Search Results
Test Catalog
NPM1Q - Overview: Nucleophosmin (NPM1) Mutation Analysis, Varies
As a prognostic indicator in patients with newly diagnosed acute myelogenous leukemia with normal karyotype and no FLT3 variant and as a leukemia-specific marker of minimal residual disease
ORXNA - Overview: Orexin-A/Hypocretin-1, Spinal Fluid
Aiding in the diagnosis and differentiation of type 1 narcolepsy from other causes of hypersomnolence This assay is not intended for use as a screening test.
NUT1F - Overview: NUTM1 (15q14) Rearrangement, FISH, Tissue
Identifying NUTM1 gene rearrangements in patients with nuclear protein in testis midline carcinoma to aid in confirming or excluding the diagnosis
Aiding in risk assessment of patients with clinical signs and symptoms consistent with development of preeclampsia with severe features This test is not intended for making a diagnosis of preeclampsia or preeclampsia with severe...
Confirming the diagnosis of dermatofibrosarcoma protuberans (DFSP)/giant cell fibroblastoma (GCF) and excluding other spindle neoplasms that closely simulate the DFSP histology, including dermatofibroma (benign fibrous histiocytoma),...
PN10X - Overview: Pain Clinic Survey 10, Chain of Custody, Random, Urine
Detecting drug use involving amphetamines, barbiturates, benzodiazepines, cocaine, methadone, opiates, phencyclidine, and carboxy-tetrahydrocannabinol This chain-of-custody test is intended to be used in a setting where the test results...
POWVS - Overview: Powassan Virus, RNA, Molecular Detection, PCR, Serum
Rapid testing for Powassan virus RNA (lineage 1 and lineage 2) using serum 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 used for...
PNYG - Overview: Phenytoin, Total and Phenobarbital Group, Serum
Monitoring for appropriate therapeutic concentration of phenytoin and phenobarbital Assessing compliance or toxicity
STFRP - Overview: Shiga Toxin, Molecular Detection, PCR, Feces
Sensitive, specific, and rapid detection of the presence of Shiga toxin-producing organisms such as Escherichia coli O157:H7 and Shigella dysenteriae type 1 in stool This test is not recommended as a test of cure.
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...
CCFR - Overview: Cortisol/Cortisone, Free, Random, Urine
Investigating suspected Cushing syndrome (hypercortisolism), when a 24-hour collection is prohibitive (ie, pediatric patients) Assisting in diagnosing acquired or inherited abnormalities of 11-beta-hydroxy steroid dehydrogenase (cortisol...
CAH2T - Overview: Congenital Adrenal Hyperplasia Newborn Screen, Blood Spot
Second-tier testing of newborns with abnormal screening result for congenital adrenal hyperplasia
8INHE - Overview: Factor VIII Inhibitor Evaluation, Plasma
Detecting the presence and titer of a specific factor inhibitor directed against coagulation factor VIII This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a nonspecific circulating...
Producing cell cultures that can be used for enzymatic or molecular genetic analysis
FGEN - Overview: Fungal Culture, Routine
Diagnosing fungal infections from specimens other than blood, skin, hair, nails, and vagina (separate tests are available for these specimen sites)
XYMF - Overview: Known 45,X, Mosaicism Reflex Analysis, FISH, Whole Blood
Detecting sex chromosome mosaicism in patients with a 45,X karyotype
KITQ - Overview: KIT p.Asp816Val Variant Analysis, Quantitative, Varies
Diagnosing systemic mastocytosis
Supporting the diagnosis of low-grade fibromyxoid sarcoma when used in conjunction with an anatomic pathology consultation
SGTF - Overview: MYB (6q23) Rearrangement FISH, Tissue
Assessing for MYB gene rearrangements in patients with primary salivary gland carcinoma to aid in confirming or excluding the diagnosis of primary salivary gland adenoid cystic carcinomas
USPF - Overview: USP6 (17p13), Aneurysmal Bone Cyst and Nodular Fasciitis, FISH, Tissue
Supporting the diagnosis of aneurysmal bone cyst or nodular fasciitis
SEMB - Overview: Semen Analysis with Strict Morphology, Semen
Determining male fertility status Selecting the most cost-effective therapy for treating male-factor infertility Quantifying the number of germinal and white blood cells per milliliter of semen
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
TOPSU - Overview: Targeted Opioid Screen, Random, Urine
Qualitatively (present vs not detected) identifying 33 opioid compounds (parent drug and metabolites) in urine to help determine compliance or identify illicit opioid drug use This test is not intended for use in employment-related...
SP100 - Overview: SP100 Antibody, IgG, Serum
Evaluating the risk of primary biliary cholangitis in anti-mitochondrial antibody (AMA) negative patients by identification of Sp100 antibodies Estimating risk in AMA-positive patients with incomplete feature of disease
TBPZA - Overview: Susceptibility, Mycobacterium tuberculosis Complex, Pyrazinamide, Varies
Susceptibility testing of Mycobacterium tuberculosis complex isolates growing in pure culture against pyrazinamide This test is not useful for Mycobacterium bovis and Myocobacterium bovis bacille Calmette-Guerin (BCG) isolates as they are...
TOSU - Overview: Targeted Opioid Screen, Random, Urine
Determining compliance or identifying illicit opioid drug use using urine specimens This test is not intended for employment-related testing.
