EOIBD - Overview: Early Onset Monogenic Inflammatory Bowel Disease (IBD) Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited inflammatory bowel disorder Establishing a diagnosis of a monogenic early onset inflammatory bowel disease, allowing for...
AUTOG - Overview: Autoinflammatory Disorders Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited autoinflammatory disorder Establishing a diagnosis of a monogenic autoinflammatory disorder, allowing for appropriate...
PSTF - Overview: Protein S Antigen, Plasma
Investigation of patients with a history of thrombosis
META3 - Overview: Metanephrines with 3-Methoxytyramine, 24 Hour, Urine
A first- and second-tier screening test for the presumptive diagnosis of catecholamine-secreting pheochromocytomas and paragangliomas
DRV1 - Overview: Dilute Russell's Viper Venom Time (DRVVT), Plasma
Detecting and confirming or helping to exclude the presence of lupus anticoagulants (LA) Identifying LA that do not prolong the activated partial thromboplastin time (APTT) Evaluating unexplained prolongation of the APTT or prothrombin...
EDSGG - Overview: Ehlers-Danlos Syndrome Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Ehlers-Danlos syndrome and related conditions Establishing a diagnosis for Ehlers-Danlos syndrome, X-linked occipital horn syndrome, X-linked...
HVPRS - Overview: HIV Antigen and Antibody Prenatal Routine Screen, Serum
Screening for HIV-1 and HIV-2 infection in nonsymptomatic pregnant patients This test should not be used as a screening or confirmatory test for blood donor specimens.
HIVSS - Overview: HIV-1 and HIV-2 Antigen and Antibody Routine Screen, Serum
Screening for HIV-1 and HIV-2 infection in nonsymptomatic, nonpregnant individuals older than 2 years This test should not be used as a screening or confirmatory test for blood donor specimens.
HIVDS - Overview: HIV-1 and HIV-2 Antigen and Antibody Diagnostic Evaluation, Serum
Detecting HIV-1 and HIV-2 infection in symptomatic patients older than 2 years Follow-up testing of symptomatic individuals with reactive rapid HIV test results This test should not be used as a screening or confirmatory test for blood...
G6PDZ - Overview: Glucose-6-Phosphate Dehydrogenase (G6PD) Full Gene Sequencing, Varies
Genetic test for individuals at high risk for glucose-6-phosphate dehydrogenase (G6PD) deficiency Aiding in the diagnosis of G6PD deficiency Determining G6PD deficiency status in individuals with inconclusive or unexpected phenotyping...
HBPES - Overview: Hepatitis B Virus Past Exposure Panel, Serum
Screening for past exposure to hepatitis B virus (HBV) Determining HBV infection and immunity status prior to initiating chemotherapy or other immunosuppressive agents
HIVSP - Overview: HIV Antigen and Antibody Prenatal Routine Screen, Plasma
Screening for HIV-1 and HIV-2 infection in nonsymptomatic pregnant patients This test should not be used as a screening or confirmatory test for blood donor specimens.
Aiding in the diagnosis of neuroinvasive Lyme disease or neuroborreliosis due to Borrelia species associated with Lyme disease (eg, Borrelia burgdorferi, Borrelia garinii, Borrelia afzelli)
LLTOT - Overview: Leukemia and Lymphoma Immunophenotyping, Technical Only, Tissue
Evaluation of tissues for potential involvement by: -Chronic lymphoproliferative disorders -Malignant lymphomas -Acute lymphoblastic leukemia -Acute myelogenous leukemia
MCGYN - Overview: MayoComplete Gynecological Cancer Panel, Next-Generation Sequencing, Tumor
Predicting patients' prognosis and response to targeted therapy Assessment of microsatellite instability for immunotherapy decisions
ATPCO - Overview: Anal ThinPrep Cytology with Human Papillomavirus (HPV) Co-Test, Varies
Detection of malignant and premalignant changes Detection of high-risk (HR) genotypes associated with the development of anal cancer Individual genotyping of human papillomavirus (HPV)-16 and HPV-18, if present May aid in triaging men...
MP8BS - Overview: Mucopolysaccharidoses, Eight-Enzyme Panel, Blood Spot
Supporting the biochemical diagnosis of mucopolysaccharidoses types II, IIIA, IIIB, IIIC, IVA, IVB, VI, and VII, and of multiple sulfatase deficiency This test is not useful for carrier detection.
TICKS - Overview: Tick-Borne Disease Antibodies Panel, Serum
Evaluation of the most common tick-borne diseases found in the United States, including Lyme disease, human monocytic and granulocytic ehrlichiosis, and babesiosis Evaluation of patients with a history of, or suspected, tick exposure who...
CASRG - Overview: CASR Full Gene Sequencing with Deletion/Duplication, Varies
Providing a genetic evaluation of individuals with a personal or family history of familial hypocalciuric hypercalcemia, neonatal severe primary hyperparathyroidism, or autosomal dominant hypoparathyroidism (autosomal dominant...
CAH21 - Overview: Congenital Adrenal Hyperplasia (CAH) Profile for 21-Hydroxylase Deficiency, Serum
Preferred screening test for congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency Part of a battery of tests to evaluate women with hirsutism or infertility, which can result from adult-onset CAH
DRV3 - Overview: Dilute Russell's Viper Venom Time (DRVVT) Confirmation, Plasma
Confirming the presence or absence of lupus anticoagulants (LA) Identifying LA that do not prolong the activated partial thromboplastin time (APTT) Evaluating unexplained prolongation of the APTT or prothrombin time clotting tests...
