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Test Catalog
APHTS - Overview: Amphiphysin Antibody Titer Assay, Serum
Evaluating patients with recent onset of a subacute neurological disorder for which a paraneoplastic basis might be suspected, particularly if the patient has a previous history, risk factors, or family history of cancer, especially lung or...
APHTC - Overview: Amphiphysin Antibody Titer Assay, Spinal Fluid
Evaluating patients with recent onset of a subacute neurological disorder for which a paraneoplastic basis might be suspected, particularly if the patient has a previous history, risk factors, or family history of cancer, especially lung or...
CTSK - Overview: Cathepsin K Immunostain, Technical Component Only
Evaluation for perivascular epithelioid cell neoplasms (PEComas), alveolar soft part sarcoma, and translocation-associated renal cell carcinomas
HK27M - Overview: Histone H3 K27M Mutant (H3 K27M) Immunostain, Technical Component Only
Identifying the presence of altered H3 K27M protein
IL5P - Overview: Interleukin 5, Plasma
Evaluation of patients with disorders known to be associated with hypereosinophilia
GATA3 - Overview: GATA Binding Protein 3 Immunostain, Technical Component Only
Characterizing carcinomas, including primary bladder and breast carcinomas, and some types of mesenchymal and neuroectodermal tumors
GDS - Overview: Gadolinium, Serum
Aiding in documenting previous exposure to gadolinium-based contrast agents using serum specimens
HCQ - Overview: Hydroxychloroquine, Serum
Monitoring serum hydroxychloroquine concentrations, assessing compliance, and adjusting dosage in patients
GD65S - Overview: Glutamic Acid Decarboxylase (GAD65) Antibody Assay, Serum
Assessing susceptibility to autoimmune (type 1, insulin-dependent) diabetes mellitus and related endocrine disorders (eg, thyroiditis and pernicious anemia) Distinguishing between patients with type 1 and type 2 diabetes Confirming a...
GATAB - Overview: GATA-Binding Protein 3 Immunostain, Technical Component Only, Bone Marrow,
Characterizing carcinomas, including primary bladder and breast carcinomas, and some types of mesenchymal and neuroectodermal tumors
Identification of neural epidermal growth factor-like 1 (NELL-1) protein primary membranous nephropathy
PCTTC - Overview: Purkinje Cell Cytoplasmic Antibody, Type Tr (PCA-Tr) Titer, Spinal Fluid
Serological testing for Purkinje cell cytoplasmic antibody-Tr for patients with acquired cerebellar ataxia of undetermined etiology, particularly if the patient has a history of Hodgkin lymphoma Reporting an end titer result from spinal...
RIVAR - Overview: Rivaroxaban, Anti-Xa, Plasma
Measuring rivaroxaban concentration in selected clinical situations (eg, kidney insufficiency, assessment of compliance, periprocedural measurement of drug concentration, suspected overdose, advanced age, and extremes of body weight)
PHTDP - Overview: Phosphorylated TDP43 Immunostain, Technical Component Only
Identification of pathological forms of TDP-43 in neurodegenerative diseases
IHCFH - Overview: Fumarate Hydratase Immunostain, Technical Component Only
Identifying fumarate hydratase-deficient neoplasms Supporting the diagnosis of an atypical smooth muscle tumor over leiomyosarcoma
Reporting an end titer result in spinal fluid specimens Distinguishing, in spinal fluid, autoimmune GFAP astrocytopathy from infectious meningoencephalitis and idiopathic inflammatory central nervous system (CNS) disorders such as multiple...
Reporting an end titer result in serum specimens Distinguishing autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy from infectious meningoencephalitis and idiopathic inflammatory central nervous system (CNS) disorders such as...
FUFXS - Overview: Fragile X, Follow-up Analysis
Confirming the methylation status of the repeat expansion allele in the FMR1 gene, to aid the diagnosis of FMR1-related disorders
MINT - Overview: Molecular Interpretation
Interpretation of the hereditary erythrocytosis profile
SOX11 - Overview: SOX11 Immunostain, Technical Component Only
Identification of mantle cell lymphomas
2SC - Overview: S-(2-Succinyl)-Cysteine (2SC) Immunostain, Technical Component Only
Identification of high levels of aberrant S-(2-succino)-cysteine (2SC), secondary to pathogenic alterations of the fumarate hydratase (FH) gene
ALKOT - Overview: Anaplastic Lymphoma Kinase (ALK [OTI1A4]) Immunostain, Technical Component Only
Identification of anaplastic lymphoma kinase expression Diagnosis of inflammatory myofibroblastic tumor and anaplastic large cell lymphoma
HEXAZ - Overview: Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies
Second-tier test for confirming a biochemical diagnosis of Tay-Sachs disease (TSD) Carrier testing of individuals with a family history of TSD but an affected individual is not available for testing or disease-causing mutations have not...
AAMSD - Overview: Amino Acids, Maple Syrup Urine Disease Panel, Plasma
Follow-up of patients with maple syrup urine disease Monitoring of dietary compliance for patients with maple syrup urine disease
MAC1 - Overview: Myelopathy, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid
Evaluating patients with suspected autoimmune myelopathy, myelitis, and paraneoplastic myelopathy using spinal fluid specimens
CMAMT - Overview: Chromosomal Microarray, Autopsy/Products of Conception/Stillbirth, Tissue
Diagnosis of congenital copy number changes in products of conception, including aneuploidy (ie, trisomy or monosomy) and structural abnormalities Diagnosing chromosomal causes for fetal death Determining recurrence risk of future...
