Test Catalog Search Results
PSYR - Overview: Psychosine, Whole Blood
Aiding in the biochemical diagnosis of Krabbe disease using whole blood specimens Follow-up of individuals affected with Krabbe disease Follow-up testing after an abnormal newborn screening result for Krabbe disease Monitoring of...
MHRP - Overview: Metamycoplasma hominis, Molecular Detection, PCR, Varies
Rapid, sensitive, and specific identification of Metamycoplasma hominis from synovial fluid, genitourinary, reproductive, lower respiratory sources, pleural/chest fluid, pericardial fluid, and wound specimens This test is not intended for...
NSAI - Overview: Neurosyphilis IgG, Antibody Index, Spinal Fluid
Aid in the diagnosis of neuroinvasive syphilis as part of a profile
PMMIL - Overview: Phosphomannomutase and Phosphomannose Isomerase, Leukocytes
Diagnosing congenital disorders of glycosylation Ia (phosphomannomutase-2 deficiency: PMM2-CDG) and Ib (phosphomannose isomerase deficiency: MPI-CDG) as measured in leukocytes Follow-up testing for patients with an abnormal type I CDG...
SZMON - Overview: Sezary Monitoring Flow Cytometry, Blood
Monitoring response to therapy in patients with previously diagnosed Sezary syndrome or mycosis fungoides
CALR - Overview: CALR Mutation Analysis, Myeloproliferative Neoplasm (MPN), Varies
Rapid and sensitive detection of insertion and deletion-type mutations in exon 9 of CALR Aiding in distinguishing between reactive thrombocytosis and leukocytosis versus a myeloproliferative neoplasm (MPN), especially essential...
ETV6F - Overview: ETV6 (12p13.2) Rearrangement, FISH, Tissue
Detection of ETV6 rearrangements irrespective of the ETV6 fusion partner gene Supporting the diagnosis of many neoplasms including, but not limited to, mammary analogue secretory carcinoma, secretory carcinoma of the breast, and infantile...
Producing cell cultures that can be used for enzymatic or molecular genetic analysis
FAO - Overview: Fatty Acid Oxidation Probe Assay, Fibroblast Culture
In vitro confirmation of biochemical diagnoses of the following fatty acid oxidation disorders: -Short-chain acyl-CoA dehydrogenase deficiency -Medium-chain acyl-CoA dehydrogenase deficiency -Long-chain 3-hydroxyacyl-CoA dehydrogenase...
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)
GALCW - Overview: Galactocerebrosidase, Leukocytes
Diagnosis of Krabbe disease Follow-up testing for evaluation of an abnormal newborn screening result for Krabbe disease This test is not intended for carrier detection.
KITQ - Overview: KIT p.Asp816Val Variant Analysis, Quantitative, Varies
Diagnosing systemic mastocytosis
MRSAP - Overview: Methicillin Resistant Staphylococcus aureus, PCR, Nasal
Rapid screening test for Staphylococcus aureus nasal carriage that, if positive, indicates whether the S aureus is methicillin susceptible or resistant This test should not be used to guide or monitor treatment for methicillin-resistant S...
MYCO - Overview: Mycoplasma pneumoniae Antibodies, IgG and IgM, Serum
Screening for recent or past exposure to Mycoplasma pneumoniae This test should not be used as a screening procedure for the general population.
MLHPB - Overview: MLH1 Hypermethylation Analysis, Blood
As an adjunct to positive hypermethylation in tumor to distinguish between somatic and germline hypermethylation As an adjunct to negative MLH1 germline testing in cases where colon or endometrial tumor demonstrates microsatellite...
URRP - Overview: Ureaplasma species, Molecular Detection, PCR, Varies
Rapid, sensitive, and specific identification of Ureaplasma urealyticum and Ureaplasma parvum from genitourinary, reproductive, bone, spine, joint, and lower respiratory sources This test is not intended for medicolegal use.
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
TPRPS - Overview: ThinPrep Screen, Varies
Screening for cervical carcinoma or intraepithelial lesions
TPRPD - Overview: ThinPrep Diagnostic, Varies
Detecting cervical carcinoma or intraepithelial lesions when screening women for possible cervical neoplasia
WNC - Overview: West Nile Virus Antibody, IgG and IgM, Spinal Fluid
Aiding in diagnosis of central nervous system infection with West Nile virus
CIB - Overview: Cutaneous Direct Immunofluorescence Assay, Varies
Confirming a diagnosis of bullous pemphigoid, cicatricial pemphigoid, pemphigoid gestationis and other variants of pemphigoid, all types of pemphigus, including paraneoplastic pemphigus (paraneoplastic multiorgan syndrome), dermatitis...
SMPU - Overview: Monoclonal Protein Screen, 24 Hour, Urine
Monitoring patients with monoclonal gammopathies
NTRK - Overview: NTRK Gene Fusion Panel, Tumor
Identifying solid tumors that may respond to targeted therapies by simultaneously assessing for fusions involving targeted regions of the NTRK1, NTRK2, and NTRK3 genes resulting in fusion transcripts. This test is not useful for...
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...
WESMT - Overview: Whole Exome and Mitochondrial Genome Sequencing, Varies
Serving as a first-tier test to identify a molecular and/or mitochondrial diagnosis in patients with suspected genetic disorders, which can allow for: -Better understanding of the natural history/prognosis -Targeted management (anticipatory...
