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Test Catalog
C2 - Overview: C2 Complement, Functional, with Reflex, Serum
Investigation of a patient with a low (absent) hemolytic complement, with reflex testing to C3 and C4, if appropriate
HIBC - Overview: Histoplasma/Blastomyces Panel, Spinal Fluid
Aiding in the diagnosis of histoplasmosis or blastomycosis meningitis
HSVPB - Overview: Herpes Simplex Virus (HSV), Molecular Detection, PCR, Blood
Aiding in the rapid diagnosis of disseminated disease due to herpes simplex virus (HSV) Qualitative detection of HSV DNA This test should not be used to screen asymptomatic patients.
OAUS - Overview: Organic Acids Screen, Urine Spot
Diagnosis of inborn errors of metabolism using dried urine specimens
NCLW - Overview: Neuronal Ceroid Lipofuscinosis, Two-Enzyme Panel, Leukocytes
Supporting the biochemical diagnosis of two neuronal ceroid lipofuscinoses, CLN1 and CLN2 in whole blood specimens This test is not useful for carrier detection.
OPTU - Overview: Orthostatic Protein, Timed Collection, Urine
Diagnosis of orthostatic proteinuria As a second-order test for additional characterization of proteinuria of less than 3 grams/24 hours, particularly in children or adolescents
OAU - Overview: Organic Acids Screen, Random, Urine
Diagnosis of inborn errors of metabolism
PSYCF - Overview: Psychosine, Spinal Fluid
Aiding in the biochemical diagnosis of Krabbe disease using cerebrospinal fluid specimens Follow-up of individuals affected with Krabbe disease Follow-up testing after an abnormal newborn screening result for Krabbe disease Monitoring...
PSA - Overview: Prostate-Specific Antigen (PSA) Diagnostic, Serum
As an aid in the detection of prostate cancer when used in conjunction with a digital rectal exam in men 50 years and older To aid in the prognosis and management of individuals diagnosed with prostate cancer
LNORO - Overview: Norovirus PCR, Molecular Detection, Feces
Diagnosing gastrointestinal disease (diarrhea or vomiting) caused by norovirus genogroups 1 and 2 This test should not be used as a test-of-cure.
PC2TC - Overview: Purkinje Cell Cytoplasmic Antibody Type 2 (PCA-2) Titer, Spinal Fluid
Evaluating patients who present with a subacute neurological disorder of undetermined etiology and have risk factors for lung cancer Reporting an end titer result from spinal fluid specimens
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
PKUBS - Overview: Phenylalanine and Tyrosine, Blood Spot
Monitoring effectiveness of therapy in patients with hyperphenylalaninemia This test is not sufficient for follow-up for abnormal newborn screening results or for establishing a diagnosis of a specific cause of hyperphenylalaninemia
PPFE - Overview: Protoporphyrins, Fractionation, Whole Blood
Evaluating patients with possible diagnoses of erythropoietic protoporphyria or X-linked dominant protoporphyria Establishing a biochemical diagnosis of erythropoietic protoporphyria and X-linked dominant protoporphyria
PC1TS - Overview: Purkinje Cell Cytoplasmic Antibody Type 1 (PCA-1) Titer, Serum
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 serum specimens
PC2TS - Overview: Purkinje Cell Cytoplasmic Antibody Type 2 (PCA-2) Titer, Serum
Evaluating patients who present with a subacute neurological disorder of undetermined etiology and have risk factors for lung cancer Reporting an end titer result from serum specimens
PRCAL - Overview: Procalcitonin, Serum
Monitoring antibiotic therapy and all-cause mortality for patients diagnosed with severe sepsis or septic shock in the Intensive Care Unit (ICU) or when obtained in the emergency department or other medical wards prior to ICU admission
RSBV - Overview: Rare Subepithelial Autoimmune Blistering Disease Variants, Serum
Aiding in the diagnosis of rare subepithelial autoimmune blistering diseases, including anti-laminin 332 pemphigoid, anti-p200 pemphigoid, epidermolysis bullosa acquisita, and systemic bullous lupus erythematosus
ROMA - Overview: ROMA Score (Ovarian Malignancy Risk Algorithm), Serum
Risk assessment for finding an ovarian malignancy during surgery in women who present with an adnexal mass The test is not intended as a screening or stand-alone diagnostic assay for ovarian cancer.
DCME - Overview: Dendritic Cell and Monocyte Enumeration, Blood
Aiding in the diagnosis of patients suspected of defects in innate immunity, particularly those involving monocyte and dendritic cell development This test has not been validated for the diagnosis of hematologic malignancies.
DHTS - Overview: Dihydrotestosterone, Serum
Monitoring patients receiving 5-alpha reductase inhibitor therapy or chemotherapy Evaluating patients with possible 5-alpha reductase deficiency
CJDEI - Overview: Creutzfeldt-Jakob Disease Evaluation Interpretation, Spinal Fluid
Interpretation of the Creutzfeldt-Jakob Disease Evaluation
CEE52 - Overview: CD52 Cell Expression Evaluation, Varies
Detecting cell-surface antigens on malignant cells that are potential therapeutic antibody targets, specifically CD52 Determining the eligibility of patients for monoclonal antibody therapies Monitoring response to the therapeutic...
CARN - Overview: Carnitine, Plasma
Evaluation of patients with a clinical suspicion of a wide range of conditions including organic acidemias, fatty acid oxidation disorders, and primary carnitine deficiency using plasma specimens
CARTF - Overview: Carbamazepine Profile, Serum
Monitoring patients exhibiting symptoms of carbamazepine toxicity whose total serum carbamazepine concentration is within the therapeutic range, but who may be producing significant levels of the active metabolite epoxide Free...
