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Test Catalog

TCP - Overview: T-Cell Subsets, Naive, Memory, and Activated, Blood

Determining the presence of naive, memory, and activated T cells in various clinical contexts including autoimmune diseases, immunodeficiency states, T-cell recovery post-hematopoietic stem cell transplant, DiGeorge syndrome, and as a...

VIRID - Overview: Viral Susceptibility, Defects in Intrinsic and Innate Immunity, Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inborn error of immunity causing a hereditary form of severe viral susceptibility Establishing a diagnosis of hereditary form of...

GALZ - Overview: Galactosemia, GALT Gene, Full Gene Analysis, Varies

Identifying variants in individuals who test negative for the common variants and who have a biochemical diagnosis of galactosemia or galactose-1-phosphate uridyltransferase activity levels indicative of carrier status

FXS - Overview: Fragile X Syndrome, Molecular Analysis, Varies

Confirming a diagnosis of fragile X syndrome, fragile X tremor/ataxia syndrome, or premature ovarian insufficiency caused by expansions in the FMR1 gene Determining carrier status for individuals with a family history of fragile X...

IMSNP - Overview: Inherited Motor and Sensory Neuropathy Gene Panel, Varies

Establishing a molecular diagnosis for patients with hereditary motor and sensory neuropathy (HMSN) or Charcot-Marie-Tooth (CMT) disease Identifying variants within genes known to be associated with HMSN or CMT disease, allowing for...

PGXQP - Overview: Focused Pharmacogenomics Panel, Varies

Preemptive or reactive genotyping of patients for pharmacogenomic purposes Providing an assessment for genes with strong drug-gene associations Assisting in the management of patients with complex medication regimens

BABPB - Overview: Babesia species, Molecular Detection, PCR, Blood

Initial screening or confirmatory testing for suspected babesiosis during the acute febrile stage of infection in patients from endemic areas, especially when Giemsa-stained peripheral blood smears do not reveal any organisms, or the...

ASMW - Overview: Acid Sphingomyelinase, Leukocytes

Investigation of possible diagnosis of Niemann-Pick disease types A and B This test is not recommended for carrier detection because of the wide range of enzymatic activities observed in carriers and noncarriers.

ASOU - Overview: Arsenic Occupational Exposure, Random, Urine

Screening test for detection of occupational exposure to arsenic in random urine specimens

ALDNA - Overview: Aldosterone with Sodium, 24 Hour, Urine

Investigating primary aldosteronism (eg, adrenal adenoma/carcinoma and adrenal cortical hyperplasia) and secondary aldosteronism (eg, renovascular disease, salt depletion, potassium loading, cardiac failure with ascites, pregnancy, Bartter...

ATTF - Overview: Antithrombin Activity, Plasma

Diagnosis of antithrombin deficiency, acquired or congenital Monitoring treatment of antithrombin deficiency disorders, including infusion of antithrombin therapeutic concentrate

AH50 - Overview: Alternative Complement Pathway, Functional, Serum

Investigation of suspected alternative pathway complement deficiency, atypical hemolytic uremic syndrome, C3 glomerulonephritis, and dense-deposit disease

WAGDR - Overview: Alpha Globin Cluster Locus Deletion/Duplication, Blood

Diagnosis of alpha-thalassemia Carrier screening for individuals from high-risk populations for alpha-thalassemia This test is not useful for diagnosis or confirmation of beta-thalassemia or hemoglobinopathies.

AN1TS - Overview: Antineuronal Nuclear Antibody-Type 1 (ANNA-1) Titer, Serum

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...

CARU - Overview: Cyclic Adenosine Monophosphate (cAMP), Urinary Excretion, Serum and Urine

Differential diagnosis of hypercalcemia As an adjunct to serum parathyroid hormone measurements, especially in the diagnosis of parathyroid hormone resistance states, such as pseudohypoparathyroidism

EAG - Overview: Hepatitis B Virus e Antigen, Serum

Determining the presence or absence of detectable hepatitis B virus e antigen in monitoring infection status of individuals with chronic hepatitis B Determining infectivity of hepatitis B virus (HBV) carriers Monitoring serologic...

