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Test Catalog
ETGL - Overview: Ethylene Glycol, Serum
Confirming and monitoring ethylene glycol toxicity
RPHOC - Overview: Phosphorus, Random, Urine
Evaluation of hypo- or hyperphosphatemic states Evaluation of patients with nephrolithiasis
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...
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...
AHEP - Overview: Acute Viral Hepatitis Profile, Serum
Differential diagnosis of recent acute viral hepatitis
ANST - Overview: Androstenedione, Serum
Diagnosis and differential diagnosis of hyperandrogenism, in conjunction with measurements of other sex steroids Diagnosis of congenital adrenal hyperplasia (CAH), in conjunction with measurement of other androgenic precursors,...
RABMP - Overview: Inherited Rhabdomyolysis and Metabolic Myopathy Panel, Varies
Establishing a molecular diagnosis for patients with rhabdomyolysis and metabolic myopathy Identifying variants within genes known to be associated with rhabdomyolysis and metabolic myopathy, allowing for predictive testing of at-risk...
CHDGG - Overview: Congenital Heart Disease Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history of congenital heart disease Establishing a diagnosis of a genetic condition associated with congenital heart disease
RPB - Overview: Respiratory Panel, PCR, Varies
Rapid detection of respiratory infections caused by the following: -Adenovirus -Coronavirus serotypes HKU1, NL63, 229E, OC43 -SARS-CoV-2 -Human metapneumovirus -Human rhinovirus/enterovirus -Influenza A subtypes H1, H1-2009, H3, influenza A...
PHEGP - Overview: Phenylalanine Disorders Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of a phenylalanine disorder Establishing a molecular diagnosis for patients with phenylalanine disorders Identifying variants within genes known to be associated with phenylalanine...
TSCP - Overview: Tuberous Sclerosis Gene Panel, Varies
Establishing a molecular diagnosis in individuals with features of tuberous sclerosis complex (TSC). Identifying pathogenic variants within the TSC1 and TSC2 genes known to be associated with TSC, allowing for predictive testing of at-risk...
AGDD - Overview: Alpha Globin Cluster Locus Deletion/Duplication, Varies
Diagnosis of alpha-thalassemia Carrier screening for individuals from high-risk populations for alpha-thalassemia This test is not useful for diagnosis or confirmation of beta-thalassemia or hemoglobinopathies.
KETGP - Overview: Ketone Disorders Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of a ketone disorder Establishing a molecular diagnosis for patients with ketone disorders Identifying variants within genes known to be associated with ketone disorders, allowing for...
MPAGP - Overview: Methylmalonic Aciduria-Propionic Aciduria Combined Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of methylmalonic acidemia or propionic acidemia Establishing a molecular diagnosis for patients with methylmalonic acidemia or propionic acidemia Identifying variants within genes...
Quantifying plasma HIV-1 RNA levels (viral load) in individuals (including children) with known HIV-1 infection, followed by identification of HIV-1 genotypic mutations associated with resistance to nucleotide and non-nucleoside...
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...
GSDGP - Overview: Glycogen Storage Disease Gene Panel, Varies
Follow up of abnormal biochemical results consistent with glycogen storage disease (GSD) Establishing a molecular diagnosis for patients with GSD Identifying variants within genes known to be associated with GSD allowing for predictive...
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...
AADAM - Overview: ADAMTS13 Profile Interpretation
Technical interpretation of a profile to assist with the diagnosis of congenital, immune, or acquired thrombotic thrombocytopenic purpura including inhibitor studies
BRIVA - Overview: Brivaracetam, Plasma
Assessing compliance and toxicity for brivaracetam
BIOTN - Overview: Biotin, Serum
Measurement of biotin in serum Assessment of biotin concentrations in individuals taking biotin supplements Investigation of unexpected results from immunoassays that utilize biotin-streptavidin detection methods This test is not useful...
