Search Results
Test Catalog
HIVSS - Overview: HIV-1 and HIV-2 Antigen and Antibody Routine Screen, Serum
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.
CTSU - Overview: Ceramide Trihexosides and Sulfatides, Random, Urine
Identifying patients with Fabry disease Identifying patients with metachromatic leukodystrophy Identifying patients with saposin B deficiency Identifying patients with multiple sulfatase deficiency Identifying patients with...
CJDE - Overview: Creutzfeldt-Jakob Disease Evaluation, Spinal Fluid
Assessment of Creutzfeldt-Jakob disease or other human prion disease in patients with rapidly progressive dementia
CORTO - Overview: Cortisol, Free and Total, Serum
Assessment of cortisol status in cases where there is known or a suspected abnormality in cortisol-binding proteins or albumin Assessment of adrenal function in the critically ill or stressed patient, thus preventing unnecessary use of...
CRMP1 - Overview: Cardiovascular Risk Marker Panel, Serum
Assessment for risk of developing cardiovascular disease, major adverse cardiovascular events, or ischemic cerebrovascular events
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.
OLIGU - Overview: Oligosaccharide Screen, Random, Urine
Screening for selected oligosaccharidosis
PUPYU - Overview: Purines and Pyrimidines Panel, Random, Urine
Evaluating patients with symptoms suspicious for disorders of purine and pyrimidine metabolism Monitoring patients with disorders of purine and pyrimidine metabolism Laboratory evaluation of primary and secondary hyperuricemias
NGSFX - Overview: Reanalysis of Acute Myeloid Leukemia 4- or 11- Gene Panels, Additional Genes
Comprehensive reanalysis of a larger set of genes/gene regions when a more targeted gene panel was previously performed in this laboratory Evaluation of known or suspected hematologic neoplasms, specifically of myeloid origin (eg, acute...
PMARG - Overview: Postmortem Arrhythmia Gene Panel, Tissue
Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death suspicious for cardiac arrhythmia or with a personal or family history suggestive of a hereditary form of cardiac arrhythmia Identifying a...
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...
EOSMF - Overview: Chronic Eosinophilia, Specified FISH, Varies
Detecting a neoplastic clone associated with the common chromosome abnormalities seen in patients with myeloid/lymphoid neoplasms with eosinophilia and gene rearrangement (including PDGFRA, PDGFRB, FGFR1, JAK2, and ABL1) using specified...
CAH21 - Overview: Congenital Adrenal Hyperplasia (CAH) Profile for 21-Hydroxylase Deficiency, Serum
Preferred screening test for congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency Part of a battery of tests to evaluate women with hirsutism or infertility, which can result from adult-onset CAH
EOSDF - Overview: Chronic Eosinophilia, Diagnostic FISH, Varies
Detecting a neoplastic clone associated with the common chromosome abnormalities seen in patients with myeloid/lymphoid neoplasms with eosinophilia and gene rearrangement (including PDGFRA, PDGFRB, FGFR1, JAK2, and ABL1). Supporting the...
CHIDB - Overview: Chimerism-Donor, Varies
Evaluating the donor cells prior to bone marrow transplant Determining the relative amounts of donor and recipient cells in a specimen An indicator of bone marrow transplant success
CHRGB - Overview: Chimerism-Recipient Germline (Pretransplant), Varies
Evaluating the recipient cells prior to bone marrow transplant
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...
NGPCM - Overview: MayoComplete Plasma Cell Myeloma, Next-Generation Sequencing, Varies
Evaluating multiple myeloma at the time of diagnosis and at disease relapse or when changing clinical management to provide prognostic information and determine potential therapeutic implications
TLTE4 - Overview: Leukotriene E4, 24 Hour, Urine
Aiding in the evaluation of patients at-risk for mast cell activation syndrome (eg, systemic mastocytosis, IgE-mediated allergies, or aspirin-exacerbated respiratory disease) using 24-hour urine collections
MCMLN - Overview: MayoComplete Melanoma Panel, Next-Generation Sequencing, Tumor
Determining if patients will respond to targeted therapy Assessing microsatellite instability for immunotherapy decisions
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
TREGS - Overview: T-Cell Subsets, Regulatory (Tregs), Blood
Evaluating patients with clinical features of IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked inheritance) and other primary immunodeficiencies, autoimmune diseases, allergy and asthma, and graft-vs-host disease...
