CHOU - Overview: Carbohydrate, Urine
Screening for conditions associated with increased excretion of carbohydrates, including inborn errors of fructose and galactose metabolism. This test is not recommended as a follow up test for abnormal newborn screening for galactosemia.
TTF40 - Overview: TTF41 (SPT24) + p40 Immunostain, Technical Component Only
Thyroid transcription factor 1 aids in the classification of carcinomas of unknown origin p40 aids in the classification of carcinomas and lymphomas
SYNAP - Overview: Synaptophysin (SYNAPTO) Immunostain, Technical Component Only
Identification of neuronal tumors and tumors with neuroendocrine differentiation
P40NA - Overview: p40 + Napsin A Immunostain, Technical Component Only
p40 aids in the classification of carcinomas and lymphomas Napsin A aids in the identification of primary lung adenocarcinoma
COM - Overview: Complement, Total, Serum
Detection of individuals with an ongoing immune process First-tier screening test for congenital complement deficiencies
CYTH1 - Overview: T-Helper Cell Type 1 Cytokine Panel, Plasma
Assessment of plasma cytokine levels to understand the etiology of autoimmune and proinflammatory conditions when used in conjunction with clinical information and other laboratory testing
WHT - Overview: Wheat, IgE, Serum
Establishing a diagnosis of an allergy to wheat Defining the allergen responsible for eliciting signs and symptoms Identifying allergens: -Responsible for allergic response and/or anaphylactic episode -To confirm sensitization prior to...
DNJB9 - Overview: DNAJB9 Immunostain, Technical Component Only
Diagnosis of fibrillary glomerulonephritis
OPATM - Overview: Opiate Confirmation, Meconium
Detecting maternal prenatal opiate/opioid use up to 5 months before birth
EOSU1 - Overview: Eosinophils, Random, Urine
Investigation of possible acute interstitial nephritis
GNPLT - Overview: Platelet Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies
Evaluating hereditary platelet disorders in patients with a personal or family history suggestive of a hereditary platelet disorder Diagnosing hereditary platelet disorders for patients in whom phenotypic testing is nondiagnostic, but...
BALMF - Overview: B-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Specified FISH, Varies
Detecting a neoplastic clone associated with recurrent common chromosome abnormalities associated with B-cell acute lymphoblastic leukemia/lymphoma (B-ALL/LBL) and Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL)...
TSCP - Overview: Tuberous Sclerosis Gene Panel, Varies
Establishing a molecular diagnosis in individuals with features of tuberous sclerosis complex (TSC). Identifying pathogenic variants within the TSC1 and TSC2 genes known to be associated with TSC, allowing for predictive testing of at-risk...
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...
QUAD1 - Overview: Quad Screen (Second Trimester) Maternal, Serum
Prenatal screening for open neural tube defect (alpha-fetoprotein only), trisomy 21 (alpha-fetoprotein, human chorionic gonadotropin, estriol, and inhibin A) and trisomy 18 (alpha-fetoprotein, human chorionic gonadotropin, and estriol)
HLHGP - Overview: Primary Hemophagocytic Lymphohistiocytosis Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of familial hemophagocytic lymphohistiocytosis (F-HLH) Establishing a diagnosis of F-HLH, allowing for appropriate management and...
XCP - Overview: Hereditary Expanded Cancer Panel, Varies
Evaluating hereditary cancer in patients with a personal or family history suggestive of a hereditary cancer syndrome using a panel of 87 genes Establishing a diagnosis of a hereditary cancer syndrome allowing for targeted cancer...
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inborn error of immunity (IEI) associated with immune dysregulation or autoimmunity Establishing a diagnosis of an IEI, allowing...
ADALP - Overview: Adalimumab Quantitative with Antibody, Serum
Therapeutic drug monitoring of adalimumab concentration and antibody levels
QNKS - Overview: Natural Killer (NK)/Natural Killer T-Cell Subsets, Quantitative, Blood
Quantitation of the major natural killer (NK)-cell subsets relative to total NK cells (NK cell subsets) or total lymphocytes (NK T cells) Assessment in the following clinical contexts: HIV, primary immune deficiencies with NK cell...
