ACASM - Overview: Pernicious Anemia Cascade, Serum

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

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

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

RLTE4 - Overview: Leukotriene E4, Random, 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 random urine collections

PBDC - Overview: Lead, Capillary, with Demographics, Blood

Detecting lead toxicity with capillary collections

PBDV - Overview: Lead, Venous, with Demographics, Blood

Detecting lead toxicity in venous blood specimens

MCECP - Overview: MayoComplete Endometrial Carcinoma Panel, Next-Generation Sequencing, Tumor

Primarily for determining if patients will respond to targeted therapy Assessment of microsatellite instability for immunotherapy decisions Molecular-based classification of endometrial carcinoma

ASPBA - Overview: Aspergillus Antigen, Bronchoalveolar Lavage

Aiding in the diagnosis of invasive aspergillosis using bronchoalveolar lavage specimens Assessing response to therapy

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

CD4RT - Overview: CD4 T-Cell Recent Thymic Emigrants, Blood

Evaluating thymic reconstitution in patients following hematopoietic cell transplantation, chemotherapy, immunomodulatory therapy, and immunosuppression Evaluating thymic recovery in patients who are HIV-positive and on highly active...

C9ORF - Overview: C9orf72 Hexanucleotide Repeat, Molecular Analysis, Varies

Molecular confirmation of clinically suspected cases of c9FTD/ALS, frontotemporal dementia (FTD), or amyotrophic lateral sclerosis (ALS) Presymptomatic testing for individuals with a family history of c9FTD/ALS and a documented expansion...

UGTFZ - Overview: UDP-Glucuronosyltransferase 1A1 (UGT1A1), Full Gene Sequencing, Varies

Establishing a diagnosis of Crigler-Najjar syndrome type I or type II and the trait of Gilbert syndrome Establishing carrier status for Crigler-Najjar syndrome type I or type II Identifying individuals who are at risk of...

MCSRC - Overview: MayoComplete Comprehensive Sarcoma 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...

DBMD - Overview: Duchenne/Becker Muscular Dystrophy, DMD Gene, Large Deletion/Duplication Analysis, Varies

Confirmation of a clinical diagnosis of Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) Distinguishing DMD from BMD in some cases, based on the type of deletion detected (allows for better prediction of...

DHCRZ - Overview: Smith Lemli Opitz Syndrome, DHCR7 Gene, Full Gene Analysis, Varies

Follow up for abnormal biochemical results suggestive of Smith-Lemli-Opitz syndrome Establishing a molecular diagnosis for patients with Smith-Lemli-Opitz syndrome Identifying alterations within DHCR7 allowing for predictive testing of...

BCELL - Overview: B-Cell and Antibody Deficiency Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited primary B-cell disorder or humoral immunodeficiency Establishing a diagnosis of a primary B-cell disorder or humoral...

GNHMB - Overview: Hemophilia B, F9 Gene, Next-Generation Sequencing, Varies

Confirming a clinical diagnosis of hemophilia B in affected male patients with the identification of a disease-causing variant in the F9 gene Determining the disease-causing alteration within the F9 gene to delineate the underlying...

ACC - Overview: Adrenal Mass Panel, 24 Hour, Urine

Aiding in assessing malignancy in adrenal masses May aid in improving diagnostic and prognostic prediction and dissect disease mechanisms for the following applications: -Diagnostic assessment and follow up of adrenal cortical...

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

IEHCG - Overview: Interference Evaluation Heterophile, Beta-Human Chorionic Gonadotropin, Serum

Evaluating suspected interference from heterophile antibodies causing a falsely elevated human chorionic gonadotropin result This test is not to be used for pregnancy testing.

LUCHM - Overview: LiquidHALLMARK ctDNA and ctRNA

As an alternative to invasive tissue biopsies to assist in tumor profiling for diagnosis, predicting prognosis, and identifying targeted therapies for the treatment and management of patients with a solid tumor This test is not useful for...

COGTF - Overview: T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Children's Oncology Group Enrollment Testing, FISH, Varies

Evaluation of pediatric bone marrow and peripheral blood specimens by fluorescence in situ hybridization probe analysis for classic rearrangements and chromosomal copy number changes associated with T-cell acute lymphoblastic leukemia in...

PMPDD - Overview: PMP22 Gene, Large Deletion/Duplication Analysis, Varies

Diagnosis of Charcot-Marie-Tooth type 1A or hereditary neuropathy with liability to pressure palsies

GAAZ - Overview: Pompe Disease, Full Gene Analysis, Varies

Confirmation of diagnosis of Pompe disease (as a follow-up to biochemical analyses)

HBAB - Overview: Hepatitis B Virus Surface Antibody, Qualitative/Quantitative, Serum

Identifying previous exposure to hepatitis B virus Determining adequate immunity from hepatitis B vaccination

H2GE - Overview: HER2 Amplification Associated with Gastroesophageal Cancer, FISH, Tissue

A predictive marker for patients with both node-positive or node-negative primary and metastatic gastroesophageal cancer Guiding therapy for patients with primary or metastatic gastroesophageal tumors, as patients with HER2 amplification...

