CD10 - Overview: CD10 Immunostain, Technical Component Only
Phenotyping leukemias and lymphomas
EBNA2 - Overview: Epstein Barr Nuclear Antigen 2 (EBNA2) Immunostain, Technical Component Only
Identification of Epstein Barr virus infection in normal, inflammatory, and neoplastic tissues
EDN - Overview: Eosinophil Derived Neurotoxin, Serum
Evaluating patients suspected to have a condition associated with eosinophilia or hypereosinophilia Evaluating patients with elevated peripheral blood eosinophil counts Managing patients with elevated eosinophil-derived neurotoxin in the...
GLYP3 - Overview: Glypican-3 Immunostain, Technical Component Only
Differentiating hepatocellular carcinomas from other malignancies and hepatic adenomas
MELAN - Overview: Melan A (MART-1) Immunostain, Technical Component Only
Aids in the identification of melanoma
Diagnosing adult T-cell leukemia/lymphoma
MYPO - Overview: Myeloperoxidase (MPO) Immunostain, Technical Component Only
A marker of myeloid lineage
CHOU - Overview: Carbohydrate, Urine
Screening for conditions associated with increased excretion of carbohydrates, including inborn errors of fructose and galactose metabolism. This test is not recommended as a follow up test for abnormal newborn screening for galactosemia.
TICU - Overview: Titanium/Creatinine Ratio, Urine
Measurement of titanium concentration as part of a profile to assess exposure and elimination of titanium
DNJB9 - Overview: DNAJB9 Immunostain, Technical Component Only
Diagnosis of fibrillary glomerulonephritis
TRK - Overview: Tropomyosin Receptor Kinase (TRK) Immunostain, Technical Component Only
Helpful in the screening for neurotrophic tyrosine receptor kinase (NTRK) rearranged tumors
NAGR - Overview: Hexosaminidase A and Total, Leukocytes/Molecular Reflex, Whole Blood
Carrier detection and diagnosis of Tay-Sachs disease Carrier detection and diagnosis of Sandhoff disease
HIESG - Overview: Hyper-IgE Syndrome Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of hyper-IgE syndrome (HIES) Establishing a diagnosis of HIES, allowing for appropriate management and surveillance for disease features...
CRCGP - Overview: Hereditary Gastrointestinal Cancer Panel, Varies
Evaluating patients with a personal or family history suggestive of a hereditary gastrointestinal cancer or hereditary polyposis syndrome Establishing a diagnosis of a hereditary gastrointestinal cancer syndrome or hereditary polyposis...
Detection of high-risk (HR) genotypes associated with the development of cervical cancer Aids in triaging women with abnormal Pap smear results Individual genotyping of human papillomavirus (HPV)-16 and/or HPV-18 if present Results of...
LYNCP - Overview: Lynch Syndrome Panel, Varies
Establishing a diagnosis of Lynch syndrome or constitutional mismatch repair deficiency allowing for targeted cancer surveillance based on associated risks Identifying MLH1, MSH2, MSH6, PMS2, or EPCAM variants to allow for predictive...
MCSRC - Overview: MayoComplete Comprehensive Sarcoma Panel, Next-Generation Sequencing, Tumor
Primarily for identifying mutations that help in the diagnosis of specific soft tissue and bone tumors (sarcoma) Secondarily for identifying mutations that have therapeutic or prognostic significance Assessing microsatellite instability...
GNANT - Overview: Antithrombin Deficiency, SERPINC1 Gene, Next-Generation Sequencing, Varies
Evaluating antithrombin AT deficiency in patients with a personal or family history suggestive of this hereditary thrombophilia Confirming an AT deficiency diagnosis with the identification of a known or suspected disease-causing...
CCMGG - Overview: Comprehensive Cardiomyopathy Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of cardiomyopathy Establishing a diagnosis of a hereditary form of cardiomyopathy
CRTS1 - Overview: Creatinine with Estimated Glomerular Filtration Rate (eGFR), Serum
Diagnosing and monitoring treatment of acute and chronic kidney diseases Adjusting dosage of renally excreted medications Monitoring kidney transplant recipients Estimating glomerular filtration rate for people with chronic kidney...
G6PD1 - Overview: Glucose 6-Phosphate Dehydrogenase Enzyme Activity, Blood
Evaluation of individuals with episodic or chronic Coombs-negative nonspherocytic hemolytic anemia Rapid testing to assess glucose 6-phosphate dehydrogenase (G6PD) enzyme capacity prior to rasburicase or other therapies that may cause...
WARSQ - Overview: Warfarin Response Genotype, Varies
Identifying patients who may require warfarin dosing adjustments(3,4) including: -Patients being started on a first prescription for warfarin -Patients who have previously been prescribed warfarin and have required multiple dosing...
