F81P - Overview: Hemophilia A F8 Gene, Intron 1 Inversion Known Mutation Analysis, Prenatal

Prenatal testing for hemophilia A when a F8 intron 1 inversion has been identified in a family member

NAGS - Overview: Hexosaminidase A and Total Hexosaminidase, Serum

Carrier detection and diagnosis of Tay-Sachs disease and Sandhoff disease Ruling out I-cell disease This test is not useful for pregnant females or those treated with hormonal contraception.

PEANT - Overview: Peanut, IgE with Reflex to Peanut Components, IgE, Serum

Evaluating patients with suspected peanut allergy Evaluating patients with possible peanut cross-reactivity

PMSBB - Overview: Postmortem Screening, Bile and Blood Spot

Postmortem evaluation of individuals at any age who died suddenly or unexpectedly; testing is particularly recommended under the following circumstances (risk factors): -Family history of sudden infant death syndrome or other sudden...

PMHLH - Overview: Postmortem Primary Hemophagocytic Lymphohistiocytosis (HLH) Gene Panel, Tissue

Providing a comprehensive postmortem genetic evaluation in the setting of a death attributed to primary hemophagocytic lymphohistiocytosis Identifying a disease-causing variant in the decedent, which may assist with risk assessment and...

CARBR - Overview: Carbamazepine Hypersensitivity Pharmacogenomics, Varies

Identifying individuals with increased risk of carbamazepine- or oxcarbazepine-associated cutaneous adverse reactions

SPBX - Overview: Epidermal Nerve Fiber Density Consultation, Varies

Investigating polyneuropathies

CMPRE - Overview: Family Member Comparator Specimen for Exome Sequencing, Varies

Submitting a biological family member's specimen to be used as a comparator for affected patients (probands) undergoing whole exome sequencing

MGLE - Overview: Myasthenia Gravis/Lambert-Eaton Myasthenic Syndrome Evaluation, Serum

Confirming the autoimmune basis of a defect in neuromuscular transmission (eg, myasthenia gravis [MG], Lambert-Eaton myasthenic syndrome [LEMS]) Distinguishing LEMS from autoimmune forms of MG Providing a quantitative autoantibody...

MISCF - Overview: Miscellaneous Studies Using Chromosome-Specific Probes, FISH

Resolution of unusual or complex structural alterations, questionable mosaicism, and unbalanced chromosome abnormalities that cannot be resolved by chromosome or chromosomal microarray analysis Identifying gain, loss, or rearrangement of...

MCSMP - Overview: MayoComplete Sarcoma Mutation Panel, Next-Generation Sequencing, Tumor

Primarily for identifying mutations that help in the diagnosis of specific soft tissue and bone tumors (sarcoma) Secondarily for identifying mutations that have therapeutic or prognostic significance Assessing microsatellite instability...

MCM24 - Overview: Mast Cell Mediators, 24 Hour, Urine

Evaluating patients at risk for mast cell activation syndrome (eg, systemic mastocytosis) using 24-hour urine collections

MCLBP - Overview: MayoComplete Liquid Biopsy Panel, Next-Generation Sequencing, Cell-Free DNA

As an alternative to invasive tissue biopsies to assist in tumor profiling for diagnosis, predicting prognosis, and identifying targeted therapies for the treatment and management of patients with solid tumors As an alternative to invasive...

MPSER - Overview: Mucopolysaccharides Quantitative, Serum

Quantification of dermatan sulfate, heparan sulfate, and keratan sulfate in serum to support the biochemical diagnosis of mucopolysaccharidoses types I, II, III, IV, VI, or VII

PN23M - Overview: Streptococcus pneumoniae IgG Antibodies, 23 Serotypes, Serum

Assessing the IgG antibody response to active immunization with nonconjugated, 23-valent pneumococcal vaccines Assessing the IgG antibody response to active immunization with conjugated 13-valent, 15-valent and 20-valent pneumococcal...

SARCP - Overview: Sarcoma Targeted Gene Fusion/Rearrangement Panel, Next-Generation Sequencing, Tumor

Diagnosing specific soft tissue and bone tumors (sarcoma) based on the observed gene fusions (eg, PAX3/FOXO1 gene fusion observed in alveolar rhabdomyosarcoma, EWSR1-FLI1 gene fusion for Ewing sarcoma, SS18-SSX1/2 gene fusion for synovial...

BLWRF - Overview: Walnut-Food, IgE, with Reflex to Walnut-Food Components, IgE, Serum

Evaluation of patients with suspected walnut-food allergy

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...

FB12 - Overview: Vitamin B12 and Folate, Serum

Investigation of macrocytic anemia Workup of deficiencies seen in megaloblastic anemias Investigation of suspected folate deficiency

CDHZ - Overview: Hereditary Diffuse Gastric Cancer Syndrome, CDH1, Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of hereditary diffuse gastric cancer (HDGC) syndrome Establishing a diagnosis of HDGC syndrome allowing for targeted cancer surveillance based on associated risks...

CPVTG - Overview: Catecholaminergic Polymorphic Ventricular Tachycardia Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of catecholaminergic polymorphic ventricular tachycardia (CPVT) Establishing a diagnosis of CPVT

MGMR - Overview: Myasthenia Gravis Evaluation with Muscle-Specific Kinase (MuSK) Reflex, Serum

Diagnosing autoimmune myasthenia gravis (MG) in adults and children Distinguishing autoimmune from congenital MG in adults and children or other acquired forms of neuromuscular junction transmission disorders Establishing a quantitative...

