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

NCYB - Overview: Recessive Congenital Methemoglobinemia, CYB5 and CYB5 Reductase Genetic Analysis, Next-Generation Sequencing, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of recessive congenital methemoglobinemia Genotype confirmation of borderline cytochrome b5 reductase (methemoglobin reductase: METR) enzyme activity...

PFN - Overview: Propafenone, Serum

Monitoring propafenone therapy Assessing potential propafenone toxicity

SVISC - Overview: Viscosity, Serum

Detection of increased viscosity Monitoring patients with hyperviscosity syndrome This test is not useful for patients with small concentrations of monoclonal proteins.

FPAN2 - Overview: Pancreastatin, Plasma

Pancreastatin, Plasma

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

FENS - Overview: Fentanyl Screen, Random, Urine

Screening for drug abuse or use involving fentanyl

PBHA - Overview: Lead, Hair

Detecting lead exposure using hair specimens

LASF1 - Overview: Lactic Acid, Spinal Fluid

Aid in differentiating between bacterial and viral meningitis Aid in identifying increased anaerobic glycolysis or hypoxia associated with bacterial meningitis, cerebral infarction, cerebral arteriosclerosis, intracranial hemorrhage,...

JCV - Overview: JC Virus Detection by In Situ Hybridization

Confirming a clinical and histopathologic diagnosis of progressive multifocal leukoencephalopathy

MONOS - Overview: Infectious Mononucleosis, Rapid Test, Serum

Diagnosis of Epstein-Barr virus mononucleosis

LACS1 - Overview: Lactate, Plasma

Diagnosing and monitoring patients with lactic acidosis

RAT10 - Overview: Citrate/Creatinine Ratio, Urine

Calculating the citrate concentration per creatinine Diagnosing risk factors for patients with calcium kidney stones Monitoring results of therapy in patients with calcium stones or renal tubular acidosis

CZPS - Overview: Clonazepam and 7-Aminoclonazepam, Serum

Assessing patient compliance Monitoring for appropriate therapeutic level Assessing clonazepam toxicity

PHU_ - Overview: pH, Random, Urine

Assessment of patients with metabolic acidosis Assessment of crystalluria Monitoring the effectiveness of alkalinization or acidification of urine for certain medical conditions (eg, treatment of uric acid nephrolithiasis)

URCON - Overview: Urea, Random, Urine

Assessment of kidney failure (prerenal vs acute kidney injury)

PNEFS - Overview: Neuroimmunology Antibody Follow-up, Serum

Monitoring patients who have previously tested positive for one or more antibodies within the past 5 years in a Mayo Neuroimmunology Laboratory serum evaluation

GNF7 - Overview: Factor VII Deficiency, F7 Gene, Next-Generation Sequencing, Varies

Evaluating factor VII deficiency (FVIID) in patients with a personal or family history suggestive of FVIID Confirming an FVIID diagnosis with the identification of known or suspected disease-causing alterations in the F7 gene...

LSDGP - Overview: Lysosomal Storage Disease Gene Panel, Varies

Follow up for abnormal biochemical results and confirmation of suspected lysosomal storage disease (LSD) Establishing a molecular diagnosis for patients with LSD Identifying variants within genes known to be associated with LSD, allowing...

PEPAN - Overview: Comprehensive Peripheral Neuropathy Gene Panel, Varies

Establishing a molecular diagnosis for patients with peripheral neuropathy Identifying variants within genes known to be associated with peripheral neuropathy, allowing for predictive testing of at-risk family members

NMITO - Overview: Nuclear Mitochondrial Gene Panel, Next-Generation Sequencing, Varies

Diagnosing the subset of mitochondrial disease that results from variants in the nuclear-encoded genes A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial disease-related genes were...

CHLGP - Overview: Cholestasis Gene Panel, Varies

Establishing a molecular diagnosis for patients with monogenic cholestasis Identifying variants within genes known to be associated with primary, monogenic cholestasis, allowing for predictive testing of at-risk family members This panel...