BRUTA - Overview: Brucella Total Antibody Confirmation, Agglutination, Serum
Diagnosis of brucellosis
RAMBO - Overview: Ammonium, Random, Urine
Diagnosis of the cause of acidosis using random urine specimens Diagnosis and treatment of kidney stones
APBCC - Overview: Adaptor Protein 3 Beta2 (AP3B2) Antibody, Cell-Binding Assay, Spinal Fluid
The differential diagnosis of patients presenting with mixed cerebellar and sensory ataxia and myeloneuropathy Evaluating AP3B2 (adaptor protein 3 beta2)-IgG by cell-binding assay using spinal fluid specimens
APBCS - Overview: Adaptor Protein 3 Beta2 (AP3B2) Antibody, Cell-Binding Assay, Serum
The differential diagnosis of patients presenting with mixed cerebellar and sensory ataxia and myeloneuropathy Evaluating AP3B2 (adaptor protein 3 beta2)-IgG by cell-binding assay using serum specimens
RCHLU - Overview: Chloride, Random, Urine
An indicator of fluid balance and acid-base homeostasis
LY27B - Overview: HLA-B27, Blood
Assisting in the diagnostic process of ankylosing spondylitis, juvenile rheumatoid arthritis, and reactive arthritis
IL1B - Overview: Interleukin-1 Beta, Plasma
Measuring the concentration of interleukin-1 beta in plasma Evaluating patients experiencing inflammatory conditions, autoinflammatory disorders, and infection
IGD - Overview: Immunoglobulin D (IgD), Serum
Providing information on the humoral immune status Identifying an IgD monoclonal gammopathy
F8IS - Overview: Coagulation Factor VIII Inhibitor Screen, Plasma
Detecting the presence of a specific factor inhibitor directed against coagulation factor VIII
CURC - Overview: Copper/Creatinine Ratio, Urine
Measurement of copper concentration of a part of the investigation of Wilson disease and obstructive liver disease using a random urine specimen
NOTRP - Overview: Nortriptyline, Serum
Monitoring nortriptyline concentration during therapy Evaluating potential nortriptyline toxicity May aid in evaluating patient compliance
NCDCC - Overview: Neurochondrin Antibody, Cell-Binding Assay, Spinal Fluid
Evaluating neurochondrin-IgG by cell-binding assay using spinal fluid from patients presenting with cerebellar and brainstem syndrome
NCDCS - Overview: Neurochondrin Antibody, Cell-Binding Assay, Serum
Evaluating neurochondrin-IgG by cell-binding assay using serum from patients presenting with cerebellar and brainstem syndrome
SSF1 - Overview: Nocardia Stain, Varies
Detecting Nocardia species and other partially-acid fast aerobic actinomycetes in clinical specimens
POSV - Overview: Post Vasectomy Check, Semen
Determining absence or presence of sperm postvasectomy
UREDF - Overview: Reducing Substance, Feces
Assisting in the differentiation between osmotic and nonosmotic diarrhea Screening test for: -Diarrhea from disaccharidase deficiencies, (eg, lactase deficiency) -Monosaccharide malabsorption
PBR - Overview: Phenobarbital, Serum
Monitoring for appropriate therapeutic concentration of phenobarbital Assessing compliance or toxicity
RCVBS - Overview: Recoverin-IgG Antibody, Immunoblot, Serum
Evaluating patients with suspected paraneoplastic retinopathy accompanying small cell carcinoma
SDEX - Overview: Sickle Solubility, Blood
Screening for presence or absence of hemoglobin (Hb) S (sickle cell disease)
DESPR - Overview: Desipramine, Serum
Monitoring serum concentration of desipramine during therapy Evaluating potential desipramine toxicity May aid in evaluating patient compliance
DSAC - Overview: Disaccharidase Activity Panel, Tissue
Evaluation of patients who present with signs or symptoms suggestive of disaccharidase disorders This test is not intended for carrier detection.
DLAU - Overview: D-Lactate, Urine
Preferred test for diagnosing D-lactate acidosis, especially in patients with jejunoileal bypass and short-bowel syndrome
DLAC - Overview: D-Lactate, Plasma
As an adjunct to urine D-lactate (preferred) for the diagnosis of D-lactate acidosis
DIPGS - Overview: Diphtheria Toxoid IgG Antibody, Serum
Determining a patient's immunological response to diphtheria toxoid vaccination Aiding in the evaluation of immunodeficiency
DXPIN - Overview: Doxepin and Nordoxepin, Serum
Monitoring doxepin therapy Evaluating potential doxepin toxicity Evaluating patient compliance
ETGC - Overview: Ethyl Glucuronide Confirmation, Random, Urine
Monitoring abstinence in clinical and justice system settings
FXIII - Overview: Factor XIII (13), Screen, Plasma
Screening for factor XIII deficiency
F2_IS - Overview: Factor II Inhibitor Screen, Plasma
Detecting the presence of a specific factor inhibitor directed against coagulation factor II
F9_IS - Overview: Factor IX Inhibitor Screen, Plasma
Detecting the presence of a specific factor inhibitor directed against coagulation factor IX
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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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