WGSDX - Overview: Whole Genome Sequencing for Hereditary Disorders, Varies
Serving as a first-tier test to identify a molecular diagnosis in patients with suspected genetic disorders, which can allow for: -Better understanding of the natural history/prognosis -Targeted management (anticipatory guidance, management...
APGH - Overview: Alpha-Subunit Pituitary Tumor Marker, Serum
Adjunct in the diagnosis of pituitary tumors As part of the follow-up of treated pituitary tumor patients Differential diagnosis of thyrotropin-secreting pituitary tumor versus thyroid hormone resistance Differential diagnosis of...
ARSAW - Overview: Arylsulfatase A, Leukocytes
Preferred enzymatic test for detection of arylsulfatase A deficiency This test is not suitable for carrier detection.
GAL1P - Overview: Galactose-1-Phosphate, Erythrocytes
Monitoring dietary therapy of patients with galactosemia due to deficiency of galactose-1-phosphate uridyltransferase or uridine diphosphate galactose-4-epimerase
GAES - Overview: Ganglioside Antibodies Evaluation, Serum
Supporting the diagnosis of an autoimmune neuropathy
NAT2Q - Overview: N-Acetyltransferase 2 (NAT2) Genotype, Varies
Identifying patients who may be at risk for altered metabolism of drugs that are substrates of arylamine N-acetyltransferase type 2, including isoniazid
PMPDD - Overview: PMP22 Gene, Large Deletion/Duplication Analysis, Varies
Diagnosis of Charcot-Marie-Tooth type 1A or hereditary neuropathy with liability to pressure palsies
FQPPS - Overview: Porphyrins, Feces
Evaluation of patients who present with signs or symptoms suggestive of porphyria cutanea tarda, hereditary coproporphyria, variegate porphyria, congenital erythropoietic porphyria, erythropoietic protoporphyria, or X-linked dominant...
RPDEI - Overview: Rapidly Progressive Dementia Evaluation Interpretation, Spinal Fluid
Interpretation of the Rapidly Progressive Dementia Evaluation
RRPRS - Overview: Rapid Plasma Reagin Screen with Reflex to Titer, Serum
Aid for the diagnosis of infection with Treponema pallidum Rapid plasma reagin testing following a positive treponemal antibody test This test is not useful as a screening or confirmatory test for blood donor specimens.
CDAU7 - Overview: Drug Abuse Survey with Confirmation, Panel 9, Random, Urine
Detecting drug abuse involving, amphetamines, barbiturates, benzodiazepines, cocaine, ethanol, methadone, opiates, phencyclidine, and tetrahydrocannabinol This test is intended to be used in a setting where the test results can be used...
XL2T - Overview: FOXL2 Mutation Analysis, Next-Generation Sequencing, Tumor
Assisting in the clinical diagnosis of adult granulosa cell tumor by assessing gene targets with in the FOXL2 gene
Risk stratification of patients with treated multiple myeloma, which can assist in determining treatment and management decisions Risk stratification of patients with newly diagnosed multiple myeloma
MPS3B - Overview: Mucopolysaccharidosis III, Three-Enzyme Panel, Blood Spot
Supporting the biochemical diagnosis of mucopolysaccharidoses types IIIA, IIIB, IIIC This test is not useful for carrier detection.
MSH6 - Overview: MSH6 Immunostain, Technical Component Only
Identifying patients at high risk for having hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome, in an immunopanel including MSH6 and other mismatch repair markers Evaluation of tumor tissue to identify patients at...
MSH2 - Overview: MSH2 Immunostain, Technical Component Only
Identifying patients at high risk for having hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome, in an immunopanel including MSH2 and other mismatch repair markers Evaluation of tumor tissue to identify patients at...
MSTF - Overview: Myeloid Sarcoma, FISH, Tissue
Supporting the diagnosis of myeloid sarcoma when coordinated with a surgical pathology consultation
TGMS - Overview: Thyroglobulin Mass Spectrometry, Serum
Accurate measurement of serum thyroglobulin (Tg) in patients with known or suspected antithyroglobulin autoantibodies (TgAb) or heterophile antibodies (HAb) Reflex testing of samples with previously unknown TgAb status that prove TgAb...
SS18F - Overview: Synovial Sarcoma (SS), 18q11.2 (SS18 or SYT) Rearrangement, FISH, Tissue
Supporting the diagnosis of synovial sarcoma when used in conjunction with an anatomic pathology consultation
SER - Overview: Serotonin, Serum
In conjunction with, or as an alternative to, first-order tests in the differential diagnosis of isolated symptoms suggestive of carcinoid syndrome, in particular flushing (5-hydroxyindoleacetic acid or serum chromogranin A measurements are...
SAU - Overview: Sialic Acid, Free and Total, Random, Urine
Screening for sialic acid disorders
VEDOZ - Overview: Vedolizumab Quantitation with Antibodies, Serum
Assessing for primary or secondary loss of response to therapy with vedolizumab An aid to achieving desired serum concentrations of vedolizumab
2C9QT - Overview: Cytochrome P450 2C9 Genotype, Varies
Identifying individuals who may be at risk for altered metabolism of drugs that are modified by cytochrome P450 2C9
2C19R - Overview: Cytochrome P450 2C19 Genotype, Varies
Identifying patients who may be at risk for altered metabolism of drugs that are modified by cytochrome P450 2C19 Predicting anticoagulation response to clopidogrel
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....