BILEA - Overview: Bile Acids, Total, Serum

An aid in the evaluation of liver function Evaluation of liver function changes before the formation of more advanced clinical signs of illness such as icterus An aid in the determination of hepatic dysfunction as a result of chemical and...

FBILM - Overview: Biliary Tract Malignancy-Cytology, FISH, Varies

Assessing bile duct brushing or hepatobiliary brushing specimens for bile tract malignancy

ALU - Overview: Aluminum, 24 Hour, Urine

Monitoring aluminum exposure Preferred matrix for assessment of exposure in patients with normal kidney function since rapidly filtered by kidneys Monitoring metallic prosthetic implant wear This test is not an acceptable substitute for...

ALLOI - Overview: Allo-isoleucine, Blood Spot

Evaluation of newborn screening specimens that test positive for branched-chain amino acids elevations Follow-up of patients with maple syrup urine disease

AN2TC - Overview: Antineuronal Nuclear Antibody Type 2 (ANNA-2) Titer, Spinal Fluid

Investigating middle-aged or older patients who present with unexplainable signs of midbrain/cerebellar/brain stem disorder and/or myelopathy, especially women with a previous history of breast cancer, and both sexes if there is a history...

AN2TS - Overview: Antineuronal Nuclear Antibody Type 2 (ANNA-2) Titer, Serum

Investigating middle-aged or older patients who present with unexplainable signs of midbrain/cerebellar/brain stem disorder and/or myelopathy, especially women with a previous history of breast cancer, and both sexes if there is a history...

IBDP2 - Overview: Inflammatory Bowel Disease Serology Panel, Serum

Distinguishing between ulcerative colitis and Crohn disease in patients for whom the specific diagnosis is unclear based on endoscopic, pathologic, and imaging evaluations This test is not useful for determining the extent of disease in...

HRTVC - Overview: Heartland Virus, RNA, Molecular Detection, PCR, Spinal Fluid

Aiding in the diagnosis of central nervous system infection caused by Heartland virus using spinal fluid specimens

HRTVS - Overview: Heartland Virus, RNA, Molecular Detection, PCR, Serum

Aiding in the diagnosis of central nervous system infection caused by Heartland virus using serum specimens

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

SLFAT - Overview: Cryptococcus Antigen Titer, Lateral Flow Assay, Serum

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

GALP - Overview: Galactose, Quantitative, Plasma

Screening for galactosemia

HSVPB - Overview: Herpes Simplex Virus (HSV), Molecular Detection, PCR, Blood

Aiding in the rapid diagnosis of disseminated disease due to herpes simplex virus (HSV) Qualitative detection of HSV DNA This test should not be used to screen asymptomatic patients.

IDENT - Overview: Organism Referred for Identification, Aerobic Bacteria

Identification of pure isolates of aerobic bacteria Differentiation of members of the Staphylococcus aureus complex (S aureus, Staphylococcus argenteus, Staphylococcus schweitzeri)

LDAI - Overview: Progentec aiSLE DX Lupus Disease Activity Index, Plasma

Aiding in the assessment of current systemic lupus erythematosus disease activity when used in conjunction with standard clinical assessment

PLPMA - Overview: Prolactin, Pituitary Macroadenoma, Serum

Quantifying prolactin in serum specimens where the high-dose hook effect is suspected (eg, presence of pituitary tumor with symptoms of prolactinoma, and lower than expected serum prolactin concentration)

PC2TC - Overview: Purkinje Cell Cytoplasmic Antibody Type 2 (PCA-2) Titer, Spinal Fluid

Evaluating patients who present with a subacute neurological disorder of undetermined etiology and have risk factors for lung cancer Reporting an end titer result from spinal fluid specimens

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

PKUBS - Overview: Phenylalanine and Tyrosine, Blood Spot

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

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

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

ELASF - Overview: Pancreatic Elastase, Feces

Evaluating patients with suspected exocrine pancreatic insufficiency, with symptoms of unexplained diarrhea, constipation, steatorrhea, flatulence, weight loss, upper abdominal pain, and food intolerances Monitoring of exocrine pancreatic...

RISA - Overview: Risankizumab, Serum

Assessing the response to risankizumab therapy Assessing the need for dose escalation Evaluating potential changes or discontinuation of therapy Monitoring patients who need to be above a certain risankizumab concentration to improve the...

SALMC - Overview: Salmonella Culture, Feces

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

EDN - Overview: Eosinophil Derived Neurotoxin, Serum

Evaluating patients suspected to have a condition associated with eosinophilia or hypereosinophilia Evaluating patients with elevated peripheral blood eosinophil counts Managing patients with elevated eosinophil-derived neurotoxin in the...

EMA - Overview: Endomysial Antibodies, IgA, Serum

Analysis of IgA-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

CVRNA - Overview: Candida Vaginitis, Nucleic Acid Amplification RNA, Vaginal

Aiding in the diagnosis of Candida vaginitis This test is not intended for use in medico-legal applications.

CEE52 - Overview: CD52 Cell Expression Evaluation, Varies

Detecting cell-surface antigens on malignant cells that are potential therapeutic antibody targets, specifically CD52 Determining the eligibility of patients for monoclonal antibody therapies Monitoring response to the therapeutic...