TTGG - Overview: Tissue Transglutaminase Antibody, IgG, Serum
Individuals with IgA deficiency Evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased risk (family history, previous...
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...
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...
HBGSN - Overview: Hepatitis B Virus Surface Antigen Screen, Serum
Diagnosis of acute, recent, or chronic hepatitis B Determination of chronic hepatitis B status This test is not offered as a screening or confirmatory test for blood donor specimens. This test is not useful for diagnosis of hepatitis...
G6PDZ - Overview: Glucose-6-Phosphate Dehydrogenase (G6PD) Full Gene Sequencing, Varies
Genetic test for individuals at high risk for glucose-6-phosphate dehydrogenase (G6PD) deficiency Aiding in the diagnosis of G6PD deficiency Determining G6PD deficiency status in individuals with inconclusive or unexpected phenotyping...
HITIG - Overview: Heparin-PF4 IgG Antibody, Serum
Detection of IgG antibodies directed against heparin/platelet factor 4 complexes that are implicated in the pathogenesis of immune-mediated type II heparin-induced thrombocytopenia, spontaneous heparin platelet-factor 4 IgG antibody, and...
DGLDN - Overview: Gliadin (Deamidated) Antibodies Evaluation, IgG and IgA, Serum
Assessment of deaminated gliadin IgA and IgG antibodies for evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased risk...
DAGL - Overview: Gliadin (Deamidated) Antibody, IgA, Serum
Assessment of deaminated gliadin IgA antibodies for evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased risk (family...
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
LQTSG - Overview: Long QT Syndrome Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of long QT syndrome (LQTS) Establishing a diagnosis of LQTS
Establishing a diagnosis of lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia (LPL/WM) Helping distinguish LPL/WM low-grade B-cell lymphoma from other subtypes Aiding in the prognosis and clinical management of lymphoplasmacytic...
AAQP - Overview: Amino Acids, Quantitative, Plasma
Evaluating patients with possible inborn errors of metabolism using plasma specimens May aid in evaluation of endocrine disorders, liver diseases, muscle diseases, neoplastic diseases, neurological disorders, nutritional disturbances,...
CHBVS - Overview: Chronic Hepatitis B Screen, Serum
Diagnosis and evaluation of patients at risk for or suspected of having chronic hepatitis B This test is not offered as a screening or confirmatory test for blood donor specimens. This test is not useful during the "window period" of...
CHSBP - Overview: Chronic Hepatitis B Monitoring Profile, Serum
Evaluating and monitoring individuals with known chronic hepatitis B Monitoring hepatitis B viral infectivity after resolution of acute hepatitis B
SMN1Z - Overview: SMN1 Gene, Full Gene Analysis, Varies
Confirming a diagnosis of spinal muscular atrophy due to nucleotide variants in SMN1 gene Second-tier carrier screening when there is a family history of spinal muscular atrophy, but an affected individual is not available for testing, or...
TSTGP - Overview: Tissue Transglutaminase Antibodies, IgA and IgG Profile, Serum
Evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased risk (family history, previous diagnosis with associated disease,...
Establishing laboratory evidence of disseminated intravascular coagulation
TTGA - Overview: Tissue Transglutaminase Antibody, IgA, Serum
Assessment of tissue transglutaminase IgA antibodies for evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased risk...
NONCM - Overview: Neuro-Oncology Gene Panel, Mutations Only, Tumor
Identifying mutations that may support a diagnosis or help determine prognosis for patients with central nervous system tumors Identifying specific mutations within genes known to be associated with response or resistance to specific...
NENZ - Overview: Red Blood Cell Enzyme Disorders Gene Panel, Next-Generation Sequencing, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an underlying red blood cell enzymopathy Identifying variants within genes associated with phenotypic severity, allowing for...
