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Test Catalog

RFPN - Overview: Rheumatoid Factor Panel, Serum

Evaluating patients at-risk of rheumatoid arthritis (RA) or features of inflammatory arthritis Differentiating the antibody isotype profile in patients positive for rheumatoid factor (RF) Aid in the risk stratification of RF-seropositive...

TRECS - Overview: T-Cell Receptor Excision Circles Analysis, Blood

Measuring T-cell output or reconstitution (thymopoiesis) following hematopoietic cell transplantation or highly active antiretroviral therapy Evaluating thymic function in patients with cellular or combined inborn errors of immunity...

ECMP - Overview: Eculizumab Monitoring Panel, Serum

Monitoring of complement blockage by eculizumab Assessing the response to eculizumab therapy Assessing the need for dose escalation Evaluating the potential for dose de-escalation or discontinuation of therapy in remission...

SSAB - Overview: SS-A and SS-B Antibodies, IgG, Serum

Evaluating patients with signs and symptoms of a connective tissue disease in whom the test for antinuclear antibodies is positive, especially those with signs and symptoms consistent with Sjogren syndrome or lupus erythematosus This test...

MSMRD - Overview: Myeloma Stratification and Risk-Adapted Therapy with Reflex to Minimal Residual Disease, Bone Marrow

Risk stratification of patients with treated multiple myeloma, which can assist in determining treatment and management decisions Risk stratification of patients with newly diagnosed multiple myeloma

MSMRT - Overview: Mayo Algorithmic Approach for Stratification of Myeloma and Risk-Adapted Therapy Report, Bone Marrow

Risk stratification of patients with treated multiple myeloma, which can assist in determining treatment and management decisions Risk stratification of patients with newly diagnosed multiple myeloma

CMA - Overview: Centromere Antibodies, IgG, Serum

Evaluating patients with features of systemic autoimmune rheumatic disease, particularly systemic sclerosis, Sjogren's syndrome, or overlap disease Aiding in the phenotypic stratification of patients with systemic sclerosis (limited...

HSMP - Overview: Hepatosplenomegaly Panel, Plasma

As a component to the initial evaluation of a patient presenting with hepatosplenomegaly, using plasma specimens This test is not useful for the identification of carriers. This test should not be used as a monitoring tool for patients...

TALDO - Overview: Polyols, Quantitative, Urine

Diagnosing deficiencies of transaldolase, transketolase, sedoheptulose, or ribose-5-phosphate isomerase

COVSQ - Overview: Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2), Spike Antibody, Semi-Quantitative, Serum

Aiding in the identification of individuals with an adaptive immune response to SARS-CoV-2, indicating prior infection or vaccination

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.

APOLB - Overview: Apolipoprotein B, Serum

Assessment of cardiovascular risk Follow-up studies in individuals with basic lipid measures inconsistent with risk factors or clinical presentation Definitive studies of cardiac risk factors in individuals with significant family...

C2NAD - Overview: PrecivityAD, Plasma

Assisting in the evaluation of adult patients, aged 55 years and older, with signs or symptoms of mild cognitive impairment or dementia who are being assessed for Alzheimer disease and other causes of cognitive decline This is not intended...

RAVU - Overview: Ravulizumab, Serum

Assessing the response to ravulizumab therapy Assessing the need for dose escalation Evaluating the potential for dose deescalation or discontinuation of therapy in remission states Monitoring patients who need to be above a certain...

RLTE4 - Overview: Leukotriene E4, Random, Urine

Aiding in the evaluation of patients at-risk for mast cell activation syndrome (eg, systemic mastocytosis, IgE-mediated allergies, or aspirin-exacerbated respiratory disease) using random urine collections

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

HSMWB - Overview: Hepatosplenomegaly Panel, Blood

As a component of the initial evaluation of a patient presenting with hepatosplenomegaly This test is not useful for the identification of carriers. This test should not be used as a monitoring for patients with confirmed diagnoses.

NAIFA - Overview: Antinuclear Antibodies, HEp-2 Substrate, IgG, Serum

Evaluation of patients suspected of having systemic autoimmune rheumatic disease (ANA-associated rheumatic diseases or connective tissue disease) or organ-specific autoimmune diseases such as autoimmune liver diseases

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...

T821Q - Overview: RUNX1-RUNX1T1 Translocation (8;21), Minimal Residual Disease Monitoring, Quantitative, Varies

Detection of RUNX1-RUNX1T1 gene fusion in acute myeloid leukemia patients at the time of diagnosis Minimal residual disease monitoring during the clinical and therapeutic course of these patients

FOBT - Overview: Fecal Occult Blood, Colorectal Cancer Screen, Qualitative, Immunochemical, Feces

Colorectal cancer screening Screening for gastrointestinal bleeding This test has not been validated for testing of patients with hemoglobinopathies.