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...
Screening cadaveric or hemolyzed serum specimens for hepatitis C virus (HCV) infection in asymptomatic individuals with or without risk factors for HCV infection Note: In accordance with National Coverage Determination guidance, this test...
Evaluation of patients with an abnormal newborn screen showing elevations of glutarylcarnitine (C5-DC) using dried blood spot specimens Evaluation of patients with abnormal newborn screens showing elevations of C4-acylcarnitine to aid in...
METF - Overview: MET (7q31), FISH, Tissue
Providing prognostic information and guiding treatment primarily for patients with lung, gastric, and colorectal tumors as well as other tumor types
Diagnosis of a neuromyelitis optica spectrum disorder (NMOSD) Diagnosis of autoimmune AQP4 channelopathy Distinguishing NMOSD from multiple sclerosis early in the course of disease
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...
LCAF - Overview: Lung Cancer, ALK (2p23) Rearrangement, FISH, Tissue
Identifying patients with non-small cell lung carcinoma who may benefit from treatment with directed tyrosine kinase inhibitors
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
UBA1Q - Overview: UBA1 Mutation Quantitative Detection, VEXAS syndrome, Droplet Digital PCR, Varies
Identification of pathogenic variant(s) in the UBA1 gene in patients presenting with symptoms concerning for or consistent with VEXAS syndrome
ENAE - Overview: Antibody to Extractable Nuclear Antigen Evaluation, Serum
Evaluating patients with clinical features suggestive of antinuclear antibody (ANA) associated connective tissue disease. May also be indicated in patients who test negative for ANA and have features of Sjogren syndrome and idiopathic...
AGAW - Overview: Alpha-Galactosidase, Leukocytes
Diagnosis of Fabry disease in male patients Verifying abnormal serum alpha-galactosidase results in male patients with a clinical presentation suggestive of Fabry disease This test is not useful for patients undergoing a work-up for a...
THYRP - Overview: Hereditary Thyroid Cancer Panel, Varies
Evaluating patients with a personal or family history suggestive of a hereditary thyroid cancer syndrome Establishing a diagnosis of a hereditary thyroid cancer syndrome, allowing for targeted surveillance based on associated...
H2BR - Overview: HER2 Amplification Associated with Breast Cancer, FISH, Tissue
A predictive marker for patients with both node-positive or node-negative primary and metastatic breast cancer Patients with HER2 amplification that may be candidates for therapies targeting the human epidermal growth factor receptor 2...
RETZZ - Overview: Multiple Endocrine Neoplasia Type 2 Syndrome, RET, Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of a multiple endocrine neoplasia type 2 (MEN2) or Hirschsprung disease (HSCR) Establishing a diagnosis of MEN2 or HSCR allowing for targeted cancer surveillance based on...
TBBS - Overview: Quantitative Lymphocyte Subsets: T, B, and Natural Killer (NK) Cells, Blood
Serial monitoring of CD4 T-cell count in patients who are HIV-positive Follow-up and diagnostic evaluation of primary immunodeficiencies, including severe combined immunodeficiency Immune monitoring following immunosuppressive therapy...
As part of the diagnosis and workup of precocious and delayed puberty in females and, to a lesser degree, males As part of the diagnosis and workup of suspected disorders of sex steroid metabolism (eg, aromatase deficiency and 17...
MCLNM - Overview: MayoComplete Lung Cancer Mutations, Next-Generation Sequencing, Tumor
Diagnosis and management of patients with lung cancer Assessing microsatellite instability
TTST - Overview: Testosterone, Total, Mass Spectrometry, Serum
Evaluating men with symptoms or signs of possible hypogonadism, such as loss of libido, erectile dysfunction, gynecomastia, osteoporosis, or infertility Evaluating boys with delayed or precocious puberty Monitoring testosterone...
BRBPS - Overview: Broad Range Bacterial PCR and Sequencing, Varies
Detecting and identifying bacteria (including mycobacteria) from normally sterile sources, including synovial fluid; body fluids such as pleural, peritoneal, and pericardial fluids, cerebrospinal fluid; and both fresh and formalin-fixed...
PNEFC - Overview: Neuroimmunology Antibody Follow-up, Spinal Fluid
Monitoring patients who have previously tested positive for 1 or more antibodies within the past 5 years in a Mayo Clinic Neuroimmunology Laboratory spinal fluid evaluation
Providing a genetic evaluation for patients with a personal or family history suggestive of atypical hemolytic uremic syndrome (aHUS), thrombotic microangiopathy (TMA), or complement 3 glomerulopathy (C3G) Establishing a diagnosis of...
CDSP - Overview: Celiac Disease Serology Cascade, Serum
Evaluating patients suspected of having celiac disease, including patients with compatible symptoms, patients with atypical symptoms, and individuals at increased risk (family history, previous diagnosis with associated disease, positivity...
TTBS - Overview: Testosterone, Total and Bioavailable, Serum
Recommended second-level test for suspected increases or decreases in physiologically active testosterone: -Assessment of androgen status in cases with suspected or known sex hormone-binding globulin binding abnormalities -Assessment of...
UCDP - Overview: Urea Cycle Disorders Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of a urea cycle disorder (UCD) Establishing a molecular diagnosis for patients with a UCD Identifying variants within genes known to be associated with UCD, allowing for predictive...
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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.
search - Mayo Clinic Laboratories
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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....