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Test Catalog

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...

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

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...

VHPV - Overview: Human Papillomavirus (HPV) Vaginal Detection with Genotyping for High-Risk Types by PCR

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...

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

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)

BAKDM - Overview: BCR/ABL1, Tyrosine Kinase Inhibitor Resistance, Kinase Domain Mutation Screen, Sanger Sequencing, Varies

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...

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

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

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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....