Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of dilated cardiomyopathy or left ventricular noncompaction Establishing a diagnosis of a hereditary form dilated cardiomyopathy...
CGAK - Overview: Chromogranin A, Serum
Aiding in monitoring disease progression during the course of disease and treatment in patients with gastroenteropancreatic neuroendocrine tumors (grade 1 and grade 2) when used in conjunction with other clinical methods This test is not...
CACMG - Overview: Comprehensive Arrhythmia and Cardiomyopathy Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of either a cardiomyopathy or cardiac arrhythmia Establishing a diagnosis of a hereditary form of either a cardiomyopathy or...
CRCL - Overview: Creatinine Clearance, Serum and 24-Hour Urine
Estimation of glomerular filtration rate
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of Epstein-Barr virus (EBV) susceptibility or a heritable predisposition to lymphoproliferative disease Establishing a diagnosis of a...
SMNDX - Overview: Spinal Muscular Atrophy Diagnostic Assay, Deletion/Duplication Analysis, Varies
First-tier newborn screening for spinal muscular atrophy (SMA) Prenatal testing for SMA Diagnostic testing to confirm a suspected diagnosis of SMA
DHCRZ - Overview: Smith Lemli Opitz Syndrome, DHCR7 Gene, Full Gene Analysis, Varies
Follow up for abnormal biochemical results suggestive of Smith-Lemli-Opitz syndrome Establishing a molecular diagnosis for patients with Smith-Lemli-Opitz syndrome Identifying alterations within DHCR7 allowing for predictive testing of...
STICK - Overview: Tick-Borne Antibodies, Modified 2-Tier, ELISA, Serum
Evaluation of the most common tick-borne diseases found in the United States, including Lyme disease, human monocytic and granulocytic ehrlichiosis, and babesiosis using the modified 2-tier testing algorithm approach Evaluation of patients...
Providing a genetic evaluation for patients with a personal or family history of steroid resistant nephrotic syndrome (SRNS) Establishing a diagnosis of hereditary SRNS Guiding treatment decisions in individuals with nephrotic syndrome
GNVWD - Overview: von Willebrand Disease, VWF and GP1BA Genes, Next-Generation Sequencing, Varies
Evaluating von Willebrand disease and platelet-type von Willebrand disease in patients with a personal or family history suggestive of von Willebrand disease Confirming von Willebrand disease or platelet-type von Willebrand disease...
TALPF - Overview: T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), FISH, Pediatric, Varies
Detecting, at diagnosis, recurrent common chromosome abnormalities associated with T-cell acute lymphoblastic leukemia/lymphoma (T-ALL) in pediatric/young adult patients As an adjunct to conventional chromosome studies in pediatric/young...
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...
OPE - Overview: Ova and Parasite, Travel History or Immunocompromised, Feces
Detecting and identifying parasitic protozoa and eggs and larvae of parasitic helminths in stool specimens
PARVO - Overview: Parvovirus B19, Molecular Detection, PCR, Varies
Diagnosing parvovirus B19 infection
T4 - Overview: T4 (Thyroxine), Total Only, Serum
Monitoring treatment with synthetic hormones (synthetic T3 [triiodothyronine] will cause a low total T4 [thyroxine]) Monitoring treatment of hyperthyroidism with thiouracil and other anti-thyroid drugs Index of thyroid function when the...
WNVUR - Overview: West Nile Virus, RNA, PCR, Molecular Detection, Random, Urine
Rapid testing for West Nile virus (WNV) RNA (lineage 1 and lineage 2) An adjunctive test to serology for detection of early WNV infection (ie, first few days after symptom onset), with urine specimens potentially retaining WNV RNA longer...
23BPR - Overview: 2,3-Dinor 11 Beta-Prostaglandin F2 Alpha, Random, Urine
Screening for mast cell activation disorders including systemic mastocytosis using random urine specimens
VITAE - Overview: Vitamin A and Vitamin E, Serum
Diagnosing vitamin A deficiency and toxicity Evaluating persons with intestinal malabsorption of lipids Monitoring of Vitamin E supplementation/treatment
TSTIM - Overview: Targeted Stimulant Screen, Random, Urine
Aiding in the determination of compliance or identify illicit stimulant drug use This test is not intended for use in employment-related testing.
TSPU - Overview: Targeted Stimulant Screen, Random, Urine
Determining compliance or identifying illicit stimulant drug use This test is not intended for employment-related testing.
VWFMS - Overview: von Willebrand Factor Multimer Analysis, Plasma
Resolving discrepancies when results of complementary laboratory tests (eg, F8A / Coagulation Factor VIII Activity Assay, Plasma; VWACT / von Willebrand Factor Activity, Plasma; and VWAG / von Willebrand Factor Antigen, Plasma) are...
ASMW - Overview: Acid Sphingomyelinase, Leukocytes
Investigation of possible diagnosis of Niemann-Pick disease types A and B This test is not recommended for carrier detection because of the wide range of enzymatic activities observed in carriers and noncarriers.
ROMA - Overview: ROMA Score (Ovarian Malignancy Risk Algorithm), Serum
Risk assessment for finding an ovarian malignancy during surgery in women who present with an adnexal mass The test is not intended as a screening or stand-alone diagnostic assay for ovarian cancer.
WNCSF - Overview: West Nile Virus, RNA, PCR, Molecular Detection, Spinal Fluid
Rapid testing for West Nile virus (WNV) RNA (lineage 1 and lineage 2) using cerebrospinal fluid specimens An adjunctive test to serology for detection of early WNV infection (ie, first few days after symptom onset) This assay should not...
