Search Results

Test Catalog

DOCS - Overview: 11-Deoxycorticosterone, Serum

Diagnosis of suspected 11-hydroxylase deficiency, including the differential diagnosis of 11-beta-hydroxylase 1 (CYP11B1) versus 11-beta-hydroxylase 2 (CYP11B2) deficiency Diagnosis of glucocorticoid-responsive...

SQTSG - Overview: Short QT Syndrome Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of short QT syndrome Establishing a diagnosis of short QT syndrome

GNMTC - Overview: Macro/Microthrombocytopenia Gene Panel, Next-Generation Sequencing, Varies

Evaluating hereditary macro- or microthrombocytopenia disorders in patients with a personal or family history suggestive of a hereditary macro- or microthrombocytopenia disorder Diagnosing hereditary macro- or microthrombocytopenia...

GNSPD - Overview: Platelet Storage Pool Deficiency Gene Panel, Next-Generation Sequencing, Varies

Evaluating hereditary platelet storage pool deficiencies in patients with a personal or family history suggestive of a hereditary platelet storage pool deficiency Diagnosing hereditary platelet storage pool deficiencies for patients in...

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

PKU - Overview: Phenylalanine and Tyrosine, Plasma

Monitoring effectiveness of dietary therapy in patients with hyperphenylalaninemia

QFEVR - Overview: Q Fever Antibody Screen with Titer Reflex, Serum

Screening for exposure to Coxiella burnetii, the causative agent of Q fever This test should not be used as a screening procedure for the general population.

UPGC - Overview: Uroporphyrinogen III Synthase (Co-Synthase), Erythrocytes

Diagnosis of congenital erythropoietic porphyria This test is not useful for diagnosis of acute intermittent porphyria (AIP).

HMHA - Overview: Heavy Metals, Hair

Detection of nonacute arsenic, mercury, and lead exposure using hair specimens

FUFXS - Overview: Fragile X, Follow-up Analysis

Confirming the methylation status of the repeat expansion allele in the FMR1 gene, to aid the diagnosis of FMR1-related disorders

JCPCR - Overview: JC Virus, Molecular Detection, PCR, Spinal Fluid

Aiding in diagnosing progressive multifocal leukoencephalopathy due to JC virus This test is not to be used as a diagnostic tool for Creutzfeldt-Jakob disease This test is not recommended for screening asymptomatic patients

ALAD - Overview: Aminolevulinic Acid Dehydratase, Whole Blood

Preferred confirmation test for the diagnosis of aminolevulinic acid dehydratase deficiency porphyria This test is not useful for detecting lead intoxication.

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...

PFCEA - Overview: Carcinoembryonic Antigen (CEA), Pleural Fluid

An adjuvant to cytology and imaging studies to differentiate between nonmalignant and malignant causes of pleural effusions

COBRU - Overview: Cobalt/Creatinine Ratio, Random, Urine

Detecting cobalt exposure in a random urine collection Monitoring metallic prosthetic implant wear This test is not useful for assessment of vitamin B12 activity.

COU - Overview: Cobalt, 24 Hour, Urine

Detecting cobalt exposure Monitoring metallic prosthetic implant wear This test is not useful to assess vitamin B12 activity.

EMAIG - Overview: Endomysial Antibodies, IgG, Serum

Analysis of IgG-endomysial antibodies for the diagnosis of dermatitis herpetiformis and celiac disease Monitoring adherence to gluten-free diet in patients with dermatitis herpetiformis and celiac disease

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...

GNHTC - Overview: Hereditary Thrombocytopenia Gene Panel, Next-Generation Sequencing, Varies

Evaluating hereditary thrombocytopenia disorders in patients with a personal or family history suggestive of a hereditary thrombocytopenia disorder Diagnosing hereditary thrombocytopenia disorders for patients in whom phenotypic testing is...

DCORT - Overview: 11-Deoxycortisol, Serum

Diagnostic workup of patients with congenital adrenal hyperplasia Part of metyrapone testing in the workup of suspected secondary or tertiary adrenal insufficiency Part of metyrapone testing in the differential diagnostic workup of...

RIB - Overview: Ribosome P Antibodies, IgG, Serum

As an adjunct in the diagnostic evaluation of patients with systemic lupus erythematosus (SLE) May be useful in the phenotypic stratification of SLE patients at risk for neuropsychiatric SLE, lupus nephritis and/or hepatitis

SSB - Overview: SS-B/La Antibodies, IgG, Serum

Evaluating patients with clinical features or at-risk for connective tissue disease, especially Sjögren syndrome.

EAG - Overview: Hepatitis B Virus e Antigen, Serum

Determining the presence or absence of detectable hepatitis B virus e antigen in monitoring infection status of individuals with chronic hepatitis B Determining infectivity of hepatitis B virus (HBV) carriers Monitoring serologic...