HTGR - Overview: Thyroglobulin, Tumor Marker Reflex, Serum
Reporting of accurate thyroglobulin results, depending on the antithyroglobulin antibodies status of the patient Accurate measurement of serum thyroglobulin in patients with known or suspected antithyroglobulin autoantibodies or possible...
SYPH1 - Overview: Syphilis IgG with Reflex, Enzyme Immunoassay, Serum
Aid for the diagnosis of infection with Treponema pallidum using an algorithmic approach Routine prenatal screening This test is not offered as a screening or confirmatory test for blood donor specimens. This test is not useful for...
TBNY - Overview: T, B and NK Lymphocyte Quantitation, New York, Blood
Only orderable by New York clients Serial monitoring of CD4 T-cell count in patients who are HIV-positive Follow-up and diagnostic evaluation of primary immunodeficiencies, including severe combined immunodeficiency Immune monitoring...
3A4Q - Overview: Cytochrome P450 3A4 Genotype, Varies
Aids in determining therapeutic strategies for drugs that are metabolized by cytochrome P450 3A4, including quetiapine This test is not useful for managing patients receiving fluvastatin, rosuvastatin, or pravastatin since these drugs are...
3A5Q - Overview: Cytochrome P450 3A5 Genotype, Varies
Aids in optimizing treatment with tacrolimus and other drugs metabolized by cytochrome P450 3A5
PADF - Overview: Prenatal Aneuploidy Detection, FISH
Screening for chromosomal aneuploidies of chromosomes 13, 18, 21, X, and Y in prenatal specimens
MP8BS - Overview: Mucopolysaccharidoses, Eight-Enzyme Panel, Blood Spot
Supporting the biochemical diagnosis of mucopolysaccharidoses types II, IIIA, IIIB, IIIC, IVA, IVB, VI, and VII, and of multiple sulfatase deficiency This test is not useful for carrier detection.
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...
Diagnosis of inflammatory demyelinating diseases (IDD) with similar phenotype to neuromyelitis optica (NMO) spectrum disorder (NMOSD), including optic neuritis (single or bilateral) and transverse myelitis Diagnosis of autoimmune myelin...
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
HFET - Overview: Hereditary Hemochromatosis, HFE Variant Analysis, Varies
Establishing or confirming the clinical diagnosis of hereditary hemochromatosis (HH) in adults Testing of individuals with increased serum transferrin-iron saturation and ferritin Predictive testing of individuals who have a family...
ESR1T - Overview: ESR1 Mutation Analysis, Next-Generation Sequencing, Tumor
Assisting in the clinical management of patients with metastatic breast cancer by identifying tumors with evolving resistance to endocrine therapy Stratifying prognosis of metastatic breast cancer
EGFRW - Overview: EGFR Targeted Mutation Analysis with ALK Reflex, Tumor
Identifying non-small cell lung cancers that may benefit from treatment with epidermal growth factor receptor -targeted therapies or anaplastic lymphoma kinase inhibitors
MUGS - Overview: Hexosaminidase A, Serum
Second-order test for diagnosing the B1 variant of Tay-Sachs disease This test is not useful for testing for Sandhoff disease.
AAQP - Overview: Amino Acids, Quantitative, Plasma
Evaluating patients with possible inborn errors of metabolism using plasma specimens May aid in evaluation of endocrine disorders, liver diseases, muscle diseases, neoplastic diseases, neurological disorders, nutritional disturbances,...
