AATHR - Overview: Thrombophilia Profile, Plasma and Whole Blood
Evaluating patients with thrombosis or hypercoagulability states Detecting a lupus-like anticoagulant; dysfibrinogenemia; disseminated intravascular coagulation/intravascular coagulation and fibrinolysis Detecting a deficiency of...
WESDX - Overview: Whole Exome Sequencing for Hereditary Disorders, Varies
Serving as a first-tier test to identify a molecular diagnosis in patients with suspected genetic disorders, which can allow for: -Better understanding of the natural history/prognosis -Targeted management (anticipatory guidance, management...
TOXGP - Overview: Toxoplasma gondii Antibody, IgG, Serum
Determining whether a patient has had previous exposure to or recent infection with Toxoplasma gondii This test is not useful for diagnosing infection in infants younger than 6 months of age. In that age group, IgG antibodies usually are...
VHLE - Overview: VHL Gene, Erythrocytosis, Mutation Analysis, Varies
Diagnosis of suspected JAK2-negative VHL-related erythrocytosis associated with lifelong sustained increased RBC mass, elevated RBC count, hemoglobin, or hematocrit
WEGG - Overview: Whole Egg, IgE, Serum
Establishing a diagnosis of an allergy to whole egg Defining the allergen responsible for eliciting signs and symptoms Identifying allergens: -Responsible for allergic response and/or anaphylactic episode -To confirm sensitization prior...
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...
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...
AFH - Overview: Factor H Autoantibody, Serum
Detection and quantification of antibodies to factor H Monitoring patients with known factor H autoantibodies Aiding in the differential diagnosis of thrombotic microangiopathy and C3 glomerulopathies
7INHE - Overview: Factor VII Inhibitor Evaluation, Plasma
Detection and quantitation of inhibitor to coagulation factor VII This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a nonspecific circulating anticoagulant, or other inhibitors that are not...
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
KITQ - Overview: KIT p.Asp816Val Variant Analysis, Quantitative, Varies
Diagnosing systemic mastocytosis
ATTF - Overview: Antithrombin Activity, Plasma
Diagnosis of antithrombin deficiency, acquired or congenital Monitoring treatment of antithrombin deficiency disorders, including infusion of antithrombin therapeutic concentrate
IDUAW - Overview: Alpha-L-Iduronidase, Leukocytes
Diagnosis of mucopolysaccharidosis I, Hurler, Scheie, and Hurler-Scheie syndromes in leukocytes This test is not useful for determining carrier status.
AL - Overview: Aluminum, Serum
Preferred monitoring for aluminum toxicity in patients undergoing dialysis Preferred test for routine aluminum screening Monitoring metallic prosthetic implant wear
BMAMA - Overview: Basic Metabolic Panel, Serum
Routine health monitoring or patient monitoring while hospitalized for information regarding metabolism, including the current kidney status, electrolyte, and acid/base balance, and blood glucose
NSESF - Overview: Neuron-Specific Enolase (NSE), Spinal Fluid
An auxiliary test in the diagnosis of Creutzfeldt-Jakob disease An auxiliary test in the diagnosis of small cell lung carcinoma metastasis to central nervous system or leptomeninges
Diagnosing infections due to Mycoplasma (Mycoplasmoides) pneumoniae Assessing macrolide susceptibility
RMPQU - Overview: Monoclonal Protein Quantitation, Random, Urine
Identifying monoclonal gammopathies using random urine specimens
SCL70 - Overview: Scl 70 Antibodies, IgG, Serum
Evaluating patients with clinical features of systemic sclerosis and in the differential evaluation of individuals at-risk for connective tissue disease with Hep-2 substrate antinuclear antibody positive result, preferably using antinuclear...
MPU - Overview: Monoclonal Protein Studies, 24 Hour, Urine
Monitoring patients with monoclonal gammopathies
RMPU - Overview: Monoclonal Protein Studies, Random, Urine
Identifying monoclonal gammopathies using random urine specimens
MGMT - Overview: MGMT Promoter Methylation, Tumor
Prognostication of newly diagnosed patients with glioblastoma, IDH-wildtype Identifying newly diagnosed glioblastoma, IDH-wildtype patients that may respond to alkylating chemotherapy (ie, temozolomide) Guiding therapy decision making for...
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.
STSH - Overview: Thyroid-Stimulating Hormone-Sensitive (s-TSH), Serum
Screening for thyroid dysfunction and detecting mild (subclinical), as well as overt, primary hypo- or hyperthyroidism in ambulatory patients Monitoring patients on thyroid replacement therapy Confirmation of thyrotropin (TSH, formerly...
ROPAN - Overview: Ro52 and Ro60 Antibodies, IgG, Serum
Evaluating patients at risk for connective tissue disease with or without interstitial lung disease Differentiation of antibodies to Ro52 and Ro60 in patients known to be positive for anti-SS-A (Ro) antibodies
CMAT - Overview: Chromosomal Microarray, Tumor, Fresh or Frozen
Genomic characterization of tumor for copy number imbalances and loss of heterozygosity Assisting in the diagnosis and classification of malignant neoplasms, including hematolymphoid malignancies Evaluating the prognosis for patients with...
