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Test Catalog
CHAGL - Overview: Trypanosoma cruzi IgG, Lateral Flow Assay, Serum
Diagnosis of chronic Trypanosoma cruzi infection (Chagas disease)
VIBC - Overview: Vibrio Culture, Feces
Determining whether Vibrio species may be the cause of diarrhea This test is generally not useful for patients that have been hospitalized for more than 3 days because the yield from these patients' specimens is very low, as is the...
FUROC - Overview: UroVysion for Detection of Bladder Cancer, Urine
Monitoring for tumor recurrence in patients with a history of urothelial carcinoma involving the bladder or upper urinary tract Assessing patients with hematuria for urothelial carcinoma
KIDST - Overview: Kidney Stone Analysis
Managing patients with recurrent renal calculi (kidney stones)
VITB3 - Overview: Vitamin B3 and Metabolites, Plasma
Assisting in the diagnosis of suspected vitamin B3 deficiency or toxicity May be useful in determining response to therapy
BAP - Overview: Bone Alkaline Phosphatase, Serum
Diagnosis and assessment of severity of metabolic bone disease including Paget disease, osteomalacia, and other states of high bone turnover Monitoring efficacy of antiresorptive therapies including postmenopausal osteoporosis treatment...
Investigation of suspected folate deficiency
GUS - Overview: Guselkumab, Serum
Assessing the response to guselkumab therapy Assessing the need for dose escalation Evaluating the potential for dose de-escalation or discontinuation of therapy Monitoring patients who need to be above a certain guselkumab...
BLAST - Overview: Blastomyces Antibody, Enzyme Immunoassay, Serum
Aiding in the diagnosis of blastomycosis
LGBBS - Overview: Globotriaosylsphingosine, Blood Spot
Screening of patients with Fabry disease using dried blood spots when a serum specimen is not available This test should not be used for newborn screening followup.
IGE - Overview: Immunoglobulin E (IgE), Serum
Evaluating patients with suspected diseases associated with elevations in total IgE, including allergic disease, primary immunodeficiencies, infections, malignancies, or other inflammatory diseases Diagnostic evaluation of patients with...
BCELL - Overview: B-Cell and Antibody Deficiency Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited primary B-cell disorder or humoral immunodeficiency Establishing a diagnosis of a primary B-cell disorder or humoral...
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...
CMMPP - Overview: Cobalamin, Methionine, and Methylmalonic Acid Pathways, Plasma
Screening and monitoring patients suspected of or confirmed with an inherited disorder of methionine, cobalamin, or propionate metabolism using plasma specimens Evaluating individuals with suspected deficiency of vitamin B12
CMMPS - Overview: Cobalamin, Methionine, and Methylmalonic Acid Pathways, Serum
Screening and monitoring patients suspected of or confirmed with an inherited disorder of methionine, cobalamin, or propionate metabolism using serum specimens Evaluating individuals with suspected deficiency of vitamin B12
IEICP - Overview: Inborn Errors of Immunity Comprehensive Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal history of an inborn error of immunity (IEI) Establishing a diagnosis of an IEI associated with known causal genes Identifying variants within genes known to be...
IGFB3 - Overview: Insulin-Like Growth Factor-Binding Protein 3, Serum
Diagnosing growth disorders Diagnosing adult growth hormone deficiency Monitoring of recombinant human growth hormone treatment As a possible adjunct to insulin-like growth factor 1 and growth hormone in the diagnosis and follow-up of...
HIVDI - Overview: HIV-1 and HIV-2 Antibody Confirmation and Differentiation, Serum
Confirmation and differentiation of HIV-1 and HIV-2 antibodies in serum specimens that show reactive results with third-(HIV-1/-2 antibody only) and 4th-generation (HIV antigen and antibody) HIV serologic assays Confirmation and...
Detecting a neoplastic clone associated with Philadelphia chromosome-like acute lymphoblastic leukemia (ALL), particularly when a classic abnormality is not detected with the initial panel An adjunct to conventional chromosome studies in...
NENZ - Overview: Red Blood Cell Enzyme Disorders Gene Panel, Next-Generation Sequencing, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an underlying red blood cell enzymopathy Identifying variants within genes associated with phenotypic severity, allowing for...
