NAGW - Overview: Hexosaminidase A and Total Hexosaminidase, Leukocytes
Carrier detection and diagnosis of Tay-Sachs disease Carrier detection and diagnosis of Sandhoff disease
RENCP - Overview: Hereditary Renal Cancer Panel, Varies
Evaluating patients with a personal or family history suggestive of a hereditary renal cancer syndrome Establishing a diagnosis of a hereditary renal cancer syndrome allowing for targeted cancer surveillance based on associated risks...
Human papillomavirus (HPV) screening for average-risk, asymptomatic individuals who are eligible for primary HPV testing, have barriers to a speculum exam for a clinician-collected cervical sample for screening, and who are able to...
IMNP - Overview: Inherited Motor Neuropathy Gene Panel, Varies
Establishing a molecular diagnosis for patients with distal hereditary motor neuropathy (dHMN) Identifying variants within genes known to be associated with dHMN, allowing for predictive testing of at-risk family members
HBPES - Overview: Hepatitis B Virus Past Exposure Panel, Serum
Screening for past exposure to hepatitis B virus (HBV) Determining HBV infection and immunity status prior to initiating chemotherapy or other immunosuppressive agents
HCVSP - Overview: Hepatitis C Virus (HCV) Antibody Screen Prenatal, Serum
Screening of pregnant women for hepatitis C virus (HCV) infection in primary care settings, with or without risk factors for hepatitis C This test should not be used as a screening test for hepatitis C in blood or human cells/tissue...
HBABY - Overview: Hepatitis B Virus Perinatal Exposure Follow-up Panel, Serum
Determining hepatitis B virus infection and immunity status (with or without perinatal prophylaxis) in infants born to mothers with chronic hepatitis B
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...
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...
KRABZ - Overview: Krabbe Disease, Full Gene Analysis and Large (30 kb) Deletion, Varies
Second-tier test for confirming a diagnosis of Krabbe disease Carrier testing for individuals with a family history of Krabbe disease in the absence of known sequence variants in the family
MCGYN - Overview: MayoComplete Gynecological Cancer Panel, Next-Generation Sequencing, Tumor
Predicting patients' prognosis and response to targeted therapy Assessment of microsatellite instability for immunotherapy decisions
AGABS - Overview: Alpha-Galactosidase, Blood Spot
Diagnosis of Fabry disease in male patients using blood spot specimens Verifying abnormal serum alpha-galactosidase results in male patients with a clinical presentation suggestive of Fabry disease Follow-up to an abnormal newborn screen...
CFRCS - Overview: Bacterial Culture, Cystic Fibrosis with Antimicrobial Susceptibilities, Varies
Detecting disease-causing aerobic bacteria in specimens from patients with cystic fibrosis Determining the in vitro antimicrobial susceptibility of potentially pathogenic aerobic bacteria, if appropriate
MCKCP - Overview: MayoComplete Kidney Cancer Panel, Next-Generation Sequencing, Tumor
Identifying specific mutations to assist in tumor diagnosis/classification Assisting in the clinical management of patients with renal cell carcinoma Assessment of microsatellite instability for immunotherapy decisions
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...
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)
CORTO - Overview: Cortisol, Free and Total, Serum
Assessment of cortisol status in cases where there is known or a suspected abnormality in cortisol-binding proteins or albumin Assessment of adrenal function in the critically ill or stressed patient, thus preventing unnecessary use of...
CASRG - Overview: CASR Full Gene Sequencing with Deletion/Duplication, Varies
Providing a genetic evaluation of individuals with a personal or family history of familial hypocalciuric hypercalcemia, neonatal severe primary hyperparathyroidism, or autosomal dominant hypoparathyroidism (autosomal dominant...
DMDZ - Overview: DMD Gene, Full Gene Analysis, Varies
Establishing a molecular diagnosis for patients with Duchenne muscular dystrophy and Becker muscular dystrophy Identifying variants within DMD known to be associated with Duchenne muscular dystrophy or Becker muscular dystrophy, allowing...
