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Test Catalog

NMITO - Overview: Nuclear Mitochondrial Gene Panel, Next-Generation Sequencing, Varies

Diagnosing the subset of mitochondrial disease that results from variants in the nuclear-encoded genes A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial disease-related genes were...

HIQNP - Overview: HIV-1 RNA Detection and Quantification, Prenatal, Plasma

Diagnosis of HIV-1 infection in pregnant individuals with acute or early HIV-1 infection Quantifying plasma HIV-1 RNA levels (viral load) in pregnant individuals living with HIV-1: -Before initiating anti-HIV-1 drug therapy (baseline viral...

TLPMF - Overview: T-Cell Lymphoma, Specified FISH, Varies

Detecting, at diagnosis, common chromosome abnormalities associated with specific T-cell lymphoma subtypes using client specified probes

CRSY - Overview: Chromium, Synovial Fluid

Monitoring metallic prosthetic implant wear and local tissue destruction in failed hip arthroplasty constructs This test is not useful for assessment of potential chromium toxicity.

COSY - Overview: Cobalt, Synovial Fluid

Monitoring metallic prosthetic implant wear and local tissue destruction in failed hip arthroplasty constructs This test is not useful for assessment of nutritional status or potential cobalt toxicity.

CXCFX - Overview: MYD88 Reflex to CXCR4 Mutation Detection, Varies

The prognosis and clinical management of lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia

WNMC - Overview: West Nile Virus Antibody, IgM, Spinal Fluid

Aids in diagnosing central nervous system West Nile virus infections during the acute phase

PFCEA - Overview: Carcinoembryonic Antigen (CEA), Pleural Fluid

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

199PC - Overview: Carbohydrate Antigen 19-9 (CA 19-9), Pancreatic Cyst Fluid

As an adjunct in the assessment of pancreatic cysts, when used in conjunction with carcinoembryonic antigen, amylase, imaging studies and cytology

MCMRU - Overview: Mast Cell Mediators, Random, Urine

Evaluating patients at risk for mast cell activation syndrome (eg, systemic mastocytosis) using random urine collections

MCM24 - Overview: Mast Cell Mediators, 24 Hour, Urine

Evaluating patients at risk for mast cell activation syndrome (eg, systemic mastocytosis) using 24-hour urine collections

ARSBW - Overview: Arylsulfatase B, Leukocytes

Supporting the biochemical diagnosis of mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) in whole blood specimens This test is not useful for carrier detection.

NIU - Overview: Nickel, 24 Hour, Urine

Preferred test for biomonitoring patients for nickel exposure to minimize any potential diurnal variation

PC1TC - Overview: Purkinje Cell Cytoplasmic Antibody Type 1 (PCA-1) Titer, Spinal Fluid

Identifying female patients whose subacute cerebellar degeneration or peripheral neuropathy is due to a remote (autoimmune) effect of gynecologic or breast carcinoma Reporting an end titer result from spinal fluid specimens

COWB - Overview: Cobalt, Blood

Monitoring exposure to cobalt using whole blood specimens Monitoring metallic prosthetic implant wear This test is not useful for assessment of vitamin B12 activity.

TDP - Overview: Thiamine (Vitamin B1), Whole Blood

Assessment of thiamine deficiency Measuring thiamine levels in patients with behavioral changes, eye signs, gait disturbances, delirium, and encephalopathy; or in patients with questionable nutritional status, especially those who appear...

AFPSF - Overview: Alpha-Fetoprotein (AFP), Spinal Fluid

An adjunct in the diagnosis of central nervous system (CNS) germinomas and meningeal carcinomatosis Evaluating the presence of germ-cell tumors in the CNS, in conjunction with cerebrospinal fluid (CSF) beta-human chorionic gonadotropin...

APCRR - Overview: Activated Protein C Resistance V, with Reflex to Factor V Leiden, Blood and Plasma

Evaluating patients with incident or recurrent venous thromboembolism (VTE) Evaluating individuals with a family history of VTE

TLPDF - Overview: T-Cell Lymphoma, Diagnostic FISH, Varies

Detecting, at diagnosis, common chromosome abnormalities associated with specific T-cell lymphoma subtypes using a laboratory-designated probe set algorithm

SDHMP - Overview: SDH Genes Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the SDHA, SDHB, SDHC, and SDHD genes to assist in tumor diagnosis/classification, including pheochromocytoma/paraganglioma, renal cell carcinoma, and pituitary adenoma

C9ORF - Overview: C9orf72 Hexanucleotide Repeat, Molecular Analysis, Varies

Molecular confirmation of clinically suspected cases of c9FTD/ALS, frontotemporal dementia (FTD), or amyotrophic lateral sclerosis (ALS) Presymptomatic testing for individuals with a family history of c9FTD/ALS and a documented expansion...

CRCOF - Overview: Chromium and Cobalt, Synovial Fluid

Monitoring metallic prosthetic implant wear and local tissue destruction in failed hip arthroplasty constructs This test is not useful for assessment of vitamin B12 activity.