LSDS - Overview: Lysosomal Disorders Screen, Random, Urine
Screening patients suspected of having a lysosomal disorder
MPSBS - Overview: Mucopolysaccharidosis, Blood Spot
Supporting the biochemical diagnosis of mucopolysaccharidoses types I, II, III, IV, or VI Quantification of heparan sulfate, dermatan sulfate, and keratan sulfate in dried blood spot specimens
BLWX - Overview: Walnut-Food Components, IgE, Serum
Evaluation of patients with suspected walnut-food allergy to one of 2 walnut-food components
2HGA - Overview: 2-Hydroxyglutaric Acid Chiral Analysis, Quantitative, Random, Urine
Determining type of 2-hydroxyglutaric aciduria by chiral analysis of urine
GAAZ - Overview: Pompe Disease, Full Gene Analysis, Varies
Confirmation of diagnosis of Pompe disease (as a follow-up to biochemical analyses)
PD2T - Overview: Pompe Disease Second-Tier Newborn Screening, Blood Spot
Second-tier testing of newborns with an abnormal primary screening result for Pompe disease (decreased acid alpha-glucosidase enzyme activity) Follow-up testing for evaluation of an abnormal newborn screening result for Pompe disease
RAPAN - Overview: Rheumatoid Arthritis Panel, Serum
Evaluating patients suspected of having rheumatoid arthritis (RA) Differentiating RA from other inflammatory arthritis or connective tissue diseases Diagnosis and stratification of rheumatoid arthritis
MPS2Z - Overview: Hunter Syndrome, Full Gene Analysis, Varies
Confirmation of a diagnosis of mucopolysaccharidosis type II (Hunter syndrome) Carrier testing when there is a family history of mucopolysaccharidosis type II (Hunter syndrome), but disease-causing variants have not been previously...
F8INV - Overview: Hemophilia A F8 Gene, Intron 1 and 22 Inversion Mutation Analysis, Whole Blood
First-tier molecular testing for male patients affected with severe hemophilia A when a variant has not been identified in the family Determining hemophilia A carrier status for at-risk female patients, ie, individuals with a family...
F81B - Overview: Hemophilia A F8 Gene, Intron 1 Inversion Known Mutation, Whole Blood
First-tier molecular testing for male patients affected with severe hemophilia A, when a familial intron 1 inversion has been previously identified Determining hemophilia A carrier status for at-risk female patients, ie, individuals with...
PBORB - Overview: Lyme Disease, Molecular Detection, PCR, Blood
Supporting the diagnosis of Lyme disease in conjunction with serologic testing This test should not be used to screen asymptomatic patients.
LMPP - Overview: Lipoprotein Metabolism Profile, Serum
Diagnosing dyslipoproteinemia Quantifying cholesterol and triglycerides in very-low-density lipoprotein, low-density lipoprotein (LDL), high-density lipoproteins (HDL), and chylomicrons Identifying lipoprotein-X Classifying...
BTK - Overview: Bruton Tyrosine Kinase, Protein Expression, Flow Cytometry, Blood
Preliminary screening for X-linked agammaglobulinemia, primarily in male patients (<65 years) or female carriers (child-bearing age: <45 years)
Evaluating patients with chronic myelogenous leukemia and Philadelphia chromosome positive B-cell acute lymphoblastic leukemia receiving tyrosine kinase inhibitor (TKI) therapy, who are apparently failing treatment Preferred initial test...
BRAZR - Overview: Brazil Nut, IgE with Reflex to Brazil Nut Component, IgE, Serum
Evaluation of patients with suspected Brazil nut allergy
MSH2 - Overview: MSH2 Immunostain, Technical Component Only
Identifying patients at high risk for having hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome, in an immunopanel including MSH2 and other mismatch repair markers Evaluation of tumor tissue to identify patients at...
MCMRU - Overview: Mast Cell Mediators, Random, Urine
Evaluating patients at risk for mast cell activation syndrome (eg, systemic mastocytosis) using random urine collections
CASHR - Overview: Cashew, IgE with Reflex to Cashew Component, IgE, Serum
Evaluation of patients with suspected cashew allergy
9AINH - Overview: Factor IX Inhibitor Profile, Professional Interpretation
Interpretation for the detection and titering of coagulation inhibitor to the specific factor requested, primarily factor IX in patients with hemophilia B
AHLP - Overview: AudioloGene Hearing Loss Panel, Varies
Establishing a diagnosis of a syndromic or nonsyndromic hereditary hearing loss disorder Identifying variants within genes known to be associated with hereditary hearing loss, allowing for predictive testing of at-risk family members
LDAI - Overview: Progentec aiSLE DX Lupus Disease Activity Index, Plasma
Aiding in the assessment of current systemic lupus erythematosus disease activity when used in conjunction with standard clinical assessment
PRL - Overview: Prolactin, Serum
Aiding in evaluation of pituitary tumors, amenorrhea, galactorrhea, infertility, and hypogonadism Monitoring therapy of prolactin-producing tumors
PIK3T - Overview: PIK3CA Mutation Analysis, Tumor
Identification of hormone receptor positive and human epidermal growth factor receptor 2 negative (HR+/HER2-) advanced breast cancer tumors that may be eligible for treatment with targeted kinase inhibitor therapy (eg, alpelisib).
PBGU - Overview: Porphobilinogen, Quantitative, Random, Urine
First-order test for evaluating a suspected acute porphyria: acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria
PC2TC - Overview: Purkinje Cell Cytoplasmic Antibody Type 2 (PCA-2) Titer, Spinal Fluid
Evaluating patients who present with a subacute neurological disorder of undetermined etiology and have risk factors for lung cancer Reporting an end titer result from spinal fluid specimens
PC1TC - Overview: Purkinje Cell Cytoplasmic Antibody Type 1 (PCA-1) Titer, Spinal Fluid
Identifying female patients whose subacute cerebellar degeneration or peripheral neuropathy is due to a remote (autoimmune) effect of gynecologic or breast carcinoma Reporting an end titer result from spinal fluid specimens
PPFE - Overview: Protoporphyrins, Fractionation, Whole Blood
Evaluating patients with possible diagnoses of erythropoietic protoporphyria or X-linked dominant protoporphyria Establishing a biochemical diagnosis of erythropoietic protoporphyria and X-linked dominant protoporphyria
VRERP - Overview: Vancomycin-Resistant Enterococcus, Molecular Detection, PCR, Varies
Identifying carriers of vancomycin-resistant enterococci
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....