ASUOE - Overview: Arsenic Occupational Exposure, with Reflex, Random, Urine
Preferred screening test for detection of occupational exposure to arsenic in random urine specimens
CMAMT - Overview: Chromosomal Microarray, Autopsy/Products of Conception/Stillbirth, Tissue
Diagnosis of congenital copy number changes in products of conception, including aneuploidy (ie, trisomy or monosomy) and structural abnormalities Diagnosing chromosomal causes for fetal death Determining recurrence risk of future...
HV1CD - Overview: HIV-1 and HIV-2 Antibodies for Cadaveric or Hemolyzed Specimens, Serum
Diagnosing HIV-1 and/or HIV-2 infection in cadaveric or hemolyzed serum specimens from symptomatic patients with or without risk factors for HIV infection This test is not offered as a screening or confirmatory test for blood donor...
MPS2Z - Overview: Hunter Syndrome, Full Gene Analysis, Varies
Confirmation of a diagnosis of mucopolysaccharidosis type II (Hunter syndrome) Carrier testing when there is a family history of mucopolysaccharidosis type II (Hunter syndrome), but disease-causing variants have not been previously...
CHRHB - Overview: Chromosome Analysis, Hematologic Disorders, Blood
Assisting in the classification and follow-up of certain malignant hematological disorders when bone marrow is not available This test is not useful for congenital disorders.
HV1CM - Overview: HIV-1 and HIV-2 Antibody Screen for Hemolyzed Specimens, Serum
Screening cadaveric or hemolyzed serum specimens for HIV-1 and/or HIV-2 infection in nonsymptomatic patients with or without risk factors for HIV infection This test is not offered as a screening or confirmatory test for blood donor...
GPSY - Overview: Glucopsychosine, Blood Spot
Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified Diagnosis and monitoring of patients with Gaucher disease using dried blood spot specimens Monitoring a patient's response to...
Evaluation of patients with an abnormal newborn screen showing elevations of glutarylcarnitine (C5-DC) using dried blood spot specimens Evaluation of patients with abnormal newborn screens showing elevations of C4-acylcarnitine to aid in...
MCADZ - Overview: Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency Full Gene Analysis, Varies
Confirmation of diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (as a follow-up to biochemical analyses) Screening of at-risk carriers of MCAD deficiency when an affected relative has not had molecular testing Diagnosis...
BRMLH - Overview: MLH1 Hypermethylation and BRAF Mutation Analysis, Tumor
An adjunct to MSI / Microsatellite Instability (MSI), Tumor and IHC / Mismatch Repair (MMR) Protein Immunohistochemistry Only, Tumor testing, when colon tumor demonstrates microsatellite instability (MSI-H) and loss of MLH1 protein...
PNBX - Overview: Peripheral Nerve Pathology Consultation
Evaluating diseases of the nerve and disorders that affect nerve function
UBA1Q - Overview: UBA1 Mutation Quantitative Detection, VEXAS syndrome, Droplet Digital PCR, Varies
Identification of pathogenic variant(s) in the UBA1 gene in patients presenting with symptoms concerning for or consistent with VEXAS syndrome
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
TERTD - Overview: TERT Promoter Mutation Analysis, Droplet Digital PCR, Tumor
Identifying specific mutations within the TERT promoter that assist in tumor diagnosis/classification
NONCR - Overview: Neuro-Oncology Gene Panel, Rearrangements Only, Tumor
Identifying rearrangements that may support a diagnosis or help determine prognosis for patients with central nervous system tumors Identifying rearrangements within genes known to be associated with response or resistance to specific...
ML1HM - Overview: MLH1 Hypermethylation Analysis, Tumor
An adjunct to tumor microsatellite instability and mismatch repair protein immunohistochemistry testing when colon or endometrial tumor demonstrates microsatellite instability (MSI-H) and loss of MLH1 protein expression to help distinguish...
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
2HGA - Overview: 2-Hydroxyglutaric Acid Chiral Analysis, Quantitative, Random, Urine
Determining type of 2-hydroxyglutaric aciduria by chiral analysis of urine
XALDZ - Overview: X-Linked Adrenoleukodystrophy, Full Gene Analysis, Varies
Confirming a diagnosis of X-linked adrenoleukodystrophy Identifying a variant in the ABCD1 gene
EPCRB - Overview: Ehrlichia/Anaplasma, Molecular Detection, PCR, Blood
Evaluating patients suspected of acute anaplasmosis or ehrlichiosis This test should not be used for screening asymptomatic individuals.
MAMLF - Overview: MAML2 (11q21) Rearrangement, Mucoepidermoid Carcinoma (MEC), FISH, Tissue
Identifying MAML2 rearrangements Supporting the diagnosis of mucoepidermoid carcinoma when used in conjunction with an anatomic pathology consultation
CHRCV - Overview: Chromosome Analysis, Chorionic Villus Sampling
Prenatal diagnosis of chromosome abnormalities, including aneuploidy (ie, trisomy or monosomy) and balanced rearrangements This test is not appropriate as a first-tier test for detecting gains or losses of chromosomal material in...
NGAML - Overview: MayoComplete Acute Myeloid Leukemia, 11-Gene Panel, Varies
Evaluation of acute myeloid leukemia using a focused 11-gene panel at the time of diagnosis, or possibly at the time of relapsed/refractory disease, to help guide classification and possible therapeutic approaches
RPCWT - Overview: Renal Pathology Consultation, Wet Tissue
Evaluating and managing patients with kidney disease Following the progression of known kidney disease or response to therapy Determining the cause of dysfunction in the transplanted kidney (allograft)