HYPTG - Overview: Hypertriglyceridemia Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary forms of primary hypertriglyceridemia and related conditions.
HVCOP - Overview: HIV-1 and HIV-2 Antigen and Antibody Routine Screen, Plasma
Screening for HIV-1 and HIV-2 infection in nonsymptomatic, nonpregnant individuals older than 2 years This test should not be used as a screening or confirmatory test for blood donor specimens.
RBCME - Overview: Red Blood Cell Membrane Evaluation, Blood
Investigation of suspected red cell membrane disorders, such as hereditary spherocytosis or hereditary pyropoikilocytosis This test is not useful for hereditary elliptocytosis.
Human papillomavirus (HPV) screening for average-risk, asymptomatic individuals who are eligible for primary HPV testing, have barriers to a speculum exam for a clinician-collected cervical sample for screening, and who are able to...
PGN - Overview: Pregabalin, Serum
Monitoring serum pregabalin (Lyrica) concentrations, assessing compliance, and adjusting dosage in patients
2INHT - Overview: Factor II Inhibitor Profile, Technical Interpretation
Technical interpretation of inhibitor to factor II testing 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 specific...
11INT - Overview: Factor XI Inhibitor Profile, Technical Interpretation
Technical interpretation of inhibitor to coagulation factor XI testing This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a nonspecific circulating anticoagulant, or other inhibitors that are...
MITAN - Overview: Mitotane, Plasma
Assessing compliance or making dosage adjustments for mitotane
CHIKI - Overview: Chikungunya Interpretation
Interpretation of testing that aids in the diagnosis of recent infection with Chikungunya virus in patients with recent travel to endemic areas and a compatible clinical syndrome
HGNA - Overview: Mercury, Nails
Detecting mercury exposure in nail specimens
THSIF - Overview: Thrombospondin Type 1 Domain Containing 7A (THSD7A), Immunofluorescence
Diagnosis of thrombospondin type 1 domain-containing 7A (THSD7A)-associated membranous nephropathy
Identification of breast and urinary cancer, among others
LAGGT - Overview: Granulocyte Antibodies, Serum
Work-up of individuals having febrile, nonhemolytic transfusion reactions Detection of individuals with autoimmune neutropenia This test is not useful for the diagnosis of neutropenia caused by marrow suppression by drugs or tumors.
GLUR1 - Overview: Glucose, Random, Urine
Limited usefulness for routine screening or management of diabetes mellitus
ALUPO - Overview: Lupus Anticoagulant Profile Interpretation
Interpretation of testing performed as part of a profile to confirme or exclude the presence of lupus anticoagulant (LAC), distinguishing LAC from specific coagulation factor inhibitors and nonspecific inhibitors Interpretation of testing...
ALUPI - Overview: Lupus Anticoagulant Profile, Technical Interpretation
Technical interpretation of testing to confirm or exclude the presence of lupus anticoagulant (LAC) Distinguishing LAC from specific coagulation factor inhibitors and nonspecific inhibitors Investigating a prolonged activated...
CRSBF - Overview: Crystal Identification, Body Fluid
Identifying the presence and type of crystals in body fluid
HGHAR - Overview: Mercury, Hair
Detecting mercury exposure in hair specimens
CSU - Overview: Chyluria Screen, Random, Urine
Aiding in the diagnosis of chyluria (galacturia)
EOSU1 - Overview: Eosinophils, Random, Urine
Investigation of possible acute interstitial nephritis
RUFI - Overview: Rufinamide, Serum
Monitoring serum rufinamide concentrations, assessing compliance, and adjusting dosage in patients receiving other drugs that interact pharmacokinetically with rufinamide (ie, drugs that induce liver CYP3A4 enzymes) and may be helpful in...
AMLAF - Overview: Acute Myeloid Leukemia (AML), FISH, Adult, 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 adult patients with AML An adjunct to chromosome studies in patients with...
BALMF - Overview: B-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Specified FISH, Varies
Detecting a neoplastic clone associated with 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)...
3MGAP - Overview: 3-Methylglutaconic Aciduria Panel, Varies
Follow up for abnormal biochemical results suggestive of 3-methylglutaconic aciduria (3-MGA) Establishing a molecular diagnosis for patients with 3-MGA Identifying variants within genes known to be associated with3-MGA, allowing for...
SCARA - Overview: Spinocerebellar Ataxia Type 1, 2, 3, 6, or 7, Repeat Expansion Analysis, Varies
Diagnostic or predictive testing when clinical symptoms or a family history are specific to only one type of spinocerebellar ataxia
CDG - Overview: Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation, Serum
Screening for congenital disorders of glycosylation This test is not useful for screening patients for chronic alcohol abuse.
MDYSP - Overview: Inherited Muscular Dystrophy Gene Panel, Varies
Establishing a molecular diagnosis for patients with muscular dystrophy Identifying variants within genes known to be associated with muscular dystrophy, allowing for predictive testing of at-risk family members
HIVDX - Overview: HIV-1 and HIV-2 Antigen and Antibody Diagnostic Evaluation, Plasma
Detecting HIV-1 and HIV-2 infection in symptomatic patients older than 2 years Follow-up testing of symptomatic individuals with reactive rapid HIV test results This test should not be used as a screening or confirmatory test for blood...
HEXBZ - Overview: Sandhoff Disease, HEXB Gene, Full Gene Analysis, Varies
Follow up for abnormal biochemical results suggestive of Sandhoff disease Establishing a molecular diagnosis for patients with Sandhoff disease Identifying variants within genes known to be associated with Sandhoff disease, allowing for...
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....