ESTF - Overview: Estrogens, Estrone (E1) and Estradiol (E2), Fractionated, Serum

Simultaneous high-sensitivity determination of serum estrone and estradiol levels Situations requiring either higher sensitivity estradiol measurement, estrone measurement, or both, including -As part of the diagnosis and workup of...

SCCNP - Overview: Severe Congenital and Cyclic Neutropenia Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of severe congenital neutropenia and/or cyclic neutropenia Establishing a diagnosis of an inherited congenital neutropenia and, in some cases,...

WGSR - Overview: Whole Genome Sequencing Reanalysis, Varies

Identifying a diagnosis or additional variants associated with the phenotype in patients who previously have had a negative or inconclusive whole genome sequencing test Reanalyzing whole genome sequencing data when a patient (proband)...

AIAES - Overview: Axonal Neuropathy, Autoimmune/Paraneoplastic Evaluation, Serum

Evaluation of patients who present with a subacute neurological disorder of undetermined etiology, especially those with known risk factors for cancer Directing a focused search for cancer Investigating neurological symptoms that appear...

PC1TS - Overview: Purkinje Cell Cytoplasmic Antibody Type 1 (PCA-1) Titer, Serum

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 serum specimens

PSYCF - Overview: Psychosine, Spinal Fluid

Aiding in the biochemical diagnosis of Krabbe disease using cerebrospinal fluid specimens Follow-up of individuals affected with Krabbe disease Follow-up testing after an abnormal newborn screening result for Krabbe disease Monitoring...

TPBF - Overview: Protein, Total, Body Fluid

Identification of exudative pleural effusions Differentiating hepatic from other causes of ascites that have elevated serum ascites albumin gradient using peritoneal fluid

T3 - Overview: T3 (Triiodothyronine), Total, Serum

Second-order testing for hyperthyroidism in patients with low thyroid-stimulating hormone values and normal thyroxine levels Diagnosing triiodothyronine (T3) toxicosis This test is not useful for general screening of the population...

MAMMX - Overview: 6-Monoacetylmorphine (6-MAM) Confirmation, Chain of Custody, Meconium

Detecting in utero heroin exposure up to 5 months before birth Chain of custody is required whenever the results of testing could be used in a court of law. Its purpose is to protect the rights of the individual contributing the specimen...

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

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.

QFP - Overview: Q Fever IgM and IgG, Titer, Serum

Diagnosis of Coxiella burnetii, the causative agent of Q fever

UPGDW - Overview: Uroporphyrinogen Decarboxylase, Washed Erythrocytes

Diagnosis of porphyria cutanea tarda type II and hepatoerythropoietic porphyria

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.

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...

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.

LDBF - Overview: Lactate Dehydrogenase (LDH), Body Fluid

Identification of exudative pleural effusions Lactate dehydrogenase in pericardial fluids is not diagnostically useful.

AAUCD - Overview: Amino Acids, Urea Cycle Disorders Panel, Plasma

Follow-up of patients with urea cycle disorders

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...

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.

A1AFS - Overview: Alpha-1-Antitrypsin Clearance, Feces and Serum

Diagnosing protein-losing enteropathies

SAFB - Overview: Acid-Fast Smear for Mycobacterium, Varies

Detection of acid-fast bacilli in clinical samples

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.

LCMSP - Overview: Microsporidia species, Molecular Detection, PCR, Varies

Detecting Enterocytozoon bieneusi and Encephalitozoon species in fecal and urine specimens to support the clinical diagnosis of microsporidiosis

COVTA - Overview: Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2), Nucleocapsid, Total Antibody, Serum

Aiding in identifying individuals with an adaptive immune response to SARS-CoV-2, indicating recent or prior infection

SHIGC - Overview: Shigella Culture, Feces

Determining whether Shigella species may be the cause of diarrhea Reflexive testing for Shigella species from nucleic acid amplification test-positive stool This test is generally not useful for patients hospitalized more than 3 days...

TCGRV - Overview: T-Cell Receptor Gene Rearrangement, PCR, Varies

Determining whether a T-cell population is polyclonal or monoclonal using body fluid or tissue specimens