ - Overview: Red Blood Cell Enzyme Disorders Gene Panel, Next-Generation Sequencing, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an underlying red blood cell enzymopathy Identifying variants within genes associated with phenotypic severity, allowing for...

GNBLF - Overview: Bleeding Disorders, Focused Gene Panel, Next-Generation Sequencing, Varies

Evaluating hereditary bleeding in patients with a personal or family history suggestive of a hereditary bleeding disorder and initial laboratory testing results are suggestive for factors VII, VIII, IX, or XI deficiency, or a von Willebrand...

GNFIB - Overview: Congenital Fibrinogen Disorders, FGA, FGB, and FGG Genes, Next-Generation Sequencing, Varies

Evaluating congenital fibrinogen disorders (CFD) in patients with a personal or family history suggestive of a fibrinogen disorder Confirming a CFD diagnosis with the identification of known or suspected disease-causing alterations in the...

ALBLD - Overview: Bleeding Diathesis Profile, Limited, Plasma

Detection of the more common potential causes of abnormal bleeding (eg, factor deficiencies/hemophilia, von Willebrand disease, factor-specific inhibitors) and a simple screen to evaluate for an inhibitor or severe deficiency of factor XIII...

B210R - Overview: BCR/ABL1, p210, mRNA Detection, Reverse Transcription-PCR (RT-PCR), Quantitative, Reflex, Varies

Diagnostic workup of patients with a high probability of BCR-ABL1-positive hematopoietic neoplasms, particularly chronic myeloid leukemia and Ph+ acute lymphoblastic leukemia (B-lymphoblastic leukemia), to provide a pretreatment...

A1APP - Overview: Alpha-1-Antitrypsin Phenotype, Serum

Identification of homozygous and heterozygous phenotypes of the alpha-1-antitrypsin deficiency

FFRWB - Overview: Friedreich Ataxia, Frataxin, Quantitative, Blood

Diagnosing individuals with Friedreich ataxia in whole blood specimens Monitoring frataxin levels in patients with Friedreich ataxia This test is not useful for carrier detection.

FLT - Overview: FLT3 Mutation Analysis, Varies

Prognostic indication for some patients with acute myeloid leukemia This test should not be used to monitor residual disease following treatment.

PF199 - Overview: Carbohydrate Antigen 19-9 (CA 19-9), Pleural Fluid

An adjuvant to cytology and imaging studies to differentiate between nonmalignant and malignant causes of pleural effusions

CMAFF - Overview: Chromosomal Microarray (CMA) Familial Testing, FISH

Determining the inheritance pattern of copy number changes previously identified by chromosomal microarray analysis in a patient and aiding in the clinical interpretation of the pathogenicity of the copy number change

BMIPB - Overview: Borrelia miyamotoi Detection, PCR, Blood

Aiding in the diagnosis of Borrelia miyamotoi infection in conjunction with clinical findings Preferred method for detection of B miyamotoi using blood specimens

CATN - Overview: Calcitonin, Serum

Aids in the diagnosis and follow-up of medullary thyroid carcinoma Aids in the evaluation of multiple endocrine neoplasia type II and familial medullary thyroid carcinoma This test is not useful for evaluating calcium metabolic...

TQ10 - Overview: Coenzyme Q10, Total, Plasma

Diagnosis of primary coenzyme Q10 (CoQ10) deficiencies in some patients who are not supplemented with CoQ10 Monitoring patients receiving statin therapy Monitoring CoQ10 status during treatment of various degenerative conditions,...

BRAFB - Overview: Cell-Free DNA BRAF V600, Blood

An alternative to invasive tissue biopsies for the determination of BRAF V600E and V600K alterations Identification of patients with cancer who are most likely to benefit from targeted therapies This test is not intended for serial...

CHLG - Overview: Chlamydia IgG, Immunofluorescence, Serum

Assessing IgG antibody levels to aid in the clinical diagnosis of Chlamydia pneumoniae or Chlamydia psittaci infections

EAEBV - Overview: Epstein-Barr Virus Early Antigen, IgG, Serum

Diagnosis of Epstein Barr virus (EBV) infectious mononucleosis in cases when heterophile antibody test results are negative and EBV-specific serologic testing is inconclusive Aiding in the diagnosis of type 2 or type 3 nasopharyngeal...

UHBAG - Overview: Histoplasma and Blastomyces Antigen, Enzyme Immunoassay, Urine

Diagnosing Histoplasma capsulatum or Blastomyces dermatitidis infection, without differentiation between the organisms, using random urine specimens Monitor antigen levels following initiation of antifungal treatment

GSH - Overview: Glutathione, Blood

Evaluation of neonatal hyperbilirubinemia, favism or chronic or episodic hemolysis or jaundice Evaluation for gamma-glutamylcysteine synthetase deficiency Evaluation for glutathione synthetase deficiency causing hemolytic anemia...

GIAR - Overview: Giardia Antigen, Feces

Sensitive screening for the detection of Giardia antigens present in fecal specimens

LAGU - Overview: Legionella Antigen, Random, Urine

An adjunct to culture for the detection of past or current Legionnaires disease (Legionella pneumophila serogroup 1)

MTBT - Overview: Mycobacterium tuberculosis Complex, Molecular Detection, PCR, Paraffin, Tissue

Preferred method for rapid detection of Mycobacterium tuberculosis complex DNA in formalin-fixed, paraffin-embedded tissue specimens Detecting M tuberculosis complex This test is not intended for the detection of latent tuberculosis and...

KKRP - Overview: Kingella kingae, Molecular Detection, PCR, Varies

Aiding in the diagnosis of Kingella kingae infection using tissue or synovial fluid specimens

JAK2V - Overview: JAK2 V617F Mutation Detection, Varies

Aiding in the distinction between a reactive blood cytosis and a chronic myeloproliferative disorder using extracted DNA specimens

JAKXM - Overview: JAK2 Exon 12 and Other Non-V617F Mutation Detection, Bone Marrow

Second-order testing to aid in the distinction between a reactive cytosis and a myeloproliferative neoplasm, particularly when a diagnosis of polycythemia is being entertained; for use with bone marrow specimens

I2SWB - Overview: Iduronate-2-Sulfatase, Leukocytes

Supporting the biochemical diagnosis of mucopolysaccharidosis II (MPS II; Hunter syndrome) in whole blood specimens This test is not useful for carrier detection for MPS II.

NMH1D - Overview: N-Methylhistamine, 24 Hour, 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 as a part of a profile Monitoring therapeutic progress in conditions...

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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...