PHTDP - Overview: Phosphorylated TDP43 Immunostain, Technical Component Only
Identification of pathological forms of TDP-43 in neurodegenerative diseases
PTEN - Overview: Phosphatase and Tensin Homolog (PTEN) Immunostain, Technical Component Only
Diagnosis of intraductal prostate carcinoma
IL5P - Overview: Interleukin 5, Plasma
Evaluation of patients with disorders known to be associated with hypereosinophilia
APHTC - Overview: Amphiphysin Antibody Titer Assay, Spinal Fluid
Evaluating patients with recent onset of a subacute neurological disorder for which a paraneoplastic basis might be suspected, particularly if the patient has a previous history, risk factors, or family history of cancer, especially lung or...
CTSK - Overview: Cathepsin K Immunostain, Technical Component Only
Evaluation for perivascular epithelioid cell neoplasms (PEComas), alveolar soft part sarcoma, and translocation-associated renal cell carcinomas
SOX11 - Overview: SOX11 Immunostain, Technical Component Only
Identification of mantle cell lymphomas
TTFSP - Overview: Thyroid Transcription Factor (SPT24) Immunostain, Technical Component Only
Part of a panel of immunostains to identify the primary site for carcinomas of unknown origin
GATA3 - Overview: GATA Binding Protein 3 Immunostain, Technical Component Only
Characterizing carcinomas, including primary bladder and breast carcinomas, and some types of mesenchymal and neuroectodermal tumors
HCQ - Overview: Hydroxychloroquine, Serum
Monitoring serum hydroxychloroquine concentrations, assessing compliance, and adjusting dosage in patients
Reporting an end titer result in spinal fluid specimens Distinguishing, in spinal fluid, autoimmune GFAP astrocytopathy from infectious meningoencephalitis and idiopathic inflammatory central nervous system (CNS) disorders such as multiple...
Reporting an end titer result in serum specimens Distinguishing autoimmune glial fibrillary acidic protein (GFAP) astrocytopathy from infectious meningoencephalitis and idiopathic inflammatory central nervous system (CNS) disorders such as...
IHCFH - Overview: Fumarate Hydratase Immunostain, Technical Component Only
Identifying fumarate hydratase-deficient neoplasms Supporting the diagnosis of an atypical smooth muscle tumor over leiomyosarcoma
IDH2 - Overview: IHD2, R172K Mutation, Immunostain, Technical Component Only
Identification of IDH2 R172K mutant protein in angioimmunoblastic T-cell lymphoma or acute myeloid leukemia
IA2 - Overview: Islet Antigen 2 (IA-2) Antibody, Serum
Clinical distinction of type 1 from type 2 diabetes mellitus Identification of individuals at risk of type 1 diabetes (including high-risk relatives of patients with diabetes) Prediction of future need for insulin treatment in...
ISLET - Overview: Islet 1 Immunostain, Technical Component Only
Identification of endocrine tumors
MTAP - Overview: Methylthioadenosine Phosphorylase (MTAP) Immunostain, Tech Only
Aiding in the diagnosis of malignant mesothelioma
ALKOT - Overview: Anaplastic Lymphoma Kinase (ALK [OTI1A4]) Immunostain, Technical Component Only
Identification of anaplastic lymphoma kinase overexpression Diagnosis of inflammatory myofibroblastic tumor and anaplastic large cell lymphoma
AACYL - Overview: Aminoacylase-1 Deficiency, Urine
Follow-up quantitation of abnormal organic acid elevations of N-acetylated amino acids, in particular N-acetylalanine, N-acetylglycine, N-acetylmethionine, and N-acetylglutamic acid Diagnosis of individuals with aminoacylase-1...
BIOTS - Overview: Biotinidase, Serum
Preferred test for the diagnosis of biotinidase deficiency Follow-up testing for certain organic acidurias
BRG1 - Overview: BRG1 (SMARCA4) Immunostain, Technical Component Only
Diagnosing ovarian small cell carcinoma of hypercalcemic type (SCCOHT)
CD303 - Overview: CD303 (BDCA-2) Immunostain, Technical Component Only
Diagnosis of blastic plasmacytoid dendritic cell neoplasm
MUCN4 - Overview: Mucin 4, Immunostain, Technical Component Only
Aids in the differentiation of sarcomatoid carcinoma from sarcomatoid mesothelioma
Aids in distinguishing solitary fibrous tumor from morphologic mimics
SSTR2 - Overview: Somatostatin Receptor 2 (SSTR2), Immunostain, Technical Component Only
Aids in the identification of neuroendocrine tumors
STFR - Overview: Soluble Transferrin Receptor (sTfR), Serum
Evaluation of suspected iron deficiency in patients who may have inflammation, infection, or chronic disease and other conditions in which ferritin concentration does not correlate with iron status, including: -Cystic fibrosis patients who...