PRKAF - Overview: Fibrolamellar Carcinoma, 19p13.1 (PRKACA) Rearrangement, FISH, Tissue
Aid in the diagnosis of identifying PRKACA gene rearrangements of patients with fibrolamellar carcinoma
FENTX - Overview: Fentanyl with Metabolite Confirmation, Chain of Custody, Random, Urine
Detection and confirmation of illicit drug use involving fentanyl Chain of custody is required whenever the results of testing could be used in a court of law. Its purpose is to protect the rights of the individual contributing the...
Detecting Mycoplasma genitalium in cases of suspected infection in peritoneal fluid or prostatic secretion (VBIII) fluid/urine This test is not intended for use in medico-legal applications.
Rapid detection of Mycobacterium tuberculosis DNA from respiratory specimens for the diagnosis of pulmonary tuberculosis Presumptive detection of rifampin resistance based on the presence of resistance-associated mutations
LRBA - Overview: Lipopolysaccharide-Responsive Beige-Like Anchor Protein (LRBA) Deficiency, Blood
Aiding in the diagnosis of lipopolysaccharide-responsive beige-like anchor protein (LRBA) deficiency This test is not useful for identifying a carrier status for LRBA deficiency.
ROPG - Overview: Measles (Rubeola) Antibodies, IgG, Serum
Determining immune status of individuals to the measles virus Documenting previous infection with measles virus in an individual without a previous record of immunization to measles virus
MRDMM - Overview: Multiple Myeloma Minimal Residual Disease, Flow Cytometry, Bone Marrow
Detecting low level (minimal residual disease) myeloma cells after therapy.
ROM - Overview: Measles (Rubeola) Antibodies, IgM, Serum
Determining acute-phase infection with rubeola (measles) virus using IgM antibody testing Aiding in the identification of nonimmune individuals through IgM antibody testing
SSCTU - Overview: S-Sulfocysteine Panel, Urine
Diagnosis of molybdenum cofactor deficiency, isolated sulfite oxidase deficiency, and hereditary xanthinuria Monitoring patients with molybdenum cofactor deficiency or isolated sulfite oxidase deficiency who are on treatment
T3 - Overview: T3 (Triiodothyronine), Total, Serum
Second-order testing for hyperthyroidism in patients with low thyroid-stimulating hormone values and normal thyroxine levels Diagnosing triiodothyronine (T3) toxicosis This test is not useful for general screening of the population...
SUAC - Overview: Succinylacetone, Blood Spot
Second-tier newborn screen for tyrosinemia type 1 (HT-1) when primary screen showed nonspecific elevations of tyrosine Diagnosing HT-1 when used in conjunction with testing for urine organic acids, liver function, alpha-fetoprotein, and...
SBULB - Overview: Spinobulbar Muscular Atrophy (Kennedy Disease), Molecular Analysis, Varies
Molecular confirmation of clinically suspected cases of sporadic or familial spinobulbar muscular atrophy (SBMA) Presymptomatic testing for individuals with a family history of SBMA and a documented expansion in the androgen receptor (AR)...
T4BPE - Overview: Thyroxine-Binding Protein Electrophoresis, Serum
Explaining unusual thyroxine (T4), free T4, and thyroxine-binding globulin test results that do not correlate with the patient's clinical presentation Detecting the presence of aberrant thyroxine-binding proteins, such as abnormal forms...
WEEP - Overview: Western Equine Encephalitis Antibody, IgG and IgM, Serum
Aiding the diagnosis of Western equine encephalitis using serum specimens
ALBFL - Overview: Albumin, Body Fluid
Aiding in identifying the cause of ascites Aiding in differentiating exudative and transudative pleural effusions
Diagnosing syphilis
AFP - Overview: Alpha-Fetoprotein (AFP) Tumor Marker, Serum
Follow-up management of patients undergoing cancer therapy, especially for testicular and ovarian tumors and for hepatocellular carcinoma Often used in conjunction with human chorionic gonadotropin.(2) This test is not recommended as a...
HL58R - Overview: HLA-B*5801 Genotype, Allopurinol Hypersensitivity, Varies
Identifying individuals with an increased risk of severe cutaneous adverse reactions to allopurinol based on the presence of the human leukocyte antigen HLA-B*58:01 allele
T4FT4 - Overview: T4 (Thyroxine), Total and Free, Serum
Assessing thyroid function when thyroid function disorders are suspected
EMAIG - Overview: Endomysial Antibodies, IgG, Serum
Analysis of IgG-endomysial antibodies for the diagnosis of dermatitis herpetiformis and celiac disease Monitoring adherence to gluten-free diet in patients with dermatitis herpetiformis and celiac disease
PKU - Overview: Phenylalanine and Tyrosine, Plasma
Monitoring effectiveness of dietary therapy in patients with hyperphenylalaninemia
AIAES - Overview: Axonal Neuropathy, Autoimmune/Paraneoplastic Evaluation, Serum
Evaluation of patients who present with a subacute neurological disorder of undetermined etiology, especially those with known risk factors for cancer Directing a focused search for cancer Investigating neurological symptoms that appear...
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...
HLHGP - Overview: Primary Hemophagocytic Lymphohistiocytosis Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of familial hemophagocytic lymphohistiocytosis (F-HLH) Establishing a diagnosis of F-HLH, allowing for appropriate management and...
RTQPC - Overview: Abnormal Prion Protein, Real-Time Quaking Induced Conversion, Spinal Fluid
Aiding in diagnosing sporadic Creutzfeldt-Jakob disease or other prion disease in patients with a rapidly progressive dementia
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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 - ';, ,/�'L ,j,<'.) -e >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...