ENC2 - Overview: Encephalopathy, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid
Evaluating new onset encephalopathy (noninfectious or metabolic) comprising confusional states, psychosis, delirium, memory loss, hallucinations, movement disorders, sensory or motor complaints, seizures, dyssomnias, ataxias, nausea,...
GNPRC - Overview: Protein C Deficiency, PROC Gene, Next-Generation Sequencing, Varies
Evaluating protein C deficiency in patients with a personal or family history suggestive of this hereditary thrombophilia Confirming a diagnosis of autosomal dominant protein C deficiency with the identification of a known or suspected...
PBCPN - Overview: Primary Biliary Cholangitis Antibody Panel, Serum
Evaluation of at-risk or previously diagnosed primary biliary cholangitis patients with new features of other liver diseases or systemic autoimmune diseases
Identifying individuals who are at increased risk of adverse drug reactions with drugs that are metabolized by uridine diphosphate glucuronosyltransferase (UGT1A1); especially irinotecan but also atazanavir, nilotinib, pazopanib, and...
PWAS - Overview: Prader-Willi/Angelman Syndrome, Molecular Analysis, Varies
Confirmation of diagnosis in patients suspected of having either Prader-Willi syndrome (PWS) or Angelman syndrome (AS) based on clinical assessment or previous laboratory analysis Prenatal diagnosis in families at risk for PWS or AS
TCRB - Overview: T-Cell Receptor V-Beta Repertoire Analysis, Spectratyping, Blood
Assessment of T-cell receptor diversity in various clinical contexts including inborn errors of immunity (formerly primary immunodeficiencies), monitoring immune reconstitution post-hematopoietic stem cell transplantation, and temporal...
HPGLP - Overview: Hereditary Paraganglioma/Pheochromocytoma Panel, Varies
Evaluating patients with a personal or family history suggestive of a hereditary paraganglioma and pheochromocytoma (PGL/PCC) syndrome Establishing a diagnosis of a hereditary PGL/PCC, allowing for targeted surveillance based on...
Identifying HIV-1 genotypic mutations associated with resistance to nucleotide and non-nucleoside reverse-transcriptase inhibitors, protease inhibitors, and integrase strain transfer inhibitors Guiding initiation or change of combination...
AFXN - Overview: Friedreich Ataxia, Repeat Expansion Analysis, Varies
Molecular confirmation of clinically suspected Friedreich ataxia
FIBRO - Overview: FibroTest-ActiTest, Serum
Evaluating hepatic fibrosis in chronic hepatitis C patients Diagnosing fibrosis in carriers of chronic hepatitis B virus Evaluating hepatic fibrosis in co-infected HIV carriers Providing access to new-generation non-interferon...
MFRGG - Overview: Marfan, Loeys-Dietz, and Aortopathy Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Marfan syndrome and related conditions Establishing a diagnosis for Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome,...
CVHBG - Overview: Comprehensive Cerebrovascular Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of a monogenic condition in which there is an increased risk for a cerebrovascular accident Establishing a diagnosis of a monogenic condition in which...
NONCP - Overview: Neuro-Oncology Expanded Gene Panel with Rearrangement, Tumor
Identifying mutations and rearrangements that may support a diagnosis or help determine prognosis for patients with CNS tumors Identifying specific mutations and rearrangements within genes known to be associated with response or...
TYRGP - Overview: Tyrosine Disorders Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of a tyrosine disorder Establishing a molecular diagnosis for patients with tyrosine disorders Identifying variants within genes known to be associated with tyrosine disorders,...
GLICP - Overview: CD8 T-Cell Immune Competence Panel, Global, Whole Blood
Determining over immunosuppression within the CD8 T-cell compartment, when used on transplant recipients and patients with autoimmune disorders receiving therapy with immunosuppressant agents
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...