JAKXB - Overview: JAK2 Exon 12 and Other Non-V617F Mutation Detection, Blood

Second-order testing to aid in the distinction between a reactive cytosis and a myeloproliferative neoplasm, particularly when a diagnosis of polycythemia is being considered, using blood specimens

HSVC - Overview: Herpes Simplex Virus (HSV), Molecular Detection, PCR, Spinal Fluid

Aiding in the rapid diagnosis of herpes simplex virus (HSV)-1 and HSV-2 infections of the central nervous system

HPP12 - Overview: HIV-1/HIV-2 RNA Detection Prenatal, Plasma

Diagnosis of HIV-1 and/or HIV-2 infection in pregnant individuals with indeterminate or inconclusive HIV serologic test results Diagnosis of HIV-1 and/or HIV-2 infection in pregnant individuals in the acute or early phase of HIV-1 and/or...

HPS12 - Overview: HIV-1/HIV-2 RNA Detection Prenatal, Serum

Diagnosis of HIV-1 and/or HIV-2 infection in pregnant individuals with indeterminate or inconclusive HIV serologic test results Diagnosis of HIV-1 and/or HIV-2 infection in pregnant individuals in the acute or early phase of HIV-1 and/or...

PBGDW - Overview: Porphobilinogen Deaminase, Washed Erythrocytes

Confirmation of a diagnosis of acute intermittent porphyria using washed erythrocyte specimens

RISAP - Overview: Risankizumab Quantitation with Antibodies, Serum

Evaluation of patients with limited primary (initial) response to or secondary loss of response to risankizumab

E157C - Overview: Escherichia coli O157:H7 Culture, Feces

Determining whether Escherichia coli O157:H7 may be the cause of diarrhea Reflexive testing for Shiga toxin and/or E coli O157:H7 nucleic acid amplification test-positive feces This test is generally not useful for patients hospitalized...

CMVQN - Overview: Cytomegalovirus (CMV) DNA Detection and Quantification by Real-Time PCR, Plasma

Detection and quantification of cytomegalovirus (CMV) viremia Monitoring CMV disease progression and response to antiviral therapy

CHF8 - Overview: Chromogenic Factor VIII Activity Assay, Plasma

Monitoring coagulation factor replacement therapy of selected extended half-life coagulation factor replacements Aiding in the diagnosis of hemophilia A using a 2-stage assay, especially when the 1-stage assay result was normal

ENTP - Overview: Enterovirus, Molecular Detection, PCR, Plasma

Aiding in diagnosing enterovirus infections using plasma specimens This test should not be used to screen asymptomatic patients.

11INE - Overview: Factor XI Inhibitor Evaluation, Plasma

Detection and quantitation of inhibitor to coagulation factor XI This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a nonspecific circulating anticoagulant, or other inhibitors that are not...

5INHE - Overview: Factor V Inhibitor Evaluation, Plasma

Detection and quantitation of inhibitors against coagulation factor V This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a nonspecific circulating anticoagulant, or other inhibitors that are not...

10INE - Overview: Factor X Inhibitor Evaluation, Plasma

Detection and quantitation of inhibitor to coagulation factor X This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a nonspecific circulating anticoagulant, or other inhibitors that are not...

7INHE - Overview: Factor VII Inhibitor Evaluation, Plasma

Detection and quantitation of inhibitor to coagulation factor VII This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a nonspecific circulating anticoagulant, or other inhibitors that are not...

FFRBS - Overview: Friedreich Ataxia, Frataxin, Quantitative, Blood Spot

Diagnosing individuals with Friedreich ataxia in blood spot specimens Monitoring frataxin levels in patients with Friedreich ataxia This test is not useful for carrier detection.

FRTUP - Overview: Free Thyroxine Index (FTI), Serum

Estimating the amount of circulating free thyroxine (free thyroxine index) using the total thyroxine and thyroid binding capacity (T-uptake)

FACT - Overview: Filamentous-Actin (F-actin) Antibody, IgG, Serum

Evaluation of patients with hepatitis of unknown origin associated with hypergammaglobulinemia and/or abnormal liver enzymes This test may also be useful for confirming positivity for smooth muscle antibodies.