LAD1 - Overview: Leukocyte Adhesion Deficiency Type 1, CD11a/CD18 and CD11b/CD18 Complex Immunophenotyping, Blood

Aiding in the diagnosis of leukocyte adhesion deficiency syndrome type 1, primarily in patients younger than 18 years CD11a, CD11b, and CD18 phenotyping

IN16Q - Overview: CBFB::MYH11 Inversion(16), Quantitative Detection and Minimal Disease Risk Monitoring, qRT-PCR, Varies

Detection of CBFB::MYH11 gene fusion in patients recently diagnosed with acute myeloid leukemia (AML) Minimal residual disease monitoring during the clinical and therapeutic course of patients with AML

ENDCP - Overview: Hereditary Endocrine Cancer Panel, Varies

Evaluating patients with a personal or family history suggestive of a hereditary endocrine tumor syndrome Establishing a diagnosis of a hereditary endocrine tumor syndrome, allowing for targeted surveillance based on associated risks...

CSPCF - Overview: Plasma Cell Proliferative Disorder, Pre-Analysis Cell Sorting, Bone Marrow

Aiding in the diagnosis of new cases of multiple myeloma or other plasma cell proliferative disorders Sorting plasma cells for fluorescence in situ hybridization analysis

JAKXR - Overview: JAK2 Exon 12-15 Sequencing, Polycythemia Vera Reflex, Varies

Aiding in the distinction between the myeloproliferative neoplasm polycythemia vera (PV) and other secondary erythrocytosis Evaluating for mutations within exons 12 to 15 of JAK2 in an algorithmic process as part of PVJAK / Polycythemia...

QMPSS - Overview: Monoclonal Protein Study, Quantitative, Serum

Aiding in the diagnosis and monitoring of monoclonal gammopathies, when used in conjunction with free light chain studies This test alone is not considered an adequate screen for monoclonal gammopathies.

MNDP - Overview: Inherited Motor Neuron Disease Gene Panel, Varies

Establishing a molecular diagnosis for patients with motor neuron disease Identifying variants within genes known to be associated with motor neuron disease, allowing for predictive testing of at-risk family members

TREGS - Overview: T-Cell Subsets, Regulatory (Tregs), Blood

Evaluating patients with clinical features of IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked inheritance) and other primary immunodeficiencies, autoimmune diseases, allergy and asthma, and graft-vs-host disease...

TLTE4 - Overview: Leukotriene E4, 24 Hour, Urine

Aiding in the evaluation of patients at-risk for mast cell activation syndrome (eg, systemic mastocytosis, IgE-mediated allergies, or aspirin-exacerbated respiratory disease) using 24-hour urine collections

CPAVP - Overview: Copeptin proAVP, Plasma

Investigating the differential diagnosis for patients with water balance disorders, including diabetes insipidus, in conjunction with osmolality and hydration status May aid in the evaluation of cardiovascular disease in conjunction with...

STER - Overview: Sterols, Plasma

Investigation of possible desmosterolosis (desmosterol reductase deficiency), cerebrotendinous xanthomatosis, lathosterolosis, sitosterolemia, sterol C4 methyl oxidase deficiency, MEND (male EBP disorder with neurologic defects) syndrome,...

HSMBS - Overview: Hepatosplenomegaly Panel, Blood Spot

As a component of the initial evaluation of a patient presenting with hepatosplenomegaly, using dried blood spot specimens This test is not useful for the identification of carriers. This test should not be used as a monitoring tool for...

PHD2 - Overview: Prolyl Hydroxylase Domain-2 (PHD2/EGLN1) Gene Sequencing, Whole Blood

Assessing PHD2/EGLN1 in the evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit

HIF2A - Overview: Hypoxia-Inducible Factor Alpha (EPAS1/HIF2A) Gene, Exons 9 and 12 Sequencing, Whole Blood

Assessing HIF2A/EPAS1 in the evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit

PIPU - Overview: Pipecolic Acid, Random, Urine

Differentiating between disorders of peroxisomal biogenesis (eg, Zellweger syndrome) and disorders with loss of a single peroxisomal function Detecting abnormal elevations of pipecolic acid in urine

VMAR - Overview: Vanillylmandelic Acid, Random, Urine

Screening children for catecholamine-secreting tumors using a random urine collection when requesting vanillylmandelic acid only Supporting a diagnosis of neuroblastoma Monitoring patients with a treated neuroblastoma

PIPA - Overview: Pipecolic Acid, Serum

Differentiating between disorders of peroxisomal biogenesis (eg, Zellweger syndrome) and disorders with loss of a single peroxisomal function Detecting abnormal elevations of pipecolic acid in serum

CXCFX - Overview: MYD88 Reflex to CXCR4 Mutation Detection, Varies

The prognosis and clinical management of lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia

CAORG - Overview: Comprehensive Marfan, Loeys-Dietz, Ehlers-Danlos, and Aortopathy Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary aortic disease Establishing a diagnosis for a variety of hereditary conditions involving aortic disease or overlapping clinical...

DICET - Overview: DICER1 Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the DICER1 gene to assist in tumor diagnosis/classification

ESR1T - Overview: ESR1 Mutation Analysis, Next-Generation Sequencing, Tumor

Assisting in the clinical management of patients with metastatic breast cancer by identifying tumors with evolving resistance to endocrine therapy Stratifying prognosis of metastatic breast cancer

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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....