CDIFS - Overview: Clostridioides difficile Culture with Antimicrobial Susceptibilities, Varies
Providing an isolate suitable for antimicrobial susceptibility testing to direct antimicrobial therapy of extraluminal infections and in cases of treatment failure
CDKZ - Overview: CDKN1C Gene, Full Gene Analysis, Varies
Confirming a clinical diagnosis of Beckwith-Wiedemann syndrome following a normal result on methylation analysis Confirming a clinical diagnosis of IMAGe (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia...
JIP - Overview: Joint Infection Panel, PCR, Synovial Fluid
Rapid detection of synovial fluid infections caused by the following: Anaerococcus prevotii/vaginalis Finegoldia magna Streptococcus species Clostridium perfringens Parvimonas micra Streptococcus agalactiae Cutibacterium...
ALUPP - Overview: Lupus Anticoagulant Profile, Plasma
Confirming or excluding the presence of lupus anticoagulant (LA), distinguishing LA from specific coagulation factor inhibitors and nonspecific inhibitors Investigating a prolonged activated thromboplastin time, especially when combined...
PMAOG - Overview: Postmortem Aortopathy Gene Panel, Tissue
Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death attributed to thoracic aortic dissection or with a personal or family history suggestive of Marfan syndrome, Loeys-Dietz syndrome, thoracic aortic...
PHSP - Overview: Prenatal Hepatitis Evaluation, Serum
Screening pregnant women for chronic hepatitis B and hepatitis C in primary care settings, with or without risk factors for hepatitis C Determining the level of infectivity of chronic hepatitis B in pregnant women This test is not useful...
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,...
UCDP - Overview: Urea Cycle Disorders Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of a urea cycle disorder (UCD) Establishing a molecular diagnosis for patients with a UCD Identifying variants within genes known to be associated with UCD, allowing for predictive...
CDGF - Overview: Celiac Disease Gluten-Free Cascade, Serum and Whole Blood
Evaluating patients suspected of having celiac disease who are currently (or were recently) on a gluten-free diet
HMDB - Overview: Heavy Metals Screen with Demographics, Blood
Detecting exposure to arsenic, lead, cadmium, and mercury
HFAOP - Overview: Fatty Acid Oxidation Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of a fatty acid oxidation disorder Establishing a molecular diagnosis for patients with a fatty acid oxidation disorder Identifying variants within genes known to be associated with a...
AHEP - Overview: Acute Viral Hepatitis Profile, Serum
Differential diagnosis of recent acute viral hepatitis
BTKSG - Overview: Bruton Tyrosine Kinase, BTK Full Gene Analysis, Varies
Confirming a diagnosis of X-linked agammaglobulinemia in patients with a history of recurrent sinopulmonary infections, profound hypogammaglobulinemia, and less than 1% peripheral B cells, with or without abnormal Bruton tyrosine kinase...
CRHEP - Overview: Chronic Viral Hepatitis (Unknown Type), Serum
Diagnosis and evaluation of patients with symptoms of hepatitis lasting more than 6 months Distinguishing between chronic hepatitis B and C
Mucopolysaccharidosis type I (MPS I) is a rare genetic disorder that typically presents with progressive multisystem involvement in early childhood. This condition results from the deficiency of the enzyme...
webinar on implementation of high-sensitivity troponin I assay - Insights
Cardiovascular Diseases, will be presenting a webinar on the implementation of a high-sensitivity troponin I assay. The webinar will be held February 13 from 1:00-2:00 p.m. eastern....
Should I Stay or Should I Go? - Insights
In this episode of “Lab Medicine Rounds,” host Justin Kreuter, M.D., and Rondell Graham, M.B.B.S., delve into the critical decisions involved in contemplating a role on the staff at the institution where you receive your training.
often oversimplified & misunderstood technology--Part I
In the last decade, genetic testing has evolved from single-gene Sanger based assays to much more complex next-generation sequencing (NGS) based assays.
inform novel treatments for kidney stones - Part I - Insights
A collaborative study between Mayo Clinic and the University of Illinois debunked the previous consensus about how kidney stones grow.