PGDBS - Overview: Plasmalogens, Blood Spot

Diagnosing patients with possible peroxisomal disorders, such as peroxisomal biogenesis disorders (Zellweger syndrome spectrum) and rhizomelic chondrodysplasia punctata (RCDP), including fatty acyl-CoA reductase 1 (FAR1)...

DENVP - Overview: Dengue Virus Antibody/Antigen Panel, Serum

Aiding in the diagnosis of dengue virus infection by detection of IgM and IgG antibodies and the nonstructural protein 1 (NS1)

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

LYMPV - Overview: Lyme Disease, Molecular Detection, PCR, Varies

Supporting the diagnosis of Lyme disease in conjunction with serologic testing Specific indications including testing skin biopsies when a rash lesion is not characteristic of erythema migrans and testing synovial fluid or synovium to...

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

SARCP - Overview: Sarcoma Targeted Gene Fusion/Rearrangement Panel, Next-Generation Sequencing, Tumor

Diagnosing specific soft tissue and bone tumors (sarcoma) based on the observed gene fusions (eg, PAX3/FOXO1 gene fusion observed in alveolar rhabdomyosarcoma, EWSR1-FLI1 gene fusion for Ewing sarcoma, SS18-SSX1/2 gene fusion for synovial...

PEANT - Overview: Peanut, IgE with Reflex to Peanut Components, IgE, Serum

Evaluating patients with suspected peanut allergy Evaluating patients with possible peanut cross-reactivity This test is not useful for patients previously treated with immunotherapy to determine if residual clinical sensitivity exists...

MCSMP - Overview: MayoComplete Sarcoma Mutation Panel, Next-Generation Sequencing, Tumor

Primarily for identifying mutations that help in the diagnosis of specific soft tissue and bone tumors (sarcoma) Secondarily for identifying mutations that have therapeutic or prognostic significance Assessing microsatellite instability...

MCMLN - Overview: MayoComplete Melanoma Panel, Next-Generation Sequencing, Tumor

Determining if patients will respond to targeted therapy Assessing microsatellite instability for immunotherapy decisions

2B6Q - Overview: Cytochrome P450 2B6 Genotype, Varies

Aiding in determining therapeutic strategies for drugs that are metabolized by cytochrome P450 (CYP) 2B6 Providing information relevant to efavirenz and sertraline, as well as other medications metabolized by CYP2B6 Determining the...

PFAPE - Overview: Fatty Acid Profile, Essential, Plasma

Evaluating the nutritional intake and intestinal absorption of essential fatty acids using plasma specimens Identifying deficiency of essential and other nutritionally beneficial fatty acids Monitoring treatment of patients with essential...

3A5Q - Overview: Cytochrome P450 3A5 Genotype, Varies

Aids in optimizing treatment with tacrolimus and other drugs metabolized by cytochrome P450 3A5

MCCRC - Overview: MayoComplete Colorectal Cancer Panel, Next-Generation Sequencing, Tumor

Primarily for determining patient response to various targeted therapies or immunotherapy Predicting prognosis from microsatellite instability status

IDHT - Overview: IDH1 and IDH2 Mutation Analyses, Next-Generation Sequencing, Tumor

Identifying specific mutations within the IDH1 and IDH2 genes that assist in tumor diagnosis/classification and predict response to targeted therapy

ADPKP - Overview: Focused Autosomal Dominant Polycystic Kidney Disease Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of autosomal dominant polycystic kidney disease Establishing a diagnosis of autosomal dominant polycystic kidney disease

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

ESTUF - Overview: Endometrial Stromal Tumors (EST), 7p15 (JAZF1), 6p21.32 (PHF1), 17p13.3 (YWHAE) Rearrangement, FISH, Tissue

Supporting the diagnosis of endometrial stromal tumors when used in conjunction with an anatomic pathology consultation

CRMP1 - Overview: Cardiovascular Risk Marker Panel, Serum

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

AMLFA - Overview: Adult Acute Myeloid Leukemia Panel, FISH, Varies

Detecting, at diagnosis, recurrent common chromosome abnormalities associated with acute myeloid leukemia (AML) in patients aged 31 and older using a laboratory-designated probe set algorithm As an adjunct to conventional chromosome...

APROL - Overview: Prolonged Clot Time Profile, Plasma

Determining the cause of prolongation of prothrombin time or activated partial thromboplastin time Screening for prolonged clotting times and determining the presence of factor deficiencies or inhibitor (eg, factor-specific, lupus-like,...

RPDE - Overview: Rapidly Progressive Dementia Evaluation, Spinal Fluid

Evaluation of individuals presenting with rapidly progressive dementia of uncertain disease etiology and a differential diagnosis of Creutzfeldt-Jakob disease and rapidly progressive Alzheimer disease

PHEGP - Overview: Phenylalanine Disorders Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of a phenylalanine disorder Establishing a molecular diagnosis for patients with phenylalanine disorders Identifying variants within genes known to be associated with phenylalanine...

PDGP - Overview: Peroxisomal Disorder Gene Panel, Varies

Follow up of abnormal biochemical result, usually very long-chain fatty acid test consistent with peroxisomal disorder Establishing a molecular diagnosis for patients with peroxisomal disorders Identifying variants within genes known to...

