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Test Catalog
Detecting drug use involving stimulants, barbiturate, benzodiazepines, cocaine, opioids, tetrahydrocannabinol, alcohol, and nicotine This test is not intended for use in employment-related testing.
HPGLP - Overview: Hereditary Paraganglioma/Pheochromocytoma Panel, Varies
Evaluating patients with a personal or family history suggestive of a hereditary paraganglioma and pheochromocytoma (PGL/PCC) syndrome Establishing a diagnosis of a hereditary PGL/PCC, allowing for targeted surveillance based on...
CLADP - Overview: Congenital Lactic Acidosis Panel, Varies
Follow up for abnormal biochemical results suggestive of congenital lactic acidosis Establishing a molecular diagnosis for patients with congenital lactic acidosis Identifying variants within genes known to be associated with congenital...
GBAW - Overview: Beta-Glucosidase, Leukocytes
Diagnosis of Gaucher disease This test is not intended for carrier detection.
HEAG - Overview: Hepatitis B Virus e Antigen and Hepatitis B Virus e Antibody, Serum
Determining the presence or absence of detectable hepatitis B virus e antigen and antibody in monitoring infection status of individuals with chronic hepatitis B Determining infectivity of hepatitis B virus (HBV) carriers Monitoring...
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.
Evaluation of patients with an abnormal newborn screen showing elevations of glutarylcarnitine (C5-DC) using serum specimens Evaluation of patients with abnormal newborn screens showing elevations of C4- acylcarnitine to aid in the...
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
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
CATLN - Overview: Calcitonin, Fine-Needle Aspiration Biopsy Needle Wash, Lymph Node
As an adjunct to cytologic examination of fine-needle aspiration specimens in athyrotic individuals treated for medullary thyroid carcinoma to confirm or exclude metastases in enlarged or ultrasonographically suspicious lymph nodes
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...
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
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...
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
GLBF - Overview: Glucose, Body Fluid
Aiding in the diagnosis of infection using body fluid specimens
HSVG - Overview: Herpes Simplex Virus (HSV) Type 1- and Type 2-Specific Antibodies, IgG, Serum
Determining whether a patient has been previously exposed to herpes simplex virus (HSV) types 1 and 2 Distinguishing between infection caused by HSV types 1 and 2, especially in patients with subclinical or unrecognized HSV infection...
Assessing pure isolates of Helicobacter pylori to predict clarithromycin resistance or susceptibility
Evaluation of patients with an abnormal newborn screen showing elevations of glutarylcarnitine (C5-DC) using plasma specimens Evaluation of patients with abnormal newborn screens showing elevations of C4- acylcarnitine to aid in the...
NCLBS - Overview: Neuronal Ceroid Lipofuscinosis, Two-Enzyme Panel, Blood Spot
Supporting the biochemical diagnosis of two neuronal ceroid lipofuscinoses, CLN1 and CLN2 This test is not useful for carrier detection.
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.
NSE - Overview: Neuron-Specific Enolase, Serum
A follow-up marker in patients with neuron-specific enolase-secreting tumors of any type An auxiliary test in the diagnosis of small cell lung carcinoma An auxiliary test in the diagnosis of carcinoids, islet cell tumors, and...
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...
CFX - Overview: Protein C Activity, Plasma
As an initial test for evaluating patients suspected of having congenital protein C deficiency, including those with personal or family histories of thrombotic events Detecting and confirming congenital type I and type II protein C...
PHD2 - Overview: Prolyl Hydroxylase Domain-2 (PHD2/EGLN1) Gene Sequencing, Whole Blood
Assessing PHD2/EGLN1 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
DHEA_ - Overview: Dehydroepiandrosterone (DHEA), Serum
Diagnosing and differential diagnosis of hyperandrogenism (in conjunction with measurements of other sex steroids) As an initial screen in adults with bioavailable testosterone measurement that may be supplemented with measurements of sex...
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
STL - Overview: Enteric Pathogens Culture, Feces
Determining whether a bacterial enteric pathogen is the cause of diarrhea May be helpful in identifying the source of the infectious agent (eg, dairy products, poultry, water, or meat) This test is generally not useful for patients...
EBVPV - Overview: Epstein-Barr Virus (EBV), Molecular Detection, PCR, Varies
Rapid qualitative detection of Epstein-Barr virus (EBV) DNA in specimens Diagnosis of disease due to EBV This test should not be used to screen asymptomatic patients.
CCFR - Overview: Cortisol/Cortisone, Free, Random, Urine
Investigating suspected Cushing syndrome (hypercortisolism), when a 24-hour collection is prohibitive (ie, pediatric patients) Assisting in diagnosing acquired or inherited abnormalities of 11-beta-hydroxy steroid dehydrogenase (cortisol...