HPP12 - Overview: HIV-1/HIV-2 RNA Detection Prenatal, Plasma
Diagnosis of HIV-1 and/or HIV-2 infection in pregnant individuals with indeterminate or inconclusive HIV serologic test results Diagnosis of HIV-1 and/or HIV-2 infection in pregnant individuals in the acute or early phase of HIV-1 and/or...
HPS12 - Overview: HIV-1/HIV-2 RNA Detection Prenatal, Serum
Diagnosis of HIV-1 and/or HIV-2 infection in pregnant individuals with indeterminate or inconclusive HIV serologic test results Diagnosis of HIV-1 and/or HIV-2 infection in pregnant individuals in the acute or early phase of HIV-1 and/or...
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...
FACT - Overview: Filamentous-Actin (F-actin) Antibody, IgG, Serum
Evaluation of patients with hepatitis of unknown origin associated with hypergammaglobulinemia and/or abnormal liver enzymes This test may also be useful for confirming positivity for smooth muscle antibodies.
GMCSF - Overview: Granulocyte Monocyte-Colony Stimulating Factor, Plasma
Measuring the concentration of granulocyte macrophage-colony stimulating factor (GM-CSF) in plasma Understanding the etiology of chronic inflammatory diseases or infections, when used in conjunction with clinical information and other...
10INE - Overview: Factor X Inhibitor Evaluation, Plasma
Detection and quantitation of inhibitor to coagulation factor X This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a nonspecific circulating anticoagulant, or other inhibitors that are not...
2INHE - Overview: Factor II Inhibitor Evaluation, Plasma
Detection and quantitation of inhibitor to factor II This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a nonspecific circulating anticoagulant, or other inhibitors that are not specific for...
5INHE - Overview: Factor V Inhibitor Evaluation, Plasma
Detection and quantitation of inhibitors against coagulation factor V This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a nonspecific circulating anticoagulant, or other inhibitors that are not...
FFRBS - Overview: Friedreich Ataxia, Frataxin, Quantitative, Blood Spot
Diagnosing individuals with Friedreich ataxia in blood spot specimens Monitoring frataxin levels in patients with Friedreich ataxia This test is not useful for carrier detection.
ERPR - Overview: Estrogen/Progesterone Receptor, Semi-Quantitative Immunohistochemistry, Manual
Guiding decisions on hormonal therapy in patients with breast carcinomas This test is not useful for cases of lobular carcinoma in situ.
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.
FRTUP - Overview: Free Thyroxine Index (FTI), Serum
Estimating the amount of circulating free thyroxine (free thyroxine index) using the total thyroxine and thyroid binding capacity (T-uptake)
KRASP - Overview: KRAS Somatic Mutation Analysis, Tumor
Detecting molecular markers associated with response or resistance to specific cancer
MPS3W - Overview: Mucopolysaccharidosis III, Four-Enzyme Panel, Leukocytes
Supporting the biochemical diagnosis of mucopolysaccharidoses types IIIA, IIIB, IIIC, IIID This test is not useful for carrier detection.
AH50 - Overview: Alternative Complement Pathway, Functional, Serum
Investigation of suspected alternative pathway complement deficiency, atypical hemolytic uremic syndrome, C3 glomerulonephritis, and dense-deposit disease
WAGDR - Overview: Alpha Globin Cluster Locus Deletion/Duplication, Blood
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.
ALDNA - Overview: Aldosterone with Sodium, 24 Hour, Urine
Investigating primary aldosteronism (eg, adrenal adenoma/carcinoma and adrenal cortical hyperplasia) and secondary aldosteronism (eg, renovascular disease, salt depletion, potassium loading, cardiac failure with ascites, pregnancy, Bartter...
ASOU - Overview: Arsenic Occupational Exposure, Random, Urine
Screening test for detection of occupational exposure to arsenic in random urine specimens
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.
AN1TS - Overview: Antineuronal Nuclear Antibody-Type 1 (ANNA-1) Titer, Serum
Diagnosis of paraneoplastic autoimmune neuropathies, encephalomyeloradiculopathies, related neurologic disorders, and intestinal pseudo-obstruction/dysmotility associated with small-cell lung carcinoma Reporting an end titer result from...
GUSBB - Overview: Beta-Glucuronidase, Blood Spot
Supporting the biochemical diagnosis of mucopolysaccharidosis VII (MPS VII, Sly syndrome) This test is not useful for determining carrier status for MPS VII.
CTX - Overview: Beta-CrossLaps, Serum
Monitoring antiresorptive therapies (eg, bisphosphonates and hormone replacement therapy) in postmenopausal women treated for osteoporosis and individuals diagnosed with osteopenia An adjunct in the diagnosis of medical conditions...
CAMPC - Overview: Campylobacter Culture, Feces
Determining whether Campylobacter species may be the cause of diarrhea Reflexive testing for Campylobacter species from nucleic acid amplification test-positive feces This test is generally not useful for patients hospitalized more than...
CMAFF - Overview: Chromosomal Microarray (CMA) Familial Testing, FISH
Determining the inheritance pattern of copy number changes previously identified by chromosomal microarray analysis in a patient and aiding in the clinical interpretation of the pathogenicity of the copy number change
BRBST - Overview: Tickborne Bacterial, PCR and Sequencing, Blood
Detecting and identifying pathogenic tickborne bacteria infecting normally sterile whole blood Potential detection of bacteria that cause similar illnesses to tickborne infections This test should not be used as first tier test. It should...
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....