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.

GAAW - Overview: Acid Alpha-Glucosidase, Leukocytes

Diagnosis of Pompe disease

AH50 - Overview: Alternative Complement Pathway, Functional, Serum

Investigation of suspected alternative pathway complement deficiency, atypical hemolytic uremic syndrome, C3 glomerulonephritis, and dense-deposit disease

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...

CDPCR - Overview: Clostridioides difficile Toxin, PCR, Feces

Sensitive, specific, and rapid diagnosis of Clostridioides (Clostridium) difficile-associated diarrhea and pseudomembranous colitis The test is not recommended as a test of cure.

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...

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...

KCSFP - Overview: Immunoglobulin Kappa Free Light Chain, Spinal Fluid

Diagnosis of multiple sclerosis and other demyelinating conditions

CMAT - Overview: Chromosomal Microarray, Tumor, Fresh or Frozen

Genomic characterization of tumor for copy number imbalances and loss of heterozygosity Assisting in the diagnosis and classification of malignant neoplasms, including hematolymphoid malignancies Evaluating the prognosis for patients with...

CRMTS - Overview: Collapsin Response-Mediator Protein-5 (CRMP-5) Neuronal IgG Titer, Serum

Evaluation of neurological autoimmunity particularly that associated with small-cell lung carcinoma and thymoma Reporting an end titer result from serum specimens

CRMTC - Overview: Collapsin Response-Mediator Protein-5 (CRMP-5) Neuronal IgG Titer, Spinal Fluid

Evaluation of neuroautoimmunity, particularly small-cell lung carcinoma and thymoma, in conjunction with other antineuronal antibodies Reporting an end titer result from cerebrospinal fluid specimens

HBABT - Overview: Hepatitis B Virus Surface Antibody Monitor, Post-Transplant, Serum

Monitoring serum hepatitis B virus surface antibody levels during intravenous or intramuscular hepatitis B immune globulin therapy to prevent hepatitis B virus reinfection in liver transplant recipients with known previous chronic hepatitis...

HSVC - Overview: Herpes Simplex Virus (HSV), Molecular Detection, PCR, Spinal Fluid

Aiding in the rapid diagnosis of herpes simplex virus (HSV)-1 and HSV-2 infections of the central nervous system

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 HBV surface antigen and HBV surface antibody results are negative Differentiation between acute, chronic, or past...

NSESF - Overview: Neuron-Specific Enolase (NSE), Spinal Fluid

An auxiliary test in the diagnosis of Creutzfeldt-Jakob disease An auxiliary test in the diagnosis of small cell lung carcinoma metastasis to central nervous system or leptomeninges

PAI1 - Overview: Plasminogen Activator Inhibitor Antigen, Plasma

Identification of heredity elevation or deficiency of plasminogen activator inhibitor type 1 Determination of risk for veno-occlusive disease associated with bone marrow transplantation Differential diagnosis of impaired fibrinolysis...

PTHFN - Overview: Parathyroid Hormone, Fine-Needle Aspiration Biopsy (FNAB)-Needle Wash

Discriminating thyroid tissue from enlarged parathyroid glands Facilitating parathyroid localization prior to surgery An adjunct to cytology examination of fine-needle aspiration specimens to confirm or exclude presence of parathyroid...

PDBS - Overview: Pompe Disease, Blood Spot

Evaluating patients with a clinical presentation suggestive of Pompe disease (muscle hypotonia, weakness, or cardiomyopathy) outside of the newborn screening setting

TFEBF - Overview: Renal Cell Carcinoma, 6p21.1 (TFEB) Rearrangement, FISH, Tissue

Identifying TFEB gene rearrangements in patients with renal cell carcinoma (RCC)

PKUSC - Overview: Phenylalanine and Tyrosine, Self-Collect, Blood Spot

Monitoring effectiveness of therapy in patients with hyperphenylalaninemia in a patient-collected specimen This test is not sufficient for follow-up for abnormal newborn screening results or for establishing a diagnosis of a specific...

PPFWE - Overview: Protoporphyrins, Fractionation, Washed Erythrocytes

Preferred test for analysis of erythrocyte protoporphyrin fractions Preferred test for evaluating patients with possible diagnoses of erythropoietic protoporphyria and X-linked dominant protoporphyria Establishing a biochemical...

PREGN - Overview: Pregnenolone, Serum

An ancillary test for congenital adrenal hyperplasia, particularly in situations in which a diagnosis of both 21- and 11-hydroxylase deficiency have been ruled out Confirming a diagnosis of 3-beta-hydroxy dehydrogenase deficiency

RO52 - Overview: Ro52 Antibody, IgG, Serum

Evaluating patients at risk for connective tissue disease with or without interstitial lung disease Differentiating single vs double positivity for Ro52 and Ro60 antibodies in combination with anti-Ro60

RO60 - Overview: Ro60 Antibody, IgG, Serum

Evaluating patients at risk for connective tissue disease with or without interstitial lung disease Differentiating single vs double positivity for Ro52 and Ro60 antibodies in combination with anti-Ro60

ROPAN - Overview: Ro52 and Ro60 Antibodies, IgG, Serum

Evaluating patients at risk for connective tissue disease with or without interstitial lung disease Differentiation of antibodies to Ro52 and Ro60 in patients known to be positive for anti-SS-A (Ro) antibodies

CRITH - Overview: DNA Double-Stranded (dsDNA) Antibodies by Crithidia luciliae IFA, IgG, Serum

Confirmation testing for dsDNA IgG antibodies in patients with clinical features of systemic lupus erythematosus or at-risk for disease This test should not be used independently for monitoring treatment response or establishing...