HBBSN - Overview: Hepatitis B Virus Surface Antibody Screen, Qualitative/Quantitative, Serum

Identifying previous exposure to hepatitis B virus

TFH - Overview: FH Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the FH gene to assist in tumor diagnosis/classification, including renal cell carcinoma, uterine/cutaneous leiomyoma, and pheochromocytoma/paraganglioma

RETF - Overview: Lung Cancer, RET (10q11) Rearrangement, FISH, Tissue

Identifying RET gene rearrangements in patients with late-stage, lung adenocarcinomas that are negative for epidermal growth factor receptor mutations and anaplastic lymphoma kinase rearrangements Fluorescence in situ hybridization (FISH)...

APCRR - Overview: Activated Protein C Resistance V, with Reflex to Factor V Leiden, Blood and Plasma

Evaluating patients with incident or recurrent venous thromboembolism (VTE) Evaluating individuals with a family history of VTE

BRCAT - Overview: BRCA1/2 Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the BRCA1 and BRCA2 genes known to be associated with response to PARP inhibitors and sensitivity to platinum-based therapy This test is not intended for the evaluation of patients suspected of having...

MCMRU - Overview: Mast Cell Mediators, Random, Urine

Evaluating patients at risk for mast cell activation syndrome (eg, systemic mastocytosis) using random urine collections

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

PBC2 - Overview: SP100 and GP210 Antibodies, IgG, Serum

Evaluating the risk of primary biliary cholangitis in anti-mitochondrial antibody (AMA)-negative patients by identification of Sp100 and gp210 antibodies Estimating risk in AMA-positive patients with incomplete feature of disease

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

HBABP - Overview: Hepatitis B Virus Surface Antibody Prenatal, Qualitative/Quantitative, Serum

Identifying previous exposure to hepatitis B virus in pregnant individuals Determining adequate immunity from hepatitis B vaccination during pregnancy

SPSA - Overview: Prostate-Specific Antigen (PSA) Screen, Serum

As a screening aid in the detection of prostate cancer when used in conjunction with a digital rectal exam in men 50 years or older Screening to aid in the prognosis and management of individuals diagnosed with prostate cancer

PKUBS - Overview: Phenylalanine and Tyrosine, Blood Spot

Monitoring effectiveness of therapy in patients with hyperphenylalaninemia This test is not sufficient for follow-up for abnormal newborn screening results or for establishing a diagnosis of a specific cause of hyperphenylalaninemia

MAMMX - Overview: 6-Monoacetylmorphine (6-MAM) Confirmation, Chain of Custody, Meconium

Detecting in utero heroin exposure up to 5 months before birth Chain of custody is required whenever the results of testing could be used in a court of law. Its purpose is to protect the rights of the individual contributing the specimen...

VMA - Overview: Vanillylmandelic Acid, 24 Hour, Urine

Screening children for catecholamine-secreting tumors using a 24-hour urine collection when requesting testing for vanillylmandelic acid only Supporting a diagnosis of neuroblastoma Monitoring patients with a treated neuroblastoma

T821Q - Overview: RUNX1-RUNX1T1 Translocation (8;21), Minimal Residual Disease Monitoring, Quantitative, Varies

Detection of RUNX1-RUNX1T1 gene fusion in acute myeloid leukemia patients at the time of diagnosis Minimal residual disease monitoring during the clinical and therapeutic course of these patients

HVA - Overview: Homovanillic Acid, 24 Hour, Urine

Screening children for catecholamine-secreting tumors using a 24-hour urine collection when requesting homovanillic acid only Monitoring neuroblastoma treatment Screening patients with possible inborn errors of catecholamine metabolism

10INE - Overview: Factor X Inhibitor Evaluation, Plasma

Detection and quantitation of inhibitor to coagulation factor X This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a nonspecific circulating anticoagulant, or other inhibitors that are not...

2INHE - Overview: Factor II Inhibitor Evaluation, Plasma

Detection and quantitation of inhibitor to factor II This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a nonspecific circulating anticoagulant, or other inhibitors that are not specific for...

5INHE - Overview: Factor V Inhibitor Evaluation, Plasma

Detection and quantitation of inhibitors against coagulation factor V This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a nonspecific circulating anticoagulant, or other inhibitors that are not...

FRTUP - Overview: Free Thyroxine Index (FTI), Serum

Estimating the amount of circulating free thyroxine (free thyroxine index) using the total thyroxine and thyroid binding capacity (T-uptake)

KRASP - Overview: KRAS Somatic Mutation Analysis, Tumor

Detecting molecular markers associated with response or resistance to specific cancer

MMGEN - Overview: Mycoplasma genitalium, Transcription-Mediated Amplification, Post-Prostatic Massage Fluid/Urine or Peritoneal Fluids

Detecting Mycoplasma genitalium in cases of suspected infection in peritoneal fluid or prostatic secretion (VBIII) fluid/urine This test is not intended for use in medico-legal applications.

WAGDR - Overview: Alpha Globin Cluster Locus Deletion/Duplication, Blood

Diagnosis of alpha-thalassemia Carrier screening for individuals from high-risk populations for alpha-thalassemia This test is not useful for diagnosis or confirmation of beta-thalassemia or hemoglobinopathies.

ADVQU - Overview: Adenovirus DNA Detection and Quantification, Plasma

Aiding in the diagnosis of disseminated adenovirus infections in at-risk individuals Measuring adenoviral load in plasma to monitor disease progression and antiviral response in individuals with disseminated infection

ALLOI - Overview: Allo-isoleucine, Blood Spot

Evaluation of newborn screening specimens that test positive for branched-chain amino acids elevations Follow-up of patients with maple syrup urine disease