NGSHM - Overview: MayoComplete Myeloid Neoplasms, Comprehensive OncoHeme Next-Generation Sequencing, Varies

Evaluation of known or suspected hematologic neoplasms, specifically of myeloid origin (eg, acute myeloid leukemia, myelodysplastic syndrome, myeloproliferative neoplasm, myelodysplastic/myeloproliferative neoplasm, unexplained cytopenias)...

MCSTP - Overview: MayoComplete Solid Tumor Panel, Next-Generation Sequencing, Tumor

Assisting in tumor profiling for diagnosis, predicting prognosis, and identifying targeted therapies for the treatment and management of patients with solid tumors Identifying somatic alterations including single nucleotide variants, small...

CKDGP - Overview: Cystic Kidney Disease Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history of cystic kidney disease Establishing a diagnosis of hereditary cystic kidney disease

2OHGP - Overview: 2-Hydroxyglutaric Aciduria Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of 2-hydroxyglutaric aciduria Establishing a molecular diagnosis for patients with 2-hydroxyglutaric aciduria Identifying variants within genes known to be associated with...

ADAMP - Overview: ADAMTS13 Activity with Reflex Inhibitor Profile, Plasma

Assisting with the diagnosis of immune or acquired thrombotic thrombocytopenic purpura

ASUCR - Overview: Arsenic/Creatinine, Ratio, with Reflex, Random, Urine

Preferred screening test for detection of arsenic exposure using random urine specimens

FOXOF - Overview: Alveolar Rhabdomyosarcoma (ARMS), 13q14 (FOXO1 or FKHR) Rearrangement, FISH, Tissue

Supporting the diagnosis of alveolar rhabdomyosarcomas when used in conjunction with an anatomic pathology consultation

IMTF - Overview: Inflammatory Myofibroblastic Tumors (IMT), 2p23 (ALK) Rearrangement, FISH, Tissue

Supporting the diagnosis of inflammatory myofibroblastic tumors when used conjunction with an anatomic pathology consultation

CINP - Overview: Cortisol, Mass Spectrometry, Serum

Second-order testing when cortisol measurement by immunoassay (eg, CORT / Cortisol, Serum) gives results that are not consistent with clinical symptoms, or if patients are known to, or suspected of, taking exogenous synthetic steroids...

HIF2A - Overview: Hypoxia-Inducible Factor Alpha (EPAS1/HIF2A) Gene, Exons 9 and 12 Sequencing, Whole Blood

Assessing HIF2A/EPAS1 in the evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit

GLBF - Overview: Glucose, Body Fluid

Aiding in the diagnosis of infection using body fluid specimens

GP210 - Overview: GP210 Antibody, IgG, Serum

Evaluating the risk of primary biliary cholangitis in anti-mitochondrial antibody (AMA)-negative patients by identification of gp210 antibodies Estimating risk in AMA-positive patients with incomplete feature of disease

NADF - Overview: Newborn Aneuploidy Detection, FISH, Blood

Screening for chromosomal aneuploidies of chromosomes 13, 18, 21, X, and Y in newborn peripheral blood specimens

OXYWB - Overview: Oxysterols, Blood

Investigating a possible diagnosis of Niemann-Pick disease type A, B, or C using whole blood specimens Monitoring of individuals with Niemann-Pick type C disease This test is not useful for the identification of carriers.

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...

PLINK - Overview: Paroxysmal Nocturnal Hemoglobinuria, PI-Linked Antigen, Blood

Screening for and confirming the diagnosis of paroxysmal nocturnal hemoglobinuria (PNH) Monitoring patients with PNH

PHD2 - Overview: Prolyl Hydroxylase Domain-2 (PHD2/EGLN1) Gene Sequencing, Whole Blood

Assessing PHD2/EGLN1 in the evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit

DENGM - Overview: Dengue Virus Antibody, IgG and IgM, Serum

Aiding in the diagnosis of dengue virus infection

EPOR - Overview: Erythropoietin Receptor (EPOR) Gene, Exon 8 Sequencing, Whole Blood

Assessing EPOR in the evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit

CHIKS - Overview: Chikungunya Virus, PCR, Molecular Detection, Serum

Qualitative detection of chikungunya virus in serum after early symptom onset (ideally <7 days) This test is not recommended for screening healthy patients.

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...

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

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

TYRBS - Overview: Tyrosinemia Follow Up Panel, Blood Spot

Monitoring of individuals with tyrosinemia type 1 (HT-1) Diagnosis of HT-1 when used in conjunction with testing for urine organic acids, liver function, alpha-fetoprotein, and molecular genetic analysis of the fumarylacetoacetate...

HPCOV - Overview: Severe Acute Respiratory Syndrome Coronavirus 2 (SARS CoV-2), Molecular Detection, Varies

Diagnosis of COVID-19 illness due to SARS-CoV-2

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

WNS - Overview: West Nile Virus Antibody, IgG and IgM, Serum

Laboratory diagnosis of infection with West Nile virus using serum specimens