MALP - Overview: Malabsorption Evaluation Panel, Feces
Evaluation of patients with suspected malabsorption, as suggested by chronic diarrhea, unexplained weight loss, or nutritional deficiencies Differentiation between causes of malabsorption, specifically inflammatory conditions, pancreatic...
RMPQU - Overview: Monoclonal Protein Quantitation, Random, Urine
Identifying monoclonal gammopathies using random urine specimens
TPMT3 - Overview: Thiopurine Methyltransferase Activity Profile, Erythrocytes
Detection of individuals with low thiopurine methyltransferase (TPMT) activity who are at risk for excessive myelosuppression or severe hematopoietic toxicity when taking thiopurine drugs Detection of individuals with hyperactive TPMT...
TYRBS - Overview: Tyrosinemia Follow Up Panel, Blood Spot
Monitoring of individuals with tyrosinemia type 1 (HT-1) Diagnosis of HT-1 when used in conjunction with testing for urine organic acids, liver function, alpha-fetoprotein, and molecular genetic analysis of the fumarylacetoacetate...
TBPZA - Overview: Susceptibility, Mycobacterium tuberculosis Complex, Pyrazinamide, Varies
Susceptibility testing of Mycobacterium tuberculosis complex isolates growing in pure culture against pyrazinamide This test is not useful for Mycobacterium bovis and Myocobacterium bovis bacille Calmette-Guerin (BCG) isolates as they are...
2B6Q - Overview: Cytochrome P450 2B6 Genotype, Varies
Aiding in determining therapeutic strategies for drugs that are metabolized by cytochrome P450 (CYP) 2B6 Providing information relevant to bupropion, efavirenz, ketamine, methadone, and nevirapine, as well as other medications metabolized...
TGAB - Overview: Thyroglobulin Antibody, Serum
As an adjunct in the diagnosis of autoimmune thyroid diseases: Hashimoto disease, postpartum thyroiditis, neonatal hypothyroidism, and Graves disease
Detection and differentiation between recent, past/resolved, or chronic hepatitis B Diagnosis of recent hepatitis B virus (HBV) infection during the "window period" when both hepatitis B surface (HBs) antigen and anti-HBs are negative...
MPQU - Overview: Monoclonal Protein Quantitation, 24 Hour, Urine
Monitoring patients with monoclonal gammopathies using 24-hour urine collections
SMPU - Overview: Monoclonal Protein Screen, 24 Hour, Urine
Monitoring patients with monoclonal gammopathies
QMPTS - Overview: Monoclonal Protein Isotype, Quantitative, Serum
Aiding in the diagnosis and monitoring of monoclonal gammopathies if used in conjunction with free light chain studies This test alone is not considered an adequate screen for monoclonal gammopathies.
RSMPU - Overview: Monoclonal Protein Screen, Random, Urine
Identifying monoclonal gammopathies using random urine specimens
AUTOG - Overview: Autoinflammatory Disorders Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited autoinflammatory disorder Establishing a diagnosis of a monogenic autoinflammatory disorder, allowing for appropriate...
WESPR - Overview: Panel to Whole Exome Sequencing Reflex Test, Varies
Serving as a second-tier test for patients in whom previous genetic testing was negative or inconclusive Identifying causative variants in genes that were not included on panel testing which can allow for: -Better understanding of the...
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...
AB2GP - Overview: Beta-2 Glycoprotein 1 Antibodies, IgA, Serum
Evaluating patients with suspected antiphospholipid syndrome by identification of beta-2 glycoprotein 1 IgA antibodies Evaluating patients at-risk for antiphospholipid syndrome (APS) who are negative for criteria APS tests Estimating the...
NAIFA - Overview: Antinuclear Antibodies, HEp-2 Substrate, IgG, Serum
Evaluation of patients suspected of having systemic autoimmune rheumatic disease (ANA-associated rheumatic diseases or connective tissue disease) or organ-specific autoimmune diseases such as autoimmune liver diseases
ARSAW - Overview: Arylsulfatase A, Leukocytes
Preferred enzymatic test for detection of arylsulfatase A deficiency This test is not suitable for carrier detection.
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vitamin_b12_deficiency_evaluation.pdf
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, Serum Testing...
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_mucopolysaccharidosis_type_i.pdf
rights reserved. 03/2024 Newborn screen result: decreased alpha-L-iduronidase (IDUA) Order 1 from each of the following groups: ■ IDUAW / Alpha-L-Iduronidase, Leukocytes AND ■ MPSBS / Mucop......
Algorithms - Mayo Clinic Laboratories
F G H I J K L M ...
lysosomal_storage_disorders_diagnostic_algorithm__part_1.pdf
Order: IDUAW / Alpha-L-Iduronidase, Leukocytes Order 1 of the following: ■ BGA / Beta-Galactosidase, Leukocytes ■ MPS4B ■ MPS4W Order: FUCW / Alpha-Fucosidase, Leukocytes Order 1 of the following: MPS4W...