MPS4W - Overview: Mucopolysaccharidosis IV Enzyme Panel, Leukocytes

Supporting the biochemical diagnosis of mucopolysaccharidosis type IVA and IVB in whole blood specimens This test is not useful for carrier detection.

T4 - Overview: T4 (Thyroxine), Total Only, Serum

Monitoring treatment with synthetic hormones (synthetic T3 [triiodothyronine] will cause a low total T4 [thyroxine]) Monitoring treatment of hyperthyroidism with thiouracil and other anti-thyroid drugs Index of thyroid function when the...

THYRO - Overview: Thyrotropin Receptor Antibody, Serum

Recommended first-line test for detection of thyrotropin receptor antibodies Differential diagnosis of etiology of thyrotoxicosis in patients with ambiguous clinical findings and/or contraindicated (eg, pregnant or breast-feeding) or...

CRUZI - Overview: Trypanosoma cruzi (Chagas) Antibody Panel, Serum

Diagnosis of chronic Trypanosoma cruzi infection (Chagas disease) using two different methods

CTX - Overview: Beta-CrossLaps, Serum

Monitoring antiresorptive therapies (eg, bisphosphonates and hormone replacement therapy) in postmenopausal women treated for osteoporosis and individuals diagnosed with osteopenia An adjunct in the diagnosis of medical conditions...

WNVS - Overview: West Nile Virus, RNA, PCR, Molecular Detection, Serum

Rapid testing for West Nile virus (WNV) RNA (lineage 1 and lineage 2) using serum specimens An adjunctive test to serology for detection of early WNV infection (ie, first few days after symptom onset) This test should not be used for...

WNCSF - Overview: West Nile Virus, RNA, PCR, Molecular Detection, Spinal Fluid

Rapid testing for West Nile virus (WNV) RNA (lineage 1 and lineage 2) using cerebrospinal fluid specimens An adjunctive test to serology for detection of early WNV infection (ie, first few days after symptom onset) This assay should not...

WNVBL - Overview: West Nile Virus, RNA, PCR, Molecular Detection, Blood

Rapid testing for West Nile virus (WNV) RNA (lineage 1 and lineage 2) An adjunctive test to serology for detection of early WNV infection (ie, first few days after symptom onset), with blood specimens potentially providing a greater...

WNVUR - Overview: West Nile Virus, RNA, PCR, Molecular Detection, Random, Urine

Rapid testing for West Nile virus (WNV) RNA (lineage 1 and lineage 2) An adjunctive test to serology for detection of early WNV infection (ie, first few days after symptom onset), with urine specimens potentially retaining WNV RNA longer...

KRASP - Overview: KRAS Somatic Mutation Analysis, Tumor

Detecting molecular markers associated with response or resistance to specific cancer therapies

23BPT - Overview: 2,3-Dinor 11 Beta-Prostaglandin F2 Alpha, 24 Hour, Urine

Screening for mast cell activation disorders including systemic mastocytosis using 24-hour urine specimens

VWFMS - Overview: von Willebrand Factor Multimer Analysis, Plasma

Resolving discrepancies when results of complementary laboratory tests (eg, F8A / Coagulation Factor VIII Activity Assay, Plasma; VWACT / von Willebrand Factor Activity, Plasma; and VWAG / von Willebrand Factor Antigen, Plasma) are...

VITAE - Overview: Vitamin A and Vitamin E, Serum

Diagnosing vitamin A deficiency and toxicity Evaluating persons with intestinal malabsorption of lipids Monitoring of Vitamin E supplementation/treatment

CSTB - Overview: CSTB Gene, Repeat Expansion Analysis, Varies

Molecular confirmation of clinically suspected CSTB-related progressive myoclonic epilepsy Identifying full penetrance dodecamer repeat expansions within CSTB known to cause CSTB-related progressive myoclonic epilepsy, allowing for...

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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....