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Test Catalog
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...
TALDO - Overview: Polyols, Quantitative, Urine
Diagnosing deficiencies of transaldolase, transketolase, sedoheptulose, or ribose-5-phosphate isomerase
SFX - Overview: Protein S Activity, Plasma
Second-order testing for diagnosis of congenital or acquired protein S deficiency, ie, as an adjunct to initial testing based on results of protein S antigen assay (free protein S antigen, with or without total protein S antigen assay)...
DENGM - Overview: Dengue Virus Antibody, IgG and IgM, Serum
Aiding in the diagnosis of dengue virus infection
FGEN - Overview: Fungal Culture, Routine
Diagnosing fungal infections from specimens other than blood, skin, hair, nails, and vagina (separate tests are available for these specimen sites)
GPSYW - Overview: Glucopsychosine, Blood
Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified Diagnosis and monitoring of patients with Gaucher disease using whole blood specimens Supporting the biochemical diagnosis of...
MRSAP - Overview: Methicillin Resistant Staphylococcus aureus, PCR, Nasal
Rapid screening test for Staphylococcus aureus nasal carriage that, if positive, indicates whether the S aureus is methicillin susceptible or resistant This test should not be used to guide or monitor treatment for methicillin-resistant S...
MYCO - Overview: Mycoplasma pneumoniae Antibodies, IgG and IgM, Serum
Screening for recent or past exposure to Mycoplasma pneumoniae This test should not be used as a screening procedure for the general population.
Supporting the diagnosis of low-grade fibromyxoid sarcoma when used in conjunction with an anatomic pathology consultation
SGTF - Overview: MYB (6q23) Rearrangement FISH, Tissue
Assessing for MYB gene rearrangements in patients with primary salivary gland carcinoma to aid in confirming or excluding the diagnosis of primary salivary gland adenoid cystic carcinomas
TVRNA - Overview: Trichomonas vaginalis, Nucleic Acid Amplification, Varies
Detecting Trichomonas vaginalis in urine, cervical/endocervical or vaginal specimen types
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...
Aiding in the identification of individuals with an adaptive immune response to SARS-CoV-2, indicating prior infection or vaccination
VZVPV - Overview: Varicella-Zoster Virus, Molecular Detection, PCR, Varies
Rapid (qualitative) detection of varicella-zoster virus DNA in clinical specimens for laboratory diagnosis of disease due to this virus This test should not be used to screen asymptomatic patients.
TGAB - Overview: Thyroglobulin Antibody, Serum
As an adjunct in the diagnosis of autoimmune thyroid diseases: Hashimoto disease, postpartum thyroiditis, neonatal hypothyroidism, and Graves disease
AVWPI - Overview: von Willebrand Disease Profile Technical Interpretation
Technical interpretation of the von Willebrand factor profile test Detection of deficiency or abnormality of von Willebrand factor and related deficiency of factor VIII coagulant activity Subtyping von Willebrand disease (VWD) as type 1...
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
MMPP - Overview: Mitochondrial Metabolites, Plasma
Monitoring patients with mitochondrial disorders, organic acidurias, and ketone body disorders
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.
BAIPD - Overview: Bile Acids for Peroxisomal Disorders, Serum
Biomarker for peroxisomal biogenesis disorders, such as Zellweger spectrum disorder and single enzyme defects of bile acid synthesis, including D-bifunctional protein deficiency and alpha methyl CoA racemases Monitoring patients receiving...
RPR18 - Overview: Respiratory Profile, Region 18, Alaska, Serum
Assessing sensitization to various inhalant allergens commonly found in Alaska Defining the allergen responsible for eliciting signs and symptoms Identifying allergens: -Responsible for allergic response or anaphylactic episode -To...
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...
EOIBD - Overview: Early Onset Monogenic Inflammatory Bowel Disease (IBD) Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited inflammatory bowel disorder Establishing a diagnosis of a monogenic early onset inflammatory bowel disease, allowing...
MAS1 - Overview: Myelopathy, Autoimmune/Paraneoplastic Evaluation, Serum
Evaluating patients with suspected autoimmune myelopathy, myelitis, and paraneoplastic myelopathy using serum specimens
APGH - Overview: Alpha-Subunit Pituitary Tumor Marker, Serum
Adjunct in the diagnosis of pituitary tumors As part of the follow-up of treated pituitary tumor patients Differential diagnosis of thyrotropin-secreting pituitary tumor versus thyroid hormone resistance Differential diagnosis of...
CASHR - Overview: Cashew, IgE with Reflex to Cashew Component, IgE, Serum
Evaluation of patients with suspected cashew allergy
P53CA - Overview: Hematologic Neoplasms, TP53 Somatic Mutation, DNA Sequencing Exons 4-9, Varies
Evaluating chronic lymphocytic leukemia patients at diagnosis or during disease course for the presence of TP53 gene variants indicating high risk of disease progression and adverse outcomes This test is not intended for the evaluation of...
GPSY - Overview: Glucopsychosine, Blood Spot
Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified Diagnosis and monitoring of patients with Gaucher disease using dried blood spot specimens Monitoring a patient's response to...
Confirmatory detection of human T-cell lymphotropic virus types I and II (HTLV-I and HTLV-II)-specific IgG antibodies in human serum specimens that are consistently reactive by initial screening tests Differentiating between HTLV-I- and...
MCADZ - Overview: Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency Full Gene Analysis, Varies
Confirmation of diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (as a follow-up to biochemical analyses) Screening of at-risk carriers of MCAD deficiency when an affected relative has not had molecular testing Diagnosis...
