FABRZ - Overview: Fabry Disease, Full Gene Analysis, Varies

Confirmation of a diagnosis of classic or variant Fabry disease in affected males with reduced alpha- galactosidase A enzyme activity Carrier or diagnostic testing for asymptomatic or symptomatic females, respectively

NAGR - Overview: Hexosaminidase A and Total, Leukocytes/Molecular Reflex, Whole Blood

Carrier detection and diagnosis of Tay-Sachs disease Carrier detection and diagnosis of Sandhoff disease

UNHB - Overview: Hemoglobin Stability, Blood

Work-up of congenital hemolytic anemias

CEASF - Overview: Carcinoembryonic Antigen (CEA), Spinal Fluid

Detecting meningeal carcinomatosis and intradural or extradural infiltration Differentiating brain parenchymal metastasis from adenocarcinoma or squamous-cell carcinoma

URCON - Overview: Urea, Random, Urine

Assessment of kidney failure (prerenal vs acute kidney injury)

OSMOF - Overview: Osmolality, Feces

Measurement of osmolality for the workup of cases of chronic diarrhea Diagnosis of factitious diarrhea (where patient adds fluid to stool to simulate diarrhea)

PAC1 - Overview: Paraneoplastic, Autoantibody Evaluation, Spinal Fluid

Aiding in the diagnosis of paraneoplastic neurological autoimmune disorders related to carcinoma of lung, breast, ovary, thymoma, or Hodgkin lymphoma using spinal fluid specimens

CLFAT - Overview: Cryptococcus Antigen Titer, Lateral Flow Assay, Spinal Fluid

Monitoring Cryptococcus antigen titers in cerebrospinal fluid Aiding in the diagnosis of cryptococcosis This test should not be used as a test of cure or to guide treatment decisions.

PF199 - Overview: Carbohydrate Antigen 19-9 (CA 19-9), Pleural Fluid

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

FSJIN - Overview: STRATIFY JCV DxSelect Antibody Inhibition Assay

STRATIFY JCV DxSelect Antibody Inhibition Assay

RKUR - Overview: Potassium, Random, Urine

Determining the cause for hyper- or hypokalemia using a random urine specimen

ROC - Overview: Rubeola (Measles) Antibodies, IgG and IgM, Spinal Fluid

Diagnosing central nervous system rubeola (measles) virus infection and/or subacute sclerosing panencephalitis

RCHLU - Overview: Chloride, Random, Urine

An indicator of fluid balance and acid-base homeostasis

RNAUR - Overview: Sodium, Random, Urine

Assessing acid-base balance, water balance, water intoxication, and dehydration

NY State Informed Consent Tests - Mayo Clinic Laboratories

NY State Informed Consent Tests New York State clients are required by New York State regulations to have completed informed-consent forms on file. When ordering the following tests, all NYS clients are required to indicate to...

HIVSP - Overview: HIV Antigen and Antibody Prenatal Routine Screen, Plasma

Screening for HIV-1 and HIV-2 infection in nonsymptomatic pregnant patients This test should not be used as a screening or confirmatory test for blood donor specimens.

HVCOP - Overview: HIV-1 and HIV-2 Antigen and Antibody Routine Screen, Plasma

Screening for HIV-1 and HIV-2 infection in nonsymptomatic, nonpregnant individuals older than 2 years This test should not be used as a screening or confirmatory test for blood donor specimens.

POWVC - Overview: Powassan Virus, RNA, Molecular Detection, PCR, Spinal Fluid

Rapid testing for Powassan virus RNA (lineage 1 and lineage 2) using cerebrospinal fluid specimens An adjunctive test to serology for detection of early Powassan virus infection (ie, first few days after symptom onset) This assay should...

POWVB - Overview: Powassan Virus, RNA, Molecular Detection, PCR, Blood

Rapid testing for Powassan virus RNA (lineage 1 and lineage 2) using whole blood specimens An adjunctive test to serology for detection of early Powassan virus infection (ie, first few days after symptom onset) This assay should not be...

CHIKC - Overview: Chikungunya Virus, PCR, Molecular Detection, Spinal Fluid

Qualitative detection of chikungunya virus in cerebrospinal fluid after early symptom onset (ideally <7 days) This test is not recommended for screening healthy patients.

POWVU - Overview: Powassan Virus, RNA, Molecular Detection, PCR, Random, Urine

Rapid testing for Powassan virus RNA (lineage 1 and lineage 2) using random urine specimens An adjunctive test to serology for detection of early Powassan virus infection (ie, first few days after symptom onset). This assay should not...

HIAAP - Overview: 5-Hydroxyindoleacetic Acid, Plasma

Biochemical diagnosis and monitoring of intestinal carcinoid syndrome using a plasma specimen

THEVI - Overview: Hemoglobinopathy Interpretation

Interpretation of results for the evaluation of thalassemias and hemoglobinopathies Evaluation of microcytosis Extensive and economical diagnosis and classification of hemoglobinopathies or thalassemia including complex...