CACMG - Overview: Comprehensive Arrhythmia and Cardiomyopathy Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of either a cardiomyopathy or cardiac arrhythmia Establishing a diagnosis of a hereditary form of either a cardiomyopathy or...
CRCL - Overview: Creatinine Clearance, Serum and 24-Hour Urine
Estimation of glomerular filtration rate
Providing a genetic evaluation for patients with a personal or family history of steroid resistant nephrotic syndrome (SRNS) Establishing a diagnosis of hereditary SRNS Guiding treatment decisions in individuals with nephrotic syndrome
VHLZZ - Overview: Von Hippel Lindau Syndrome, VHL, Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of Von Hippel-Lindau (VHL) syndrome Establishing a diagnosis of a VHL allowing for targeted cancer surveillance based on associated risks Identifying genetic variants...
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of dilated cardiomyopathy or left ventricular noncompaction Establishing a diagnosis of a hereditary form dilated cardiomyopathy...
HMEP - Overview: Hemiplegic Migraine With or Without Epilepsy Gene Panel, Varies
Establishing a molecular diagnosis in individuals with hemiplegic migraine Identifying disease-causing variants within genes known to be associated with hemiplegic migraine, allowing for predictive testing of at-risk family members
STICK - Overview: Tick-Borne Antibodies, Modified 2-Tier, ELISA, Serum
Evaluation of the most common tick-borne diseases found in the United States, including Lyme disease, human monocytic and granulocytic ehrlichiosis, and babesiosis using the modified 2-tier testing algorithm approach Evaluation of patients...
GNHTC - Overview: Hereditary Thrombocytopenia Gene Panel, Next-Generation Sequencing, Varies
Evaluating hereditary thrombocytopenia disorders in patients with a personal or family history suggestive of a hereditary thrombocytopenia disorder Diagnosing hereditary thrombocytopenia disorders for patients in whom phenotypic testing is...
GNMTC - Overview: Macro/Microthrombocytopenia Gene Panel, Next-Generation Sequencing, Varies
Evaluating hereditary macro- or microthrombocytopenia disorders in patients with a personal or family history suggestive of a hereditary macro- or microthrombocytopenia disorder Diagnosing hereditary macro- or microthrombocytopenia...
TALPF - Overview: T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), FISH, Pediatric, Varies
Detecting, at diagnosis, recurrent common chromosome abnormalities associated with T-cell acute lymphoblastic leukemia/lymphoma (T-ALL) in pediatric/young adult patients As an adjunct to conventional chromosome studies in pediatric/young...
GNVWD - Overview: von Willebrand Disease, VWF and GP1BA Genes, Next-Generation Sequencing, Varies
Evaluating von Willebrand disease and platelet-type von Willebrand disease in patients with a personal or family history suggestive of von Willebrand disease Confirming von Willebrand disease or platelet-type von Willebrand disease...
CARGG - Overview: Comprehensive Arrhythmia Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of cardiac arrhythmia Establishing a diagnosis of a hereditary form of cardiac arrhythmia
Diagnostic workup of patients with a high probability of BCR-ABL1-positive hematopoietic neoplasms, particularly chronic myeloid leukemia and Ph+ acute lymphoblastic leukemia (B-lymphoblastic leukemia), to provide a pretreatment...
A1APP - Overview: Alpha-1-Antitrypsin Phenotype, Serum
Identification of homozygous and heterozygous phenotypes of the alpha-1-antitrypsin deficiency
GUSBB - Overview: Beta-Glucuronidase, Blood Spot
Supporting the biochemical diagnosis of mucopolysaccharidosis VII (MPS VII, Sly syndrome) This test is not useful for determining carrier status for MPS VII.
BPAB - Overview: Bullous Pemphigoid, BP180 and BP230, IgG Antibodies, Serum
Initial screening test in the diagnosis of bullous pemphigoid and its variants Complementing the standard serum test of indirect immunofluorescence utilizing primate esophagus substrate and primate salt-split skin substrate (CIFS /...