NONCM - Overview: Neuro-Oncology Gene Panel, Mutations Only, Tumor
Identifying mutations that may support a diagnosis or help determine prognosis for patients with central nervous system tumors Identifying specific mutations within genes known to be associated with response or resistance to specific...
HIVDS - Overview: HIV-1 and HIV-2 Antigen and Antibody Diagnostic Evaluation, Serum
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...
HCCGS - Overview: Hepatocellular Carcinoma Risk Panel with GALAD Score, Serum
Risk assessment for development of hepatocellular carcinoma in patients with chronic liver disease
H2BR - Overview: HER2 Amplification Associated with Breast Cancer, FISH, Tissue
A predictive marker for patients with both node-positive or node-negative primary and metastatic breast cancer Patients with HER2 amplification that may be candidates for therapies targeting the human epidermal growth factor receptor 2...
HBPES - Overview: Hepatitis B Virus Past Exposure Panel, Serum
Screening for past exposure to hepatitis B virus (HBV) Determining HBV infection and immunity status prior to initiating chemotherapy or other immunosuppressive agents
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...
RETZZ - Overview: Multiple Endocrine Neoplasia Type 2 Syndrome, RET, Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of a multiple endocrine neoplasia type 2 (MEN2) or Hirschsprung disease (HSCR) Establishing a diagnosis of MEN2 or HSCR allowing for targeted cancer surveillance based on...
PWAS - Overview: Prader-Willi/Angelman Syndrome, Molecular Analysis, Varies
Confirmation of diagnosis in patients suspected of having either Prader-Willi syndrome (PWS) or Angelman syndrome (AS) based on clinical assessment or previous laboratory analysis Prenatal diagnosis in families at risk for PWS or AS
TBBS - Overview: Quantitative Lymphocyte Subsets: T, B, and Natural Killer (NK) Cells, Blood
Serial monitoring of CD4 T-cell count in patients who are HIV-positive Follow-up and diagnostic evaluation of primary immunodeficiencies, including severe combined immunodeficiency Immune monitoring following immunosuppressive therapy...
PMCAG - Overview: Postmortem Cardiomyopathy and Arrhythmia Gene Panel, Tissue
Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death attributed to cardiomyopathy or suspicious for cardiac arrhythmia or with a personal or family history suggestive of a hereditary form of...
Detecting a neoplastic clone associated with Philadelphia chromosome-like acute lymphoblastic leukemia (ALL), particularly when a classic abnormality is not detected with the initial panel An adjunct to conventional chromosome studies in...
FIBRO - Overview: FibroTest-ActiTest, Serum
Evaluating hepatic fibrosis in chronic hepatitis C patients Diagnosing fibrosis in carriers of chronic hepatitis B virus Evaluating hepatic fibrosis in co-infected HIV carriers Providing access to new-generation non-interferon...
WNDZ - Overview: Wilson Disease, ATP7B Full Gene Sequencing with Deletion/Duplication, Varies
Confirming the diagnosis of Wilson disease
Site Search
February 2020 - Laboratory Genetics & Genomics - Insights
A 71 yr old female with a history of a central nervous system lymphoma, an allogenic stem cell transplant and graft versus host disease was tested for...
inflammatory-bowel-disease-diagnostic-testing-algorithm.pdf
YES <50 mcg/g <50 mcg/g Abnormal >50 mcg/g Normal ANCA present ASCA IgG and IgA absent ANCA absent ASCA IgG or IgA present ANCA absent ASCA IgG or IgA absent >120 mcg/g50-120 mcg/g NO Assessing a patient...
Find out how our sarcoma panel assesses gene mutations and fusions described in more than 50 types of soft tissue, bone, and other mesenchymal tumors....
July 2019 — Cardiovascular - Insights
A 50-year-old man who was known to have systemic hypertension developed sudden onset of severe back pain with associated diaphoresis. He lost...
Mayo Clinic’s Neuro-Oncology practice, the Division of Laboratory Genetics and Genomics tests about 50 brain tumors a week, and upwards of 1,500 brain tumors a year from all over the world....