HEAB - Overview: Hepatitis B Virus e Antibody, Serum

Determining the presence or absence of detectable hepatitis B virus e antibody in monitoring infection status of individuals with chronic hepatitis B Determining infectivity of hepatitis B virus (HBV) carriers Monitoring serologic...

HBIM - Overview: Hepatitis B Virus Core IgM Antibody, Serum

Diagnosis of acute hepatitis B virus (HBV) infection Identifying acute HBV infection in the serologic window period when hepatitis B virus surface antigen and hepatitis B virus surface antibody results are negative Differentiation...

ENTP - Overview: Enterovirus, Molecular Detection, PCR, Plasma

Aiding in diagnosing enterovirus infections using plasma specimens This test should not be used to screen asymptomatic patients.

ALADW - Overview: Aminolevulinic Acid Dehydratase, Washed Erythrocytes

Confirmation of a diagnosis of aminolevulinic acid dehydratase deficiency porphyria using washed erythrocyte specimens This test is not useful for detecting lead intoxication.

L3AFP - Overview: Alpha-Fetoprotein (AFP) L3% and Total, Hepatocellular Carcinoma Tumor Marker, Serum

Distinguishing between hepatocellular carcinoma and chronic liver disease Monitoring individuals with hepatic cirrhosis from any etiology for progression to hepatocellular carcinoma Surveillance for development of hepatocellular...

BAPS - Overview: Bile Acid Profile, Serum

Evaluating the enterohepatic cycle consisting of the biliary system, intestine, portal circulation, and hepatocytes Supporting researchers in need of free and conjugated values of all 20 bile acid species as well as total bile acid

CFRC - Overview: Bacterial Culture, Cystic Fibrosis, Respiratory

Detecting disease-causing aerobic bacteria in specimens from patients with cystic fibrosis

CMVLR - Overview: Cytomegalovirus (CMV) Molecular Detection, PCR, Lower Respiratory

Rapid qualitative detection of cytomegalovirus (CMV) DNA in lower respiratory specimens This test is not intended for the monitoring of CMV disease progression or response to therapy.

PBGDW - Overview: Porphobilinogen Deaminase, Washed Erythrocytes

Confirmation of a diagnosis of acute intermittent porphyria using washed erythrocyte specimens

UPGD - Overview: Uroporphyrinogen Decarboxylase, Whole Blood

Preferred test for the confirmation of a diagnosis of porphyria cutanea tarda type II and hepatoerythropoietic porphyria

GNPLT - Overview: Platelet Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies

Evaluating hereditary platelet disorders in patients with a personal or family history suggestive of a hereditary platelet disorder Diagnosing hereditary platelet disorders for patients in whom phenotypic testing is nondiagnostic, but...

RPDE - Overview: Rapidly Progressive Dementia Evaluation, Spinal Fluid

Evaluation of individuals presenting with rapidly progressive dementia of uncertain disease etiology and a differential diagnosis of Creutzfeldt-Jakob disease and rapidly progressive Alzheimer disease

ADEVL - Overview: Alzheimer Disease Evaluation, Spinal Fluid

Assessment of adults with cognitive impairment being evaluated for Alzheimer disease and other causes of cognitive impairment These assays should not be used to predict the development of dementia or other neurologic conditions or to...

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

HGH - Overview: Growth Hormone, Serum

Diagnosis of acromegaly and assessment of treatment efficacy when interpreted in conjunction with results from glucose suppression test Diagnosis of human growth hormone deficiency when interpreted in conjunction with results from growth...

HEAG - Overview: Hepatitis B Virus e Antigen and Hepatitis B Virus e Antibody, Serum

Determining the presence or absence of detectable hepatitis B virus e antigen and antibody in monitoring infection status of individuals with chronic hepatitis B Determining infectivity of hepatitis B virus (HBV) carriers Monitoring...

HBNTP - Overview: Hepatitis B Virus Surface Antigen Confirmation, Prenatal, Serum

Diagnosis of acute, recent, or chronic hepatitis B in prenatal patients This test is not useful during the "window period" of acute hepatitis B (ie, after disappearance of hepatitis B virus surface antigen [HBsAg] and prior to appearance...

Site Search

State-of-the-art genetics panel optimizes kidney disease treatment - Insights

Linnea M. Baudhuin, Ph.D., and Emily K. Thoreson, M.S., CGC, explain how Mayo Clinic Laboratories renal genetics testing provides comprehensive, accurate and actionable results. Identifying a genetic cause...

newborn-screen-decreased-free-carnitineco.pdf

acylcarnitines relatively low Perform: Plasma ammonia, blood gas, glucose, electrolytes, creatine k......