MRDMR - Overview: Multiple Myeloma Minimal Residual Disease by Flow Cytometry, Bone Marrow
Detecting low level (minimal residual disease) myeloma cells after therapy to confirm remission has been achieved
APOAB - Overview: Apolipoprotein A1 and B, Serum
Assessment of cardiovascular risk Follow-up studies in individuals with basic lipid measures inconsistent with risk factors or clinical presentation Definitive studies of cardiac risk factors in individuals with significant family...
BAP1 - Overview: BAP1 Immunostain, Technical Component Only
As part of a panel of immunostains where loss of staining can be used as a marker of various neoplasms
MRDMM - Overview: Multiple Myeloma Minimal Residual Disease, Flow Cytometry, Bone Marrow
Detecting low level (minimal residual disease) myeloma cells after therapy.
MYD88 - Overview: MYD88, L265P, Somatic Gene Mutation, DNA Allele-Specific PCR, Varies
Establishing the diagnosis of lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia Helping to distinguish lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia (low-grade B-cell lymphoma) from other subtypes
SSCTU - Overview: S-Sulfocysteine Panel, Urine
Diagnosis of molybdenum cofactor deficiency, isolated sulfite oxidase deficiency, and hereditary xanthinuria Monitoring patients with molybdenum cofactor deficiency or isolated sulfite oxidase deficiency who are on treatment
PCTTS - Overview: Purkinje Cell Cytoplasmic Antibody Type Tr (PCA-Tr) Titer, Serum
Serological testing for Purkinje cell cytoplasmic antibody-Tr for patients with acquired cerebellar ataxia of undetermined etiology, particularly if the patient has a history of Hodgkin lymphoma Reporting an end titer result from serum...
CTXWB - Overview: Cerebrotendinous Xanthomatosis, Blood
Evaluating patients with a clinical suspicion of cerebrotendinous xanthomatosis (CTX) Monitoring of individuals with CTX on chenodeoxycholic acid (CDCA) therapy This test is not useful for the identification of carriers. This test is...
PVLE - Overview: Paraneoplastic Vision Loss Evaluation, Serum
Evaluating patients with rapidly progressive vision loss where a paraneoplastic cause for vision loss (retinopathy or optic neuritis with other findings [eg, retinitis] is suspected) Evaluating patients with small-cell carcinoma who...
TERTD - Overview: TERT Promoter Mutation Analysis, Droplet Digital PCR, Tumor
Identifying specific mutations within the TERT promoter that assist in tumor diagnosis/classification
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
VASC - Overview: Antineutrophil Cytoplasmic Antibodies Vasculitis Panel, Serum
Evaluating patients with clinical features of anti-neutrophil cytoplasmic antibody-associated vasculitis, specifically granulomatosis with polyangiitis, microscopic polyangiitis, and eosinophilic granulomatosis with polyangiitis
AGAS - Overview: Alpha-Galactosidase, Serum
Diagnosis of Fabry disease in male patients Preferred screening test (serum) for Fabry disease This test is not useful for patients undergoing a work up for a meat or meat-derived product allergy.
Aiding in the prognosis and clinical management of lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia
TMSI - Overview: Microsatellite Instability, Tumor
Evaluation of tumor tissue to identify patients at high risk for having Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer Evaluation of tumor tissue for clinical decision-making purposes given the prognostic and...
MPNCM - Overview: Myeloproliferative Neoplasm, CALR with Reflex to MPL, Varies
Aiding in the distinction between a reactive cytosis and a myeloproliferative neoplasm when JAK2V617F testing result is negative
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...
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...
GLIC - Overview: CD8 T-Cell Immune Competence, Global, Blood
Determining overimmunosuppression within the CD8 T-cell compartment, when used on transplant recipients and patients with autoimmune disorders receiving therapy with immunosuppressant agents
CLPMG - Overview: Phospholipid (Cardiolipin) Antibodies, IgG and IgM, Serum
The following clinical situations: -Unexplained arterial or venous thrombosis -A history of pregnancy morbidity defined as 1 or more unexplained deaths of a morphologically normal fetus beyond the 10th week of gestation, 1 or more premature...
HEMP - Overview: Hereditary Erythrocytosis Mutations, Whole Blood
Definitive evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit This test is not intended for prenatal...
MSP3 - Overview: Multiple Sclerosis (MS) Cascade, Serum and Spinal Fluid
Diagnosing multiple sclerosis, especially helpful in patients with equivocal clinical or radiological findings
NGPCM - Overview: MayoComplete Plasma Cell Myeloma, Next-Generation Sequencing, Varies
Evaluating multiple myeloma at the time of diagnosis and at disease relapse or when changing clinical management to provide prognostic information and determine potential therapeutic implications
GID2 - Overview: Gastrointestinal Dysmotility, Autoimmune/Paraneoplastic Evaluation, Serum
Investigating unexplained weight loss, early satiety, anorexia, nausea, vomiting, constipation, or diarrhea in a patient with a past or family history of cancer or autoimmunity Directing a focused search for cancer Investigating...
LPAGF - Overview: Lymphocyte Proliferation to Antigens, Blood
Assessing T-cell function in patients on immunosuppressive therapy, including solid-organ transplant patients Evaluating patients suspected of having impairment in cellular immunity Evaluation of T-cell function in patients with primary...
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...
QNKS - Overview: Natural Killer (NK)/Natural Killer T-Cell Subsets, Quantitative, Blood
Quantitation of the major natural killer (NK)-cell subsets relative to total NK cells (NK cell subsets) or total lymphocytes (NK T cells) Assessment in the following clinical contexts: HIV, primary immune deficiencies with NK cell...