HPLC - Overview: High-Performance Liquid Chromatography (HPLC) Hemoglobin Variant, Blood

Providing additional information, which aids in the identification of hemoglobin variants

WNVCI - Overview: West Nile CSF Interpretation

Interpretation of testing for a laboratory diagnosis of infection with West Nile virus using spinal fluid specimens Aids in diagnosis of central nervous system infection with West Nile virus

ARSBB - Overview: Arylsulfatase B, Blood Spot

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

EPOR - Overview: Erythropoietin Receptor (EPOR) Gene, Exon 8 Sequencing, Whole Blood

Assessing EPOR in the evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit

GNANG - Overview: Hereditary Angioedema Focused Gene Panel, Next-Generation Sequencing, Varies

Evaluating hereditary angioedema (HAE) with normal C1 inhibitor (C1INH) in patients with a suggestive personal or family history Confirming a diagnosis of HAE with normal C1INH with the identification of a known or suspected...

WNGC - Overview: West Nile Virus Antibody, IgG, Spinal Fluid

Aids in diagnosing recent or past central nervous system West Nile virus infection

MMAU - Overview: Methylmalonic Acid, Quantitative, Urine

Evaluating children with signs and symptoms of methylmalonic acidemia using urine specimens Evaluating individuals with signs and symptoms associated with a variety of causes of vitamin B12 (cobalamin) deficiency

ACHE_ - Overview: Acetylcholinesterase, Amniotic Fluid

Diagnosing open neural tube defects and, to a lesser degree, ventral wall defects

CRMWC - Overview: Collapsin Response-Mediator Protein-5-IgG, Western Blot, Spinal Fluid

Evaluation of cases of chorea, vision loss, cranial neuropathy and myelopathy

CRSY - Overview: Chromium, Synovial Fluid

Monitoring metallic prosthetic implant wear and local tissue destruction in failed hip arthroplasty constructs This test is not useful for assessment of potential chromium toxicity.

199PC - Overview: Carbohydrate Antigen 19-9 (CA 19-9), Pancreatic Cyst Fluid

As an adjunct in the assessment of pancreatic cysts, when used in conjunction with carcinoembryonic antigen, amylase, imaging studies and cytology

HIVDX - Overview: HIV-1 and HIV-2 Antigen and Antibody Diagnostic Evaluation, Plasma

Detecting HIV-1 and HIV-2 infection in symptomatic patients older than 2 years Follow-up testing of symptomatic individuals with reactive rapid HIV test results This test should not be used as a screening or confirmatory test for blood...

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...

POXP - Overview: Fatty Acid Profile, Peroxisomal (C22-C26), Plasma

Evaluating patients with possible peroxisomal disorders, including peroxisomal biogenesis disorders, X-linked adrenoleukodystrophy, and Refsum disease using plasma specimens Aiding in the assessment of peroxisomal function

MCMRU - Overview: Mast Cell Mediators, Random, Urine

Evaluating patients at risk for mast cell activation syndrome (eg, systemic mastocytosis) using random urine collections

FHBG - Overview: Hepatitis B Virus Genotyping

Hepatitis B Virus Genotyping

PC1TC - Overview: Purkinje Cell Cytoplasmic Antibody Type 1 (PCA-1) Titer, Spinal Fluid

Identifying female patients whose subacute cerebellar degeneration or peripheral neuropathy is due to a remote (autoimmune) effect of gynecologic or breast carcinoma Reporting an end titer result from spinal fluid specimens

TDP - Overview: Thiamine (Vitamin B1), Whole Blood

Assessment of thiamine deficiency Measuring thiamine levels in patients with behavioral changes, eye signs, gait disturbances, delirium, and encephalopathy; or in patients with questionable nutritional status, especially those who appear...

WNMC - Overview: West Nile Virus Antibody, IgM, Spinal Fluid

Aids in diagnosing central nervous system West Nile virus infections during the acute phase

NIUCR - Overview: Nickel/Creatinine Ratio, Random, Urine

Preferred specimen type for biomonitoring nickel exposure

UHBAG - Overview: Histoplasma and Blastomyces Antigen, Enzyme Immunoassay, Urine

Diagnosing Histoplasma capsulatum or Blastomyces dermatitidis infection without differentiation between the organisms Monitor antigen levels following initiation of antifungal treatment

CXCFX - Overview: MYD88 Reflex to CXCR4 Mutation Detection, Varies

The prognosis and clinical management of lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia

OSG_F - Overview: Osmotic Gap, Feces

Workup of cases of chronic diarrhea Differentiating osmotic from non-osmotic causes of chronic diarrhea.

NIU - Overview: Nickel, 24 Hour, Urine

Preferred test for biomonitoring patients for nickel exposure to minimize any potential diurnal variation

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

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

CCOC - Overview: Coccidioides Antibody, Complement Fixation and Immunodiffusion, Spinal Fluid

Diagnosing coccidioidomycosis using spinal fluid specimens

COSY - Overview: Cobalt, Synovial Fluid

Monitoring metallic prosthetic implant wear and local tissue destruction in failed hip arthroplasty constructs This test is not useful for assessment of nutritional status or potential cobalt toxicity.