RISAP - Overview: Risankizumab Quantitation with Antibodies, Serum
Evaluation of patients with limited primary (initial) response to or secondary loss of response to risankizumab
SHIGC - Overview: Shigella Culture, Feces
Determining whether Shigella species may be the cause of diarrhea Reflexive testing for Shigella species from nucleic acid amplification test-positive stool This test is generally not useful for patients hospitalized more than 3 days...
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...
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
COWB - Overview: Cobalt, Blood
Monitoring exposure to cobalt using whole blood specimens Monitoring metallic prosthetic implant wear This test is not useful for assessment of vitamin B12 activity.
SFIG - Overview: Cerebrospinal Fluid IgG Index Profile, Serum and Spinal Fluid
Aiding in the diagnosis of multiple sclerosis and other central nervous system inflammatory conditions
DHTS - Overview: Dihydrotestosterone, Serum
Monitoring patients receiving 5-alpha reductase inhibitor therapy or chemotherapy Evaluating patients with possible 5-alpha reductase deficiency
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...
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 /...
PBGDW - Overview: Porphobilinogen Deaminase, Washed Erythrocytes
Confirmation of a diagnosis of acute intermittent porphyria using washed erythrocyte specimens
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.
ASCU - Overview: Arsenic/Creatinine Ratio, Urine
Screening for arsenic exposure using random urine specimens
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...
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
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...
GNPLT - Overview: Platelet Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies
Evaluating hereditary platelet disorders in patients with a personal or family history suggestive of a hereditary platelet disorder Diagnosing hereditary platelet disorders for patients in whom phenotypic testing is nondiagnostic, but...
AMLPF - Overview: Acute Myeloid Leukemia (AML), FISH, Pediatric, Varies
This test should not be used to screen for residual acute myeloid leukemia (AML). Useful at diagnosis for detecting recurrent common chromosome abnormalities in pediatric patients with AML An adjunct to chromosome studies in patients with...
BLBLF - Overview: B-Cell Lymphoblastic Leukemia/Lymphoma, FISH, Tissue
Detecting, at diagnosis, recurrent common chromosome abnormalities associated with B-cell acute lymphoblastic leukemia/lymphoma (B-ALL/LBL) and Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL) in paraffin-embedded...
OIBFG - Overview: Osteogenesis Imperfecta and Bone Fragility Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive osteogenesis imperfecta and other hereditary conditions associated with bone fragility
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...
Evaluation of pediatric bone marrow and peripheral blood specimens by fluorescence in situ hybridization (FISH) probe analysis for classic rearrangements and chromosomal copy number changes associated with acute myeloid leukemia (AML) in...
BLPMF - Overview: B-Cell Lymphoma, Specified FISH, Varies
Detecting, at diagnosis, common chromosome abnormalities associated with specific B-cell lymphoma subtypes using client specified FISH probes
MPSQU - Overview: Mucopolysaccharides Quantitative, Random, Urine
Supporting the biochemical diagnosis of one of the mucopolysaccharidoses: types I, II, III, IV, VI, or VII
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...
ORXNA - Overview: Orexin-A/Hypocretin-1, Spinal Fluid
Aiding in the diagnosis and differentiation of type 1 narcolepsy from other causes of hypersomnolence This assay is not intended for use as a screening test.
PUPYP - Overview: Purines and Pyrimidines Panel, Plasma
Evaluating patients with symptoms suspicious for disorders of purine and pyrimidine metabolism Monitoring patients with disorders of purine and pyrimidine metabolism Laboratory evaluation of primary and secondary hyperuricemias Assessing...
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...
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
URRP - Overview: Ureaplasma species, Molecular Detection, PCR, Varies
Rapid, sensitive, and specific identification of Ureaplasma urealyticum and Ureaplasma parvum from genitourinary, reproductive, bone, spine, joint, and lower respiratory sources This test is not intended for medicolegal use.