Identification of neural epidermal growth factor-like 1 (NELL-1) protein primary membranous nephropathy
GATAB - Overview: GATA-Binding Protein 3 Immunostain, Technical Component Only, Bone Marrow,
Characterizing carcinomas, including primary bladder and breast carcinomas, and some types of mesenchymal and neuroectodermal tumors
Determination of T-cell clonality in T-cell neoplasms
TRBC1 - Overview: T-Cell Receptor Constant Beta Chain (TRBC1) Immunostain, Technical Component Only
Determination of T-cell clonality in T-cell neoplasms
APHTS - Overview: Amphiphysin Antibody Titer Assay, Serum
Evaluating patients with recent onset of a subacute neurological disorder for which a paraneoplastic basis might be suspected, particularly if the patient has a previous history, risk factors, or family history of cancer, especially lung or...
EPC2 - Overview: Epilepsy, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid
Investigating new onset cryptogenic epilepsy with incomplete seizure control and duration of fewer than 2 years using spinal fluid specimens Investigating new onset cryptogenic epilepsy plus 1 or more of the following...
Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary hemorrhagic telangiectasia (HHT), cerebral cavernous malformation (CCM), capillary malformation-arteriovenous malformation syndrome...
Aiding in the diagnosis of new cases of multiple myeloma or other plasma cell proliferative disorders using bone marrow specimens Identifying prognostic markers based on the abnormalities found This test should not be used to track the...
PMARG - Overview: Postmortem Arrhythmia Gene Panel, Tissue
Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death suspicious for cardiac arrhythmia or with a personal or family history suggestive of a hereditary form of cardiac arrhythmia Identifying a...
PKLRZ - Overview: PKLR Full Gene Analysis, Varies
Aiding in the diagnosis of pyruvate kinase (PK) deficiency Ascertaining a causative variant in the PKLR gene of patients with low or relatively low levels of erythrocytic PK enzymatic activity Ascertaining carrier status of family members...
STK1Z - Overview: Peutz-Jeghers Syndrome, STK11, Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of Peutz-Jeghers syndrome (PJS) Establishing a diagnosis of PJS allowing for targeted cancer surveillance based on associated risks Identifying variants within genes known...
TBBS - Overview: Quantitative Lymphocyte Subsets: T, B, and Natural Killer (NK) Cells, Blood
Serial monitoring of CD4 T-cell count in patients who are HIV-positive Follow-up and diagnostic evaluation of primary immunodeficiencies, including severe combined immunodeficiency Immune monitoring following immunosuppressive therapy...
NGSFX - Overview: Reanalysis of Acute Myeloid Leukemia 4- or 11- Gene Panels, Additional Genes
Comprehensive reanalysis of a larger set of genes/gene regions when a more targeted gene panel was previously performed in this laboratory Evaluation of known or suspected hematologic neoplasms, specifically of myeloid origin (eg, acute...
HMUOE - Overview: Heavy Metal Occupational Exposure, with Reflex, Random, Urine
Preferred screening test for detection of arsenic, cadmium, mercury, and lead due to occupational exposure using random urine specimens
HMUCR - Overview: Heavy Metal/Creatinine Ratio, with Reflex, Random, Urine
Preferred screening test for detection of arsenic, cadmium, mercury, and lead in random urine specimens
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
MCLNM - Overview: MayoComplete Lung Cancer Mutations, Next-Generation Sequencing, Tumor
Diagnosis and management of patients with lung cancer Assessing microsatellite instability
BAP1Z - Overview: BAP1-Tumor Predisposition Syndrome, BAP1 Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of BAP1-tumor predisposition syndrome (BAP1-TPDS) Establishing a diagnosis of BAP1-TPDS allowing for targeted cancer surveillance based on associated risks Identifying...
MPCDS - Overview: mSMART, Plasma Cell Proliferative Disorder, FISH, Bone Marrow
Aiding in the diagnosis of new cases of multiple myeloma or other plasma cell proliferative disorders as a part of a profile Identifying prognostic markers based on the anomalies found
CMAP - Overview: Chromosomal Microarray, Prenatal, Amniotic Fluid/Chorionic Villus Sampling
Prenatal diagnosis of copy number changes (gains or losses) across the entire genome Determining the size, precise breakpoints, gene content, and any unappreciated complexity of abnormalities detected by other methods, such as conventional...
CJDE - Overview: Creutzfeldt-Jakob Disease Evaluation, Spinal Fluid
Assessment of Creutzfeldt-Jakob disease or other human prion disease in patients with rapidly progressive dementia
CHRGB - Overview: Chimerism-Recipient Germline (Pretransplant), Varies
Evaluating the recipient cells prior to bone marrow transplant
CHIDB - Overview: Chimerism-Donor, Varies
Evaluating the donor cells prior to bone marrow transplant Determining the relative amounts of donor and recipient cells in a specimen An indicator of bone marrow transplant success
TBNY - Overview: T, B and NK Lymphocyte Quantitation, New York, Blood
Only orderable by New York clients Serial monitoring of CD4 T-cell count in patients who are HIV-positive Follow-up and diagnostic evaluation of primary immunodeficiencies, including severe combined immunodeficiency Immune monitoring...
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
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....