DTABS - Overview: Diphtheria/Tetanus Antibody Panel, Serum

Assessing antibody response to tetanus and diphtheria toxoid vaccines, which should be performed at least 3 weeks after immunization Aiding in the evaluation of immunodeficiency This test should not be used to diagnose tetanus infection

C1INF - Overview: C1 Esterase Inhibitor, Functional, Serum

Diagnosing hereditary angioedema Monitoring response to C1 esterase inhibitor replacement therapy

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)

FOBT - Overview: Fecal Occult Blood, Colorectal Cancer Screen, Qualitative, Immunochemical, Feces

Colorectal cancer screening Screening for gastrointestinal bleeding This test has not been validated for testing of patients with hemoglobinopathies.

MBLF - Overview: Mannan Binding Lectin Complement Pathway, Functional, Serum

Investigating recurrent meningococcal disease in young children Investigating recurrent or severe infections in adults Investigating glomerular kidney diseases Additionally, deficiencies or dysregulation within the complement system may...

GALE - Overview: Uridine Diphosphate-Galactose 4' Epimerase, Blood

Diagnosis of uridine diphosphate-galactose 4' epimerase deficiency

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

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

SCL70 - Overview: Scl 70 Antibodies, IgG, Serum

Evaluating patients with clinical features of systemic sclerosis and in the differential evaluation of individuals at-risk for connective tissue disease with Hep-2 substrate antinuclear antibody positive result, preferably using antinuclear...

SFGP - Overview: Spotted Fever Group Antibody, IgG and IgM, Serum

Aiding in the diagnosis of spotted fever group rickettsial infections

WNVS - Overview: West Nile Virus, RNA, PCR, Molecular Detection, Serum

Rapid testing for West Nile virus (WNV) RNA (lineage 1 and lineage 2) using serum specimens An adjunctive test to serology for detection of early WNV infection (ie, first few days after symptom onset) This test should not be used for...

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...

WNVBL - Overview: West Nile Virus, RNA, PCR, Molecular Detection, Blood

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 blood specimens potentially providing a greater...

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...

IHC - Overview: Mismatch Repair (MMR) Protein Immunohistochemistry Only, Tumor

Evaluating tumor tissue to identify patients at risk for having hereditary nonpolyposis colon cancer/Lynch syndrome

BALLM - Overview: B-Cell Lymphoblastic Leukemia Monitoring, Minimal Residual Disease Detection, Flow Cytometry, Varies

Aids in monitoring a previously confirmed diagnosis of B-cell acute lymphoblastic leukemia

MATCC - Overview: Maternal Cell Contamination, Molecular Analysis, Varies

Ruling out the presence of maternal cell contamination within a fetal specimen Required for all prenatal testing performed in Mayo Clinic Laboratories' Molecular and Biochemical Genetics laboratories

CSTB - Overview: CSTB Gene, Repeat Expansion Analysis, Varies

Molecular confirmation of clinically suspected CSTB-related progressive myoclonic epilepsy Identifying full penetrance dodecamer repeat expansions within CSTB known to cause CSTB-related progressive myoclonic epilepsy, allowing for...

SFEC - Overview: Iron and Total Iron-Binding Capacity, Serum

Screening for chronic iron overload diseases, particularly hereditary hemochromatosis Screening for iron deficiency as the cause of anemia Monitoring treatment for iron deficiency anemia This test should not be used as the primary test...

RTRP2 - Overview: Tubular Reabsorption of Phosphorus, Random Urine and Serum

Assessing renal reabsorption of phosphorus in a variety of pathological conditions associated with hypophosphatemia including hypophosphatemic rickets, tumor-induced osteomalacia, and tumoral calcinosis Adjusting phosphate replacement...

MPU - Overview: Monoclonal Protein Studies, 24 Hour, Urine

Monitoring patients with monoclonal gammopathies

RMPU - Overview: Monoclonal Protein Studies, Random, Urine

Identifying monoclonal gammopathies using random urine specimens

PSAU - Overview: Prostate-Specific Antigen (PSA) Ultrasensitive, Serum

As an aid in the detection of prostate cancer when used in conjunction with a digital rectal exam in men aged 50 years and older To aid in the prognosis and management of individuals diagnosed with prostate cancer Monitoring disease...

PHCGD - Overview: Phagocytic Disorders and Chronic Granulomatous Disease Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history of chronic granulomatous disease, Papillon-Lefevre syndrome, specific granule deficiency, leukocyte adhesion deficiency, or other phagocytic...

CSFME - Overview: Meningitis/Encephalitis Pathogen Panel, PCR, Spinal Fluid

Rapid detection of meningitis and encephalitis caused by: -Escherichia coli K1 (K1 serotype only) -Haemophilus influenzae -Listeria monocytogenes -Neisseria meningitidis (encapsulated strains only) -Streptococcus agalactiae (Group B...