IMSNP - Overview: Inherited Motor and Sensory Neuropathy Gene Panel, Varies
Establishing a molecular diagnosis for patients with hereditary motor and sensory neuropathy (HMSN) or Charcot-Marie-Tooth (CMT) disease Identifying variants within genes known to be associated with HMSN or CMT disease, allowing for...
MITOP - Overview: Mitochondrial Full Genome Analysis, Next-Generation Sequencing (NGS), Varies
Diagnosis of the subset of mitochondrial diseases that results from variants in the mitochondrial genome A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial disease-related genes were...
MPAGP - Overview: Methylmalonic Aciduria-Propionic Aciduria Combined Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of methylmalonic acidemia or propionic acidemia Establishing a molecular diagnosis for patients with methylmalonic acidemia or propionic acidemia Identifying variants within genes...
LIPOG - Overview: Lipodystrophy Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary lipodystrophy Establishing a diagnosis of a hereditary lipodystrophy
TOXGP - Overview: Toxoplasma gondii Antibody, IgG, Serum
Determining whether a patient has had previous exposure to or recent infection with Toxoplasma gondii This test is not useful for diagnosing infection in infants younger than 6 months of age. In that age group, IgG antibodies usually are...
VWD8B - Overview: von Willebrand Disease 2N (Subtype Normandy), Plasma
Diagnosing von Willebrand disease (VWD) type 2N Evaluating patients diagnosed with mild-to-moderate hemophilia A with an autosomal inheritance pattern Evaluating hemophilia A patients with a shortened survival of infused factor VIII...
TPMT3 - Overview: Thiopurine Methyltransferase Activity Profile, Erythrocytes
Detection of individuals with low thiopurine methyltransferase (TPMT) activity who are at risk for excessive myelosuppression or severe hematopoietic toxicity when taking thiopurine drugs Detection of individuals with hyperactive TPMT...
Predicting risk for statin-associated myopathy in patients beginning statin therapy, especially simvastatin therapy Determining a potential statin lipid lowering response, especially when using pravastatin
PTOX - Overview: Toxoplasma gondii, Molecular Detection, PCR, Varies
Supporting the diagnosis of acute cerebral, ocular, disseminated, or congenital toxoplasmosis This test should not be used to screen healthy patients.
JAK2P - Overview: JAK2 (9p24.1) Rearrangement, Hematologic Disorders, FISH, Tissue
Providing diagnostic information for hematologic malignancies Aiding in the determination of whether a targeted JAK2 inhibitor could be useful for therapy
Detecting IDH1 R132 and IDH2 R140 and R172 mutations in acute myeloid leukemia patients at the time of diagnosis to guide targeted therapy Monitoring minimal residual disease during the clinical and therapeutic course
LIVPR - Overview: Liver Profile, Serum
Screening for liver damage, especially if someone has a condition or is taking a drug that may affect the liver
ANA2 - Overview: Antinuclear Antibodies (ANA), Serum
Evaluating patients at-risk for antinuclear antibodies-associated systemic autoimmune rheumatic disease particularly systemic lupus erythematosus, Sjogren syndrome, and mixed connective tissue disease
ADAMP - Overview: ADAMTS13 Activity with Reflex Inhibitor Profile, Plasma
Assisting with the diagnosis of immune or acquired thrombotic thrombocytopenic purpura
BRCMG - Overview: Brucella Antibody Screen, IgM and IgG, ELISA, Serum
Evaluating patients with suspected brucellosis
Monitoring response to therapy in patients with known e1/a2 BCR/ABL1 (p190) fusion forms
MCRNA - Overview: Chlamydia trachomatis, Miscellaneous Sites, Nucleic Acid Amplification, Varies
Detecting Chlamydia trachomatis in non-US Food and Drug Administration-approved specimen types This test is not intended for use in medico-legal applications. This test is not useful for the detection of Chlamydia pneumoniae or other...