3A5Q - Overview: Cytochrome P450 3A5 Genotype, Varies
Aids in optimizing treatment with tacrolimus and other drugs metabolized by cytochrome P450 3A5
TPMT3 - Overview: Thiopurine Methyltransferase Activity Profile, Erythrocytes
Detection of individuals with low thiopurine methyltransferase (TPMT) activity who are at risk for excessive myelosuppression or severe hematopoietic toxicity when taking thiopurine drugs Detection of individuals with hyperactive TPMT...
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...
HEAG - Overview: Hepatitis B Virus e Antigen and Hepatitis B Virus e Antibody, Serum
Determining the presence or absence of detectable hepatitis B virus e antigen and antibody in monitoring infection status of individuals with chronic hepatitis B Determining infectivity of hepatitis B virus (HBV) carriers Monitoring...
HIP12 - Overview: HIV-1/HIV-2 RNA Detection, Plasma
Diagnosis of HIV-1 and/or HIV-2 infection in individuals with indeterminate or inconclusive HIV serologic test results Diagnosis of HIV-1 and/or HIV-2 infection in individuals with acute or early HIV-1 and/or HIV-2 infection Diagnosis of...
HIS12 - Overview: HIV-1/HIV-2 RNA Detection, Serum
Diagnosis of HIV-1 and/or HIV-2 infection in individuals with indeterminate or inconclusive HIV serologic test results Diagnosis of HIV-1 and/or HIV-2 infection in individuals with acute or early HIV-1 and/or HIV-2 infection Diagnosis...
HEVQU - Overview: Hepatitis E Virus RNA Detection and Quantification, Real-Time RT-PCR, Serum
Virologic detection and confirmation of hepatitis E virus (HEV) infection in individuals who are immunocompromised and are at risk for or suspected to have acute or chronic hepatitis E Monitoring HEV RNA levels and determining eradication...
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
ALGAL - Overview: Galactose-Alpha-1,3-Galactose (Alpha-Gal), IgE, Serum
As an aid in diagnosis of an IgE mediated hypersensitivity allergy to non-primate mammalian red meat, such as beef, pork, venison, and meat-derived products (eg, gelatin) This test is not useful in patients previously treated with...
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...
ATTF - Overview: Antithrombin Activity, Plasma
Diagnosis of antithrombin deficiency, acquired or congenital Monitoring treatment of antithrombin deficiency disorders, including infusion of antithrombin therapeutic concentrate
WBGDR - Overview: Beta-Globin Gene Cluster Deletion/Duplication, Blood
Determining the etiology of hereditary persistence of fetal hemoglobin (HPFH), delta-beta thalassemia, or other large deletions involving the beta-globin gene cluster Diagnosing less common causes of beta-thalassemia; these large...
BNP - Overview: B-Type Natriuretic Peptide, Plasma
Aiding in the diagnosis of congestive heart failure (CHF) The role of B-type natriuretic peptide in monitoring CHF therapy is under investigation.
MSDBS - Overview: Multiple Sulfatase Deficiency, Blood Spot
Supporting the biochemical diagnosis of multiple sulfatase deficiency This test is not useful for carrier detection.
POXA1 - Overview: Oxalate, Plasma
Assessing the body pool size of oxalate in patients with enzyme deficiencies, such as primary hyperoxaluria (PH), or patients with enteric hyperoxaluria Aiding in the diagnosis of PH in a patient with chronic kidney disease of...
STFRP - Overview: Shiga Toxin, Molecular Detection, PCR, Feces
Sensitive, specific, and rapid detection of the presence of Shiga toxin-producing organisms such as Escherichia coli O157:H7 and Shigella dysenteriae type 1 in stool This test is not recommended as a test of cure.
PBNP1 - Overview: NT-Pro B-Type Natriuretic Peptide, Serum
Aiding in the diagnosis of congestive heart failure using serum specimens
CRUZI - Overview: Trypanosoma cruzi (Chagas) Antibody Panel, Serum
Diagnosis of chronic Trypanosoma cruzi infection (Chagas disease) using two different methods
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....