Diagnosis of a neuromyelitis optica spectrum disorder (NMOSD) Diagnosis of autoimmune AQP4 channelopathy Distinguishing NMOSD from multiple sclerosis early in the course of disease
PMPDD - Overview: PMP22 Gene, Large Deletion/Duplication Analysis, Varies
Diagnosis of Charcot-Marie-Tooth type 1A or hereditary neuropathy with liability to pressure palsies
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...
PD2T - Overview: Pompe Disease Second-Tier Newborn Screening, Blood Spot
Second-tier testing of newborns with an abnormal primary screening result for Pompe disease (decreased acid alpha-glucosidase enzyme activity) Follow-up testing for evaluation of an abnormal newborn screening result for Pompe disease
RPDEI - Overview: Rapidly Progressive Dementia Evaluation Interpretation, Spinal Fluid
Interpretation of the Rapidly Progressive Dementia Evaluation
PCMSP - Overview: Postmortem Inherited Congenital Myasthenia Syndrome Gene Panel, Tissue
Identifying variants within genes known to be associated with congenital myasthenic syndrome, allowing for predictive testing of at-risk family members Providing a comprehensive postmortem genetic evaluation in the setting of a congenital...
EPO - Overview: Erythropoietin, Serum
An aid in distinguishing between primary and secondary polycythemia Differentiating between appropriate secondary polycythemia (eg, high-altitude living, pulmonary disease, tobacco use) and inappropriate secondary polycythemia (eg,...
EHBAP - Overview: Ehrlichia/Babesia Antibody Panel, Immunofluorescence, Serum
As an adjunct in the diagnosis of infection with Anaplasma phagocytophilum, Ehrlichia chaffeensis, or Babesia microti Seroepidemiological surveys of the prevalence of the infection in certain populations
CELI - Overview: Celiac Associated HLA-DQ Alpha 1 and DQ Beta 1 DNA Typing, Blood
Assessing risk of celiac disease
FGF1F - Overview: FGFR1 (8p11.2) Amplification, FISH, Tissue
Providing prognostic information and guiding treatment primarily for patients with squamous cell carcinoma of the lung, breast, esophagus, thymus, and other locations
XL2T - Overview: FOXL2 Mutation Analysis, Next-Generation Sequencing, Tumor
Assisting in the clinical diagnosis of adult granulosa cell tumor by assessing gene targets with in the FOXL2 gene
MSH6 - Overview: MSH6 Immunostain, Technical Component Only
Identifying patients at high risk for having hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome, in an immunopanel including MSH6 and other mismatch repair markers Evaluation of tumor tissue to identify patients at...
MAMLF - Overview: MAML2 (11q21) Rearrangement, Mucoepidermoid Carcinoma (MEC), FISH, Tissue
Supporting the diagnosis of mucoepidermoid carcinoma when used in conjunction with an anatomic pathology consultation
TP53 - Overview: TP53 Mutation Analysis, Next-Generation Sequencing, Tumor
Assisting in the clinical management of patients with cancer This test is not intended for the evaluation of patients suspected of having an inherited or germline TP53 cancer syndrome (eg, Li Fraumeni syndrome).
SCAP - Overview: Spinocerebellar Ataxia Repeat Expansion Panel, Varies
Molecular confirmation of clinically suspected spinocerebellar ataxia when a specific subtype isn't suspected
THSCM - Overview: Thyroid Function Cascade, Serum
Screening for a diagnosis of thyroid disease
OHPG - Overview: 17-Hydroxyprogesterone, Serum
Screening test for congenital adrenal hyperplasia (CAH), caused by either 11- or 21-hydroxylase deficiency, when used in combination with testing for cortisol and androstenedione As part of a battery of tests to evaluate women with...
ALKT - Overview: ALK Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying mutations within the ALK gene that predict resistance to ALK-inhibitors
2C9QT - Overview: Cytochrome P450 2C9 Genotype, Varies
Identifying individuals who may be at risk for altered metabolism of drugs that are modified by cytochrome P450 2C9
2C19R - Overview: Cytochrome P450 2C19 Genotype, Varies
Identifying patients who may be at risk for altered metabolism of drugs that are modified by cytochrome P450 2C19 Predicting anticoagulation response to clopidogrel
Site Search
Information: Interpreting Laboratory Tests to Determine New vs. Residual Use of Marijuana - Insights
In this month's "Hot Topic," Paul Jannetto, Ph.D., identifies how to determine new vs. residual use of marijuana in a patient, and teaches how to calculate the carboxy-tetrahydrocannabinol (carboxy-THC)...
Laboratory and Pathology Research Roundup: March 12 - Insights
known. We performed laser microdissection (LCM) of glomeruli followed by mass spectrometry (MS) in 12 cases each of DDD, C3GN, and pretransplant kidney control biopsies....
COVID-19: At-home sample collection vs. at-home testing - Insights
The concept of at-home testing for COVID-19 sounds straightforward. But there's nuance to it that's important to understand. Right now, an at-home test for COVID-19 is not available, although there may be one coming soon. But in some areas,...
Transfusion Toons: A1 vs. A2 - Insights
Justin Kreuter, M.D., Clinical Pathologist and Medical Director of the Mayo Clinic Blood Donor Center in Rochester, Minnesota, and Theresa Malin, an Education Specialist in Transfusion Medicine at Mayo Clinic, have launched “Transfusion...
Clinic Laboratory and Pathology Research Roundup: Nov. 12 - Insights
This week’s Research Roundup highlights a mechanism for preventing asymmetric histone segregation onto replicating DNA strands.