NMHR - Overview: N-Methylhistamine, Random, Urine
Screening for and monitoring of mastocytosis and disorders of systemic mast-cell activation, such as anaphylaxis and other forms of severe systemic allergic reactions using random urine specimens Monitoring therapeutic progress in...
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...
TGAB - Overview: Thyroglobulin Antibody, Serum
As an adjunct in the diagnosis of autoimmune thyroid diseases: Hashimoto disease, postpartum thyroiditis, neonatal hypothyroidism, and Graves disease
SERPZ - Overview: SERPINA1 Gene, Full Gene Analysis, Varies
Identification of causative mutations when a deficient serum level of alpha-1-antitrypsin is not explained by routine testing, such as proteotyping, genotyping, or isoelectric focusing phenotyping. Determining the specific allelic variant...
COCOU - Overview: Cortisol/Cortisone, Free, 24 Hour, Urine
Screening test for Cushing syndrome (hypercortisolism) Assisting in diagnosing acquired or inherited abnormalities of 11-beta-hydroxy steroid dehydrogenase (cortisol to cortisone ratio) Diagnosis of pseudo-hyperaldosteronism due to...
CAH2T - Overview: Congenital Adrenal Hyperplasia Newborn Screen, Blood Spot
Second-tier testing of newborns with abnormal screening result for congenital adrenal hyperplasia
CHF8 - Overview: Chromogenic Factor VIII Activity Assay, Plasma
Monitoring coagulation factor replacement therapy of selected extended half-life coagulation factor replacements Aiding in the diagnosis of hemophilia A using a 2-stage assay, especially when the 1-stage assay result was normal
DDITT - Overview: D-Dimer, Plasma
Excluding the diagnosis of acute pulmonary embolism or deep vein thrombosis, particularly when results of a sensitive D-dimer assay are combined with clinical information, including pretest disease probability(1-4) Diagnosis of...
DHEA_ - Overview: Dehydroepiandrosterone (DHEA), Serum
Diagnosing and differential diagnosis of hyperandrogenism (in conjunction with measurements of other sex steroids) As an initial screen in adults with bioavailable testosterone measurement that may be supplemented with measurements of sex...
KCSFP - Overview: Immunoglobulin Kappa Free Light Chain, Spinal Fluid
Diagnosis of multiple sclerosis and other demyelinating conditions
DDITF - Overview: Myxoid/Round Cell Liposarcoma, 12q13 (DDIT3 or CHOP) Rearrangement, FISH, Tissue
Aiding in the diagnosis of myxoid/round cell liposarcoma by detecting a neoplastic clone associated with gene rearrangement involving the DDIT3 (CHOP) gene region at 12q13
DSM5X - Overview: Drugs of Abuse Screen 5, Chain of Custody, Meconium
Identifying amphetamines (and methamphetamines), opiates, and phencyclidine, as well as metabolites of cocaine and marijuana in meconium specimens Chain of custody is required whenever the results of testing could be used in a court of...
DSM4X - Overview: Drugs of Abuse Screen 4, Chain of Custody, Meconium
Identifying amphetamines (and methamphetamines) and opiates, as well as metabolites of cocaine and marijuana in meconium specimen Chain of custody is required whenever the results of testing could be used in a court of law. Its purpose is...
Week in Review: February 3 - Insights
Include: President Biden to End Covid-19 Emergencies On May 11, and Children’s Minnesota Received $3 Million Grant To Address Pediatric Health Disparities....
Leveraging the Laboratory Archives - Page 3 of 3 - Insights
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Detection of (1→3)-𝝱-D-glucan as a Marker of Invasive Fungal Disease - Insights
In this month’s “Hot Topic,” Elitza Theel, Ph.D., will discuss the detection of (1→3)-β-D-glucan (BDG) in serum as a biomarker for the presence of invasive fungal infections....
Phlebotomy Modules: Module 3 | Insights
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Week in Review: March 3 - Insights
Today's Highlights Include: COVID-19 deaths remain low compared to previous winters, FDA authorizing first at-home combo flu/Covid test, and Rochester public schools evaluating mental health needs and services throughout the district.