ALUCR - Overview: Aluminum/Creatinine Ratio, Random, Urine
Monitoring aluminum exposure when a 24-hour urine cannot be collected Monitoring metallic prosthetic implant wear when a 24-hour urine cannot be collected This test is not an acceptable substitute for serum aluminum measurements and is...
AN3TC - Overview: Antineuronal Nuclear Antibody Type 3 (ANNA-3) Titer, Spinal Fluid
Evaluating patients who present with a subacute neurological disorder of undetermined etiology and have risk factors for primary lung carcinoma Reporting an end titer result from cerebrospinal fluid specimens
AN1TC - Overview: Antineuronal Nuclear Antibody-Type 1 (ANNA-1) Titer, Spinal Fluid
Diagnosis of paraneoplastic autoimmune neuropathies, encephalomyeloradiculopathies, related neurologic disorders, and intestinal pseudo-obstruction/dysmotility associated with small-cell lung carcinoma Reporting an end titer result from...
AN3TS - Overview: Antineuronal Nuclear Antibody Type 3 (ANNA-3) Titer, Serum
Evaluating patients who present with a subacute neurological disorder of undetermined etiology and have risk factors for primary lung carcinoma Reporting an end titer result from serum specimens
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.
CAMPC - Overview: Campylobacter Culture, Feces
Determining whether Campylobacter species may be the cause of diarrhea Reflexive testing for Campylobacter species from nucleic acid amplification test-positive feces This test is generally not useful for patients hospitalized more than...
HEAB - Overview: Hepatitis B Virus e Antibody, Serum
Determining the presence or absence of detectable hepatitis B virus e antibody in monitoring infection status of individuals with chronic hepatitis B Determining infectivity of hepatitis B virus (HBV) carriers Monitoring serologic...
I2SWB - Overview: Iduronate-2-Sulfatase, Leukocytes
Supporting the biochemical diagnosis of mucopolysaccharidosis II (MPS II; Hunter syndrome) in whole blood specimens This test is not useful for carrier detection for MPS II.
IGAS - Overview: IgA Subclasses, Serum
Investigation of immune deficiency due to IgA2 deficiency Evaluating patients with anaphylactic transfusion reactions
Detecting cobalt toxicity Monitoring metallic prosthetic implant wear This test is not useful for assessment of vitamin B12 activity.
CMAFF - Overview: Chromosomal Microarray (CMA) Familial Testing, FISH
Determining the inheritance pattern of copy number changes previously identified by chromosomal microarray analysis in a patient and aiding in the clinical interpretation of the pathogenicity of the copy number change
BRAFB - Overview: Cell-Free DNA BRAF V600, Blood
An alternative to invasive tissue biopsies for the determination of BRAF V600E and V600K alterations Identification of patients with cancer who are most likely to benefit from targeted therapies This test is not intended for serial...
CRBF - Overview: Creatinine, Body Fluid
Identifying the presence of urine as a cause for accumulation of fluid in a body compartment Measuring the ultrafiltration capacity of the peritoneal membrane in patients receiving peritoneal dialysis
CYPAN - Overview: Cytokine Panel, Plasma
Understanding the etiology of infectious or chronic inflammatory diseases, when used in conjunction with clinical information and other laboratory testing Research studies in which an assessment of cytokine responses is needed
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helps in diagnosis, treatment, and prognosis of ALS and MS - Insights
neurofilament light chain (Nfl) proteins in blood, clinicians can better diagnose devastating diseases like ALS and MS, help predict disease progression, and better assess efficacy of existing drugs and trial therapies...
Frontotemporal dementia and ALS - Insights
Learn more about how detection of amyotrophic lateral sclerosis and frontotemporal dementia paved the way for gene-targeted therapies for patients.
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1939: Lou Gehrig Comes to Mayo Clinic #ThrowbackThursday - Insights
June 1939, his name became associated with an illness called amyotrophic lateral sclerosis (ALS). Today, ALS is known as Lou Gehrig’s Disease....
Hereditary Alzheimer's disease and dementia - Insights
Learn about our genetic testing for Alzheimer’s disease, amyotrophic lateral sclerosis (ALS), frontotemporal dementia, and CADASIL....