PTHFN - Overview: Parathyroid Hormone, Fine-Needle Aspiration Biopsy (FNAB)-Needle Wash

Discriminating thyroid tissue from enlarged parathyroid glands Facilitating parathyroid localization prior to surgery An adjunct to cytology examination of fine-needle aspiration specimens to confirm or exclude presence of parathyroid...

MNB - Overview: Manganese, Blood

Evaluation of central nervous system symptoms, similar to Parkinson disease, in manganese (Mn) miners and processors Characterization of liver cirrhosis Therapeutic monitoring in treatment of cirrhosis, parenteral nutrition-related Mn...

HEMP - Overview: Hereditary Erythrocytosis Mutations, Whole Blood

Definitive evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit This test is not intended for prenatal...

CMITO - Overview: Combined Mitochondrial Full Genome and Nuclear Gene Panel, Varies

Diagnosing mitochondrial disease that results from variants in either nuclear-encoded genes or the mitochondrial genome A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial...

HBA1C - Overview: Hemoglobin A1c, Blood

Evaluating the long-term control of blood glucose concentrations in patients with diabetes Diagnosing diabetes Identifying patients at increased risk for diabetes (prediabetes) This assay is not useful in determining day-to-day glucose...

CMAP - Overview: Chromosomal Microarray, Prenatal, Amniotic Fluid/Chorionic Villus Sampling

Prenatal diagnosis of copy number changes (gains or losses) across the entire genome Determining the size, precise breakpoints, gene content, and any unappreciated complexity of abnormalities detected by other methods, such as conventional...

MDSDF - Overview: Myelodysplastic Syndrome (MDS), Diagnostic FISH, Varies

Detecting a neoplastic clone associated with the common chromosome abnormalities seen in patients with myelodysplastic syndromes or other myeloid malignancies using a laboratory-designated probe set algorithm Evaluating specimens in which...

PATHC - Overview: Pathology Consultation

A subspecialty second opinion for a specific pathology question referred by a primary pathologist Note: A consultative opinion is not a full rendering of a primary diagnostic report (eg, multiple parts, margin status, CAP...

G6PDC - Overview: Glucose 6 Phosphate Dehydrogenase Enzyme Activity, Blood

Evaluation of individuals with episodic or chronic Coombs-negative nonspherocytic hemolytic anemia Rapid testing to assess glucose-6-phosphate dehydrogenase (G6PD) enzyme capacity prior to rasburicase or other therapies that may cause...

NGPCM - Overview: MayoComplete Plasma Cell Myeloma, Next-Generation Sequencing, Varies

Evaluating multiple myeloma at the time of diagnosis and at disease relapse or when changing clinical management to provide prognostic information and determine potential therapeutic implications

TPSF - Overview: Protein, Total, Spinal Fluid

Detecting disruptions of the blood-brain barrier or intrathecal synthesis of immunoglobulins

CEAPT - Overview: Carcinoembryonic Antigen (CEA), Peritoneal Fluid

An adjunct to cytology to differentiate between malignancy-related and benign causes of ascites formation

GLYCC - Overview: Glycine Receptor Alpha1 IgG, Cell Binding Assay, Spinal Fluid

Evaluating patients with suspected autoimmune stiff-person spectrum disorders (stiff-person syndrome, stiff-limb, stiff trunk, or progressive encephalomyelitis with rigidity and myoclonus [PERM]) using spinal fluids specimens

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sequential-maternal-serum-screening-testing-algorithm.pdf

All rights reserved. Sequential Maternal Serum Screening Testing Algorithm Diagnostic testing should be offered Screen-positive: results reported Screen-negative: results reported No f......

newborn-screen-follow-up-elevated-c5-oh.pdf

Foundation for Medical Education and Research (MFMER). All rights reserved. Newborn Screen Follow-up for Elevated C5-OH Newborn screen result: Elevated 3-hydroxyisovaleryl- /2-methyl-3-hydroxybutyryl-carnitine...

newborn-screen-follow-up-elevated-c4-oh-acylcarnitine.pdf

rights reserved. 09/2023 Newborn screen result: Elevated C4-OH acylcarnitine Perform: Plasma ammonia, blood gas, glucose, electrolytes Order: ■ OAU / Organic Acids Screen, Random, Urine ■ ......

newborn-screen-elevated-c0-c16-c18.pdf

Mayo Foundation for Medical Education and Research (MFMER). All rights reserved. 08/20/23 Newborn screen results: ■ Elevated or normal free carnitine (C0) ■ Elevated C0/C16+C18 ratio Perform: Plasma ammonia...

newborn-screen-decreased-free-carnitineco.pdf

Mayo Foundation for Medical Education and Research (MFMER). All rights reserved. 07/2025 Newborn screen result: ■ Decreased free carnitine (C0) Perform: Plasma ammonia, blood gas, glucose, electrolytes...