CCP - Overview: Cyclic Citrullinated Peptide Antibodies, IgG, Serum
Evaluating patients suspected of having rheumatoid arthritis (RA) Differentiating RA from other inflammatory arthritis or connective tissue diseases
DTABS - Overview: Diphtheria/Tetanus Antibody Panel, Serum
Assessing antibody response to tetanus and diphtheria toxoid vaccines, which should be performed at least 3 weeks after immunization Aiding in the evaluation of immunodeficiency This test should not be used to diagnose tetanus infection
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.
EGGPF - Overview: Egg Comprehensive Profile, Serum
Identifying egg allergens: -Responsible for allergic disease and/or anaphylactic episode -To confirm sensitization prior to beginning immunotherapy This test is not useful for patients previously treated with immunotherapy to determine if...
MMPGM - Overview: Mumps Virus Antibody, IgM and IgG, Serum
Diagnosis of mumps virus infection Determination of postimmunization immune response of individuals to the mumps vaccine Documentation of previous infection with mumps virus in an individual with no previous record of immunization to...
Supporting the diagnosis of low-grade fibromyxoid sarcoma when used in conjunction with an anatomic pathology consultation
IHC - Overview: Mismatch Repair (MMR) Protein Immunohistochemistry Only, Tumor
Evaluating tumor tissue to identify patients at risk for having hereditary nonpolyposis colon cancer/Lynch syndrome
RSMPU - Overview: Monoclonal Protein Screen, Random, Urine
Identifying monoclonal gammopathies using random urine specimens
PVLE - Overview: Paraneoplastic Vision Loss Evaluation, Serum
Evaluating patients with rapidly progressive vision loss where a paraneoplastic cause for vision loss (retinopathy or optic neuritis with other findings [eg, retinitis] is suspected) Evaluating patients with small-cell carcinoma who...
PLAFL - Overview: Platelet Surface Glycoprotein by Flow Cytometry, Blood
Identification of markedly decreased CD41 (GPIIb) and CD61 (GPIIIa) expression levels, which are diagnostic for Glanzmann thrombasthenia Identification of markedly decreased CD42a (GPIX) and CD42b (GPIb-alpha) expression levels, which are...
ACLIP - Overview: Phospholipid (Cardiolipin) Antibodies, IgA, Serum
May be of diagnostic significance for patients at risk for antiphospholipid syndrome or systemic lupus erythematosus who test negative for criterial antiphospholipid antibodies
PSPTG - Overview: Phosphatidylserine/Prothrombin Antibody, IgG, Serum
Detecting IgG antibodies against phosphatidylserine/prothrombin complex in patients with strong suspicion of antiphospholipid syndrome (APS) who are negative for the APS criteria laboratory tests (lupus anticoagulant, IgG and IgM...
PLINK - Overview: Paroxysmal Nocturnal Hemoglobinuria, PI-Linked Antigen, Blood
Screening for and confirming the diagnosis of paroxysmal nocturnal hemoglobinuria (PNH) Monitoring patients with PNH
XHIM - Overview: X-Linked Hyper IgM Syndrome, Blood
Screening for X-linked hyper-IgM (XL-HIGM) or CD40L deficiency, primarily in male patients younger than 10 years Ascertaining XL-HIGM carrier status in women of child-bearing age (younger than 45 years)
ASU24 - Overview: Arsenic with Reflex, 24 Hour, Urine
Preferred screening test for detection of arsenic exposure using 24-hour urine specimens
1A2Q - Overview: Cytochrome P450 1A2 Genotype, Varies
Identifying individuals who are poor, intermediate, normal (extensive) or rapid metabolizers of drugs metabolized by cytochrome P450 1A2 to assist drug therapy decision making
ROS1F - Overview: Lung Cancer, ROS1 (6q22) Rearrangement, FISH, Tissue
Fluorescence in situ hybridization (FISH) testing for ROS1 allows for the detection of most ROS1 rearrangements, therefore, is useful for identifying tumors that may be sensitive to directed therapy ROS1 FISH testing may also support the...
NUT1F - Overview: NUTM1 (15q14) Rearrangement, FISH, Tissue
Identifying NUTM1 gene rearrangements in patients with nuclear protein in testis midline carcinoma to aid in confirming or excluding the diagnosis
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...
TERTD - Overview: TERT Promoter Mutation Analysis, Droplet Digital PCR, Tumor
Identifying specific mutations within the TERT promoter that assist in tumor diagnosis/classification
HRSPF - Overview: Horse Dander, IgE with Reflex to Horse Dander Component, IgE, Serum
Evaluating patients with suspected horse dander allergy
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.
8INHE - Overview: Factor VIII Inhibitor Evaluation, Plasma
Detecting the presence and titer of a specific factor inhibitor directed against coagulation factor VIII This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a nonspecific circulating...
State-of-the-art genetics panel optimizes kidney disease treatment - Insights
Linnea M. Baudhuin, Ph.D., and Emily K. Thoreson, M.S., CGC, explain how Mayo Clinic Laboratories renal genetics testing provides comprehensive, accurate and actionable results. Identifying a genetic cause...
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newborn-screen-decreased-free-carnitineco.pdf
acylcarnitines relatively low Perform: Plasma ammonia, blood gas, glucose, electrolytes, creatine k......