2D6Q - Overview: Cytochrome P450 2D6 Comprehensive Cascade, Varies
Providing information relevant to tamoxifen, codeine, and tramadol, as well as other medications metabolized by cytochrome P450 2D6 Determining the exact genotype when other methods fail to generate this information or if...
Aiding in the distinction between the myeloproliferative neoplasm polycythemia vera and other secondary erythrocytosis
PMPDD - Overview: PMP22 Gene, Large Deletion/Duplication Analysis, Varies
Diagnosis of Charcot-Marie-Tooth type 1A or hereditary neuropathy with liability to pressure palsies
IDTRT - Overview: IDH1, IDH2, and TERT Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the IDH1 and IDH2 genes and the TERT promoter to assist in tumor diagnosis/classification
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
MB2GP - Overview: Beta-2 Glycoprotein 1 Antibodies, IgM, Serum
Evaluating patients with suspected antiphospholipid syndrome by identification of beta-2 glycoprotein 1 IgM antibodies First-line test when antiphospholipid syndrome is strongly suspected in conjunction with cardiolipin antibodies (IgG...
GB2GP - Overview: Beta-2 Glycoprotein 1 Antibodies, IgG, Serum
Evaluating patients with suspected antiphospholipid syndrome by identification of beta-2 glycoprotein 1 IgG antibodies First-line test when antiphospholipid syndrome is strongly suspected, in conjunction with cardiolipin antibodies (IgG...
BAMRP - Overview: Bile Acids Malabsorption Panel, Serum and Feces
Aiding in the evaluation of patients suspected of having chronic diarrhea symptoms due to bile acid malabsorption
CLLMF - Overview: Chronic Lymphocytic Leukemia, Specified FISH, Varies
Detecting recurrent common chromosome abnormalities in patients with chronic lymphocytic leukemia (CLL) Distinguishing patients with 11;14 translocations who have the leukemic phase of mantle cell lymphoma from patients who have CLL...
CLLDF - Overview: Chronic Lymphocytic Leukemia, Diagnostic FISH, Varies
Detecting recurrent common chromosome abnormalities in patients with chronic lymphocytic leukemia (CLL) Distinguishing patients with 11;14 translocations who have the leukemic phase of mantle cell lymphoma from patients who have...
NTRKM - Overview: NTRK Genes Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying NTRK mutations that may predict resistance to Trk inhibitors
PYRC - Overview: Pyruvate, Spinal Fluid
Investigating possible disorders of mitochondrial metabolism, when used in conjunction with cerebrospinal fluid lactate, collected at the same time, to determine the lactate-to-pyruvate (L:P) ratio Evaluating patients with neurologic...
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
TRYPT - Overview: Tryptase, Serum
Evaluation of individuals with suspected mast cell activation, which may occur as a result of anaphylaxis or allergen challenge Evaluation of patients with suspected mast cell activation syndrome Evaluation of patients with suspected...
IL6DX - Overview: Interleukin-6, Serum
Evaluating patients with suspected chronic inflammatory disorders, such as rheumatoid arthritis, systemic lupus erythematosus, ankylosing spondylitis, or inflammatory bowel disease Evaluating patients with Castleman disease Evaluating...
HEX4 - Overview: Glucotetrasaccharides, Random, Urine
Diagnosing Pompe disease, when used in conjunction with acid alpha-glucosidase enzyme activity assays and molecular genetic analysis of the GAA gene Monitoring patients with Pompe disease on enzyme replacement therapy May support the...
JAK2B - Overview: JAK2 V617F Mutation Detection, Blood
Aiding in the distinction between a reactive blood cytosis and a chronic myeloproliferative disorder using peripheral blood specimens
AMPIP - Overview: Amyloid Protein Identification, Paraffin, Mass Spectrometry
Definitive identification of amyloid proteins
AAUCD - Overview: Amino Acids, Urea Cycle Disorders Panel, Plasma
Follow-up of patients with urea cycle disorders
Distinguishing between hepatocellular carcinoma and chronic liver disease Monitoring individuals with hepatic cirrhosis from any etiology for progression to hepatocellular carcinoma Surveillance for development of hepatocellular...
RO52 - Overview: Ro52 Antibody, IgG, Serum
Evaluating patients at risk for connective tissue disease with or without interstitial lung disease Differentiating single vs double positivity for Ro52 and Ro60 antibodies in combination with anti-Ro60
RO60 - Overview: Ro60 Antibody, IgG, Serum
Evaluating patients at risk for connective tissue disease with or without interstitial lung disease Differentiating single vs double positivity for Ro52 and Ro60 antibodies in combination with anti-Ro60
TCGRV - Overview: T-Cell Receptor Gene Rearrangement, PCR, Varies
Determining whether a T-cell population is polyclonal or monoclonal using body fluid or tissue specimens
helps in diagnosis, treatment, and prognosis of ALS and MS - Insights
neurofilament light chain (Nfl) proteins in blood, clinicians can better diagnose devastating diseases like ALS and MS, help predict disease progression, and better assess efficacy of existing drugs and trial therapies...
Frontotemporal dementia and ALS - Insights
Learn more about how detection of amyotrophic lateral sclerosis and frontotemporal dementia paved the way for gene-targeted therapies for patients.
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1939: Lou Gehrig Comes to Mayo Clinic #ThrowbackThursday - Insights
June 1939, his name became associated with an illness called amyotrophic lateral sclerosis (ALS). Today, ALS is known as Lou Gehrig’s Disease....
Hereditary Alzheimer's disease and dementia - Insights
Learn about our genetic testing for Alzheimer’s disease, amyotrophic lateral sclerosis (ALS), frontotemporal dementia, and CADASIL....