AATTF - Overview: Antithrombin Activity, with Reflex to Antithrombin Antigen, Plasma

Diagnosis of antithrombin deficiency, acquired or congenital

MPQU - Overview: Monoclonal Protein Quantitation, 24 Hour, Urine

Monitoring patients with monoclonal gammopathies using 24-hour urine collections

MSTF - Overview: Myeloid Sarcoma, FISH, Tissue

Supporting the diagnosis of myeloid sarcoma when coordinated with a surgical pathology consultation

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...

NR4A3 - Overview: NR4A3 (9q22.33) Rearrangement, FISH, Tissue

Identifying NR4A3 gene rearrangements Supporting the diagnosis of extraskeletal myxoid chondrosarcoma or acinic cell carcinoma when used in conjunction with an anatomic pathology consultation

PEE - Overview: Porphyrins Evaluation, Whole Blood

Establishing a biochemical diagnosis of erythropoietic protoporphyria and X-linked dominant protoporphyria

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...

CMAPT - Overview: Chromosomal Microarray, Tumor, Formalin-Fixed Paraffin-Embedded

Genomic characterization of tumor for copy number imbalances and loss of heterozygosity Assisting in the diagnosis and classification of malignant neoplasms Evaluating the prognosis for patients with malignant tumors

ADNA1 - Overview: Double-Stranded DNA (dsDNA) Antibodies, IgG, Serum

Evaluating patients with clinical features or at-risk for systemic lupus erythematosus (SLE) Monitoring disease activity, as an adjunct test, in patients with SLE previously positive for double-stranded DNA IgG antibodies

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.

EBVAB - Overview: Epstein-Barr Virus Antibody Profile, Serum

Diagnosis of Epstein-Barr virus (EBV) infectious mononucleosis or other EBV related infections Identification of prior EBV infection as part of pre-immunosuppression screening This assay is not intended for viral isolation or...

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...

P53CA - Overview: Hematologic Neoplasms, TP53 Somatic Mutation, DNA Sequencing Exons 4-9, Varies

Evaluating chronic lymphocytic leukemia patients at diagnosis or during disease course for the presence of TP53 gene variants indicating high risk of disease progression and adverse outcomes This test is not intended for the evaluation of...

NSAI - Overview: Neurosyphilis IgG, Antibody Index, Spinal Fluid

Aid in the diagnosis of neuroinvasive syphilis as part of a profile

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...

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...

PVJAK - Overview: Polycythemia Vera, JAK2 V617F with Reflex to JAK2 Exon 12-15, Sequencing for Erythrocytosis, Varies

Aiding in the distinction between the myeloproliferative neoplasm polycythemia vera and other secondary erythrocytosis

PQNRU - Overview: Porphyrins, Quantitative, Random, Urine

Preferred test to begin assessment for congenital erythropoietic porphyria and porphyria cutanea tarda and during symptomatic periods for acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria when specimen...

21DOC - Overview: 21-Deoxycortisol, Serum

As an adjunct to measurement of 17-hydroxyprogesterone, androstenedione, and cortisol in the diagnosis of difficult cases of suspected 21-hydroxylase (CYP21A2) deficiency Identifying heterozygote CYP21A2 deficiency carriers As an adjunct...

VWACT - Overview: von Willebrand Factor Activity, Plasma

Diagnosis of von Willebrand disease (VWD) and differentiation of VWD subtypes or differentiation of VWD from hemophilia A Monitoring therapeutic efficacy of treatment with DDAVP (desmopressin) or VWF concentrates in patients with VWD

XALDZ - Overview: X-Linked Adrenoleukodystrophy, Full Gene Analysis, Varies

Confirming a diagnosis of X-linked adrenoleukodystrophy Identifying a variant in the ABCD1 gene

HIQNP - Overview: HIV-1 RNA Detection and Quantification, Prenatal, Plasma

Diagnosis of HIV-1 infection in pregnant individuals with acute or early HIV-1 infection Quantifying plasma HIV-1 RNA levels (viral load) in pregnant individuals living with HIV-1: -Before initiating anti-HIV-1 drug therapy (baseline viral...

PSHIV - Overview: HIV-1 RNA Patient Source, Plasma

Detection and diagnosis of HIV-1 infection in an acutely or early infected individual (including infants of <2 years of age) who is the source of blood or body fluid in an occupational exposure event

POX - Overview: Fatty Acid Profile, Peroxisomal (C22-C26), Serum

Evaluating patients with possible peroxisomal disorders, single-enzyme defects of peroxisomal metabolism, such as X-linked adrenoleukodystrophy or peroxisomal biogenesis disorders (Zellweger syndrome spectrum) using serum specimens Aiding...

POXP - Overview: Fatty Acid Profile, Peroxisomal (C22-C26), Plasma

Evaluating patients with possible peroxisomal disorders, including peroxisomal biogenesis disorders, X-linked adrenoleukodystrophy, and Refsum disease using plasma specimens Aiding in the assessment of peroxisomal function

BAKDM - Overview: BCR/ABL1, Tyrosine Kinase Inhibitor Resistance, Kinase Domain Mutation Screen, Sanger Sequencing, Varies

Evaluating patients with chronic myelogenous leukemia and Philadelphia chromosome positive B-cell acute lymphoblastic leukemia receiving tyrosine kinase inhibitor (TKI) therapy, who are apparently failing treatment Preferred initial test...

