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Test Catalog

PYR - Overview: Pyruvic Acid, Blood

Screening for possible disorders of mitochondrial metabolism, when used in conjunction with blood lactate collected at the same time, to determine the lactate-to-pyruvate ratio

ARSBW - Overview: Arylsulfatase B, Leukocytes

Supporting the biochemical diagnosis of mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) in whole blood specimens This test is not useful for carrier detection for MPS VI.

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

FPFUZ - Overview: Phenosense Entry HIV Drug Resistance Assay

Determines phenotypic susceptibility to enfuvirtide (Fuzeon) and assesses likely effectiveness before enfuvirtide is added to a patient's regimen or before changing a regimen that includes enfuvirtide.

ALBS1 - Overview: Albumin, Serum

Assessing nutritional status Aiding in the diagnosis of multiple sclerosis when used in conjunction with serum IgG, and cerebrospinal fluid IgG and albumin concentrations

ETX - Overview: Ethosuximide, Serum

Monitoring ethosuximide therapy Determining compliance Assessing ethosuximide toxicity

LASF1 - Overview: Lactic Acid, Spinal Fluid

Aid in differentiating between bacterial and viral meningitis Aid in identifying increased anaerobic glycolysis or hypoxia associated with bacterial meningitis, cerebral infarction, cerebral arteriosclerosis, intracranial hemorrhage,...

GNADM - Overview: Hereditary Thrombotic Thrombocytopenic Purpura, ADAMTS13 Gene, Next-Generation Sequencing, Varies

Evaluating hereditary thrombotic thrombocytopenic purpura (TTP) in patients with a personal or family history suggestive of thrombotic microangiopathy Confirming a hereditary TTP diagnosis with the identification of known or suspected...

PCGP - Overview: Porphyria Comprehensive Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of porphyria Establishing a molecular diagnosis for patients with porphyria Identifying variants within genes known to be associated with porphyria, allowing for predictive testing of...

CGPH - Overview: Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies

Customization of existing next-generation sequencing panels offered through Mayo Clinic Laboratories Detection single nucleotide and copy number variants in a custom gene panel Identification of a pathogenic variant may assist with...

GNF7 - Overview: Factor VII Deficiency, F7 Gene, Next-Generation Sequencing, Varies

Evaluating factor VII deficiency (FVIID) in patients with a personal or family history suggestive of FVIID Confirming an FVIID diagnosis with the identification of known or suspected disease-causing alterations in the F7 gene...

SCCNP - Overview: Severe Congenital and Cyclic Neutropenia Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of severe congenital neutropenia and/or cyclic neutropenia Establishing a diagnosis of an inherited congenital neutropenia and, in some cases,...

IMMAU - Overview: Inborn Errors of Immunity with Immune Dysregulation and Autoimmunity Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inborn error of immunity (IEI) associated with immune dysregulation or autoimmunity Establishing a diagnosis of an IEI, allowing...

ALDU - Overview: Aldosterone, 24 Hour, Urine

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

RALB1 - Overview: Albumin, Random, Urine

Assessing the potential for early onset of nephropathy in diabetic patients using random urine specimens

MANN - Overview: Alpha-Mannosidase, Leukocytes

Diagnosis of alpha-mannosidosis This test is not useful for establishing carrier status for alpha-mannosidosis.

APOLB - Overview: Apolipoprotein B, Serum

Assessment of cardiovascular risk Follow-up studies in individuals with basic lipid measures inconsistent with risk factors or clinical presentation Definitive studies of cardiac risk factors in individuals with significant family...

C1QFX - Overview: C1q Complement, Functional, Serum

Diagnosis of C1 deficiency Investigation of a patient with an absent total complement level

C8FX - Overview: C8 Complement, Functional, Serum

Diagnosis of C8 deficiency Investigation of a patient with an undetectable total hemolytic complement level

C9FX - Overview: C9 Complement, Functional, Serum

Diagnosis of C9 deficiency Investigation of a patient with a low total (hemolytic) complement level

C1ES - Overview: C1 Esterase Inhibitor Antigen, Serum

Diagnosis of hereditary angioedema Monitoring levels of C1 esterase inhibitor in response to therapy

AHDV - Overview: Hepatitis D Virus Total Antibodies, Serum

Detection of hepatitis D virus (HDV)-specific total antibodies (combined IgG and IgM) in human serum Diagnosis of concurrent HDV infection in patients with fulminant acute hepatitis B virus (HBV) infection (acute coinfection), chronic HBV...

BCGR - Overview: Immunoglobulin Gene Rearrangement, Blood

Determining whether a B-cell or plasma cell population is polyclonal or monoclonal using whole blood specimens Identifying neoplastic cells as having B-cell or plasma cell differentiation Monitoring for a persistent neoplasm by...

FACTV - Overview: Coagulation Factor V Activity Assay, Plasma

Diagnosing congenital deficiencies (rare) of coagulation factor V Evaluating acquired deficiencies associated with liver disease, factor V inhibitors, myeloproliferative disorders, and intravascular coagulation and fibrinolysis...

CARNU - Overview: Carnitine, Random, Urine

Evaluation of patients with a clinical suspicion of a wide range of conditions including organic acidemias and fatty acid oxidation disorders Monitoring carnitine treatment

GAL1 - Overview: GALAD Score, Serum

Calculation of the GALAD (gender, age, alpha-fetoprotein L3% [AFP-L3], AFP, des-gamma-carboxy prothrombin) model score for hepatocellular carcinoma development in patients with chronic liver disease

HCQ - Overview: Hydroxychloroquine, Serum

Monitoring serum hydroxychloroquine concentrations, assessing compliance, and adjusting dosage in patients

PARID - Overview: Parasite Identification, Varies

Gross identification of parasites (eg, worms) and arthropods (eg, ticks, bed bugs, lice, mites) Detecting or eliminating the suspicion of parasitic infection by identifying suspect material passed in stool or found on the body Supporting...

PNTFT - Overview: Phenytoin, Total and Free, Serum

Monitoring for appropriate therapeutic concentration of both free and total phenytoin: free phenytoin level is the best indicator of adequate therapy in renal failure

PBGU - Overview: Porphobilinogen, Quantitative, Random, Urine

First-order test for evaluating a suspected acute porphyria: acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria

REVEI - Overview: Erythrocytosis Interpretation

Interpretation of Erythrocytosis Evaluation profile test Definitive, comprehensive, and economical evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased hemoglobin or hematocrit

CIFA - Overview: Cutaneous Immunofluorescence Antibodies, IgA, Serum

Confirming the presence of IgA antibodies to diagnose pemphigoid, pemphigus, epidermolysis bullosa acquisita, or bullous lupus erythematosus

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