SHBG1 - Overview: Sex Hormone-Binding Globulin, Serum

Diagnosis and follow-up of women with signs or symptoms of androgen excess (eg, polycystic ovarian syndrome and idiopathic hirsutism) An adjunct in monitoring sex-steroid and antiandrogen therapy An adjunct in the diagnosis of disorders...

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

LCAF - Overview: Lung Cancer, ALK (2p23) Rearrangement, FISH, Tissue

Identifying patients with non-small cell lung carcinoma who may benefit from treatment with directed tyrosine kinase inhibitors

CTB - Overview: Mycobacteria and Nocardia Culture, Varies

Detection and identification of Mycobacterium species, Nocardia species, and other aerobic actinomycetes

FB12 - Overview: Vitamin B12 and Folate, Serum

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

ACASM - Overview: Pernicious Anemia Cascade, Serum

Diagnosis of pernicious anemia Diagnosis of vitamin B12 deficiency-associated neuropathy

GAST - Overview: Gastrin, Serum

Investigation of patients with achlorhydria or pernicious anemia Investigation of patients suspected of having Zollinger-Ellison syndrome Diagnosis of gastrinoma

HIVQN - Overview: HIV-1 RNA Detection and Quantification, Plasma

Quantifying plasma HIV-1 RNA levels (viral load) in individuals living with HIV-1: -Before initiating antiretroviral therapy to obtain baseline viral load -Who may have developed HIV-1 drug resistance while on antiretroviral therapy -Who...

GCT - Overview: Galactosemia Reflex, Blood

Preferred test for diagnosis, carrier detection, and determination of genotype of galactose-1-phosphate uridyltransferase deficiency, the most common cause of galactosemia Differentiating Duarte variant galactosemia from classic...

GBAZ - Overview: Gaucher Disease, Full Gene Analysis, Varies

Confirmation of a diagnosis of Gaucher disease Carrier screening in cases where there is a family history of Gaucher disease, but an affected individual is not available for testing or disease-causing alterations have not been identified

WBSEQ - Overview: Beta Globin Gene Sequencing, Varies

Diagnosis of beta thalassemia intermedia or major Identification of a specific beta thalassemia sequence variant (ie, unusually severe beta thalassemia trait) Evaluation of an abnormal hemoglobin electrophoresis identifying a rare...

MPNR - Overview: Myeloproliferative Neoplasm, JAK2 V617F with Reflex to CALR and MPL, Varies

Aiding in the distinction between a reactive cytosis and a chronic myeloproliferative disorder Evaluating for variants in JAK2, CALR, and MPL genes in an algorithmic process

MTBRP - Overview: Mycobacterium tuberculosis Complex, Molecular Detection, PCR, Varies

Rapid detection of Mycobacterium tuberculosis complex DNA (preferred method) Detection of M tuberculosis, when used in conjunction with mycobacterial culture This test does not assess M tuberculosis rifampin resistance. This test...

CHRCB - Overview: Chromosome Analysis, Congenital Disorders, Blood

Diagnosis of congenital chromosome abnormalities, including aneuploidy, structural abnormalities, and balanced rearrangements

MDM2F - Overview: MDM2 (12q15) Amplification, Well-Differentiated Liposarcoma/Atypical Lipomatous Tumor, FISH, Tissue

Identifying MDM2 amplification Supporting the diagnosis of many neoplasms, including, but not limited to, well-differentiated liposarcoma, atypical lipomatous tumor, dedifferentiated liposarcoma, parosteal osteosarcoma and central...

25HDN - Overview: 25-Hydroxyvitamin D2 and D3, Serum

Diagnosis of vitamin D deficiency Differential diagnosis of causes of rickets and osteomalacia Monitoring vitamin D replacement therapy Diagnosis of hypervitaminosis D

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...

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...

CRMP1 - Overview: Cardiovascular Risk Marker Panel, Serum

Assessment for risk of developing cardiovascular disease, major adverse cardiovascular events, or ischemic cerebrovascular events

MCGYN - Overview: MayoComplete Gynecological Cancer Panel, Next-Generation Sequencing, Tumor

Predicting patients' prognosis and response to targeted therapy Assessment of microsatellite instability for immunotherapy decisions

MSP3 - Overview: Multiple Sclerosis (MS) Cascade, Serum and Spinal Fluid

Diagnosing multiple sclerosis, especially helpful in patients with equivocal clinical or radiological findings

CHRBM - Overview: Chromosome Analysis, Hematologic Disorders, Bone Marrow

Assisting in the diagnosis and classification of certain malignant hematological disorders in bone marrow specimens Evaluating the prognosis in patients with certain malignant hematologic disorders Monitoring effects of treatment...

COGBM - Overview: Chromosome Analysis, Hematologic Disorders, Children's Oncology Group Enrollment Testing, Bone Marrow

Evaluation of pediatric bone marrow specimens for chromosomal abnormalities associated with hematologic malignancies for diagnostic and prognostic purposes in patients being considered for enrollment in Children's Oncology Group clinical...

BRBPS - Overview: Broad Range Bacterial PCR and Sequencing, Varies

Detecting and identifying bacteria (including mycobacteria) from normally sterile sources, including synovial fluid; body fluids such as pleural, peritoneal, and pericardial fluids, cerebrospinal fluid; and both fresh and formalin-fixed...