PEANT - Overview: Peanut, IgE with Reflex to Peanut Components, IgE, Serum
Evaluating patients with suspected peanut allergy Evaluating patients with possible peanut cross-reactivity
Screening for hepatitis C virus (HCV) infection in primary care settings in high-risk persons with a current or previous history of illicit injection drug use or a history of receiving a blood transfusion prior to 1992 Screening for...
NMS1 - Overview: Necrotizing Myopathy Evaluation, Serum
Evaluating patients with suspected necrotizing autoimmune myopathy
MBX - Overview: Muscle Pathology Consultation
Obtaining a rapid, expert opinion on muscle biopsy specimens for diagnosis of acquired or inherited muscle diseases Guiding treatment and genetic testing, as well as investigating relevance of genetic variants of unknown significance
SCARA - Overview: Spinocerebellar Ataxia Type 1, 2, 3, 6, or 7, Repeat Expansion Analysis, Varies
Diagnostic or predictive testing when clinical symptoms or a family history are specific to only one type of spinocerebellar ataxia
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...
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...
NAGR - Overview: Hexosaminidase A and Total, Leukocytes/Molecular Reflex, Whole Blood
Carrier detection and diagnosis of Tay-Sachs disease Carrier detection and diagnosis of Sandhoff disease
NUTHR - Overview: Hazelnut-Food, IgE with Reflex to Hazelnut-Food Components, IgE, Serum
Evaluation of patients with suspected hazelnut-food allergy
H2BR - Overview: HER2 Amplification Associated with Breast Cancer, FISH, Tissue
A predictive marker for patients with both node-positive or node-negative primary and metastatic breast cancer Patients with HER2 amplification that may be candidates for therapies targeting the human epidermal growth factor receptor 2...
AFXN - Overview: Friedreich Ataxia, Repeat Expansion Analysis, Varies
Molecular confirmation of clinically suspected Friedreich ataxia
MFBNG - Overview: FBN1 Full Gene Sequencing with Deletion/Duplication, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Marfan syndrome and other FBN1-related conditions Establishing a diagnosis for Marfan syndrome and other FBN1-related conditions
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...
RETZZ - Overview: Multiple Endocrine Neoplasia Type 2 Syndrome, RET, Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of a multiple endocrine neoplasia type 2 (MEN2) or Hirschsprung disease (HSCR) Establishing a diagnosis of MEN2 or HSCR allowing for targeted cancer surveillance based on...
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,...
CTDC - Overview: Connective Tissue Diseases Cascade, Serum
Evaluation of patients with signs and symptoms compatible with connective tissue diseases Initial evaluation of patients in clinical situations in which the prevalence of disease is low (6) This test is not recommended for: -Testing in...
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...
CATPF - Overview: Cat Epithelium, IgE, with Reflex to Cat Epithelium Components, IgE, Serum
Evaluating patients with suspected cat allergy
CRTS1 - Overview: Creatinine with Estimated Glomerular Filtration Rate (eGFR), Serum
Diagnosing and monitoring treatment of acute and chronic kidney diseases Adjusting dosage of renally excreted medications Monitoring kidney transplant recipients Estimating glomerular filtration rate for people with chronic kidney...
NSAIP - Overview: Neurosyphilis IgG Antibody Index with VDRL, Serum and Spinal Fluid
Aid in the diagnosis of neuroinvasive syphilis
WARSQ - Overview: Warfarin Response Genotype, Varies
Identifying patients who may require warfarin dosing adjustments(3,4) including: -Patients being started on a first prescription for warfarin -Patients who have previously been prescribed warfarin and have required multiple dosing...
Providing a genetic evaluation for patients with a personal or family history suggestive of recessive congenital methemoglobinemia Genotype confirmation of borderline cytochrome b5 reductase (methemoglobin reductase: METR) enzyme activity...
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...
OIBFG - Overview: Osteogenesis Imperfecta and Bone Fragility Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive osteogenesis imperfecta and other hereditary conditions associated with bone fragility
AVWPR - Overview: von Willebrand Disease Profile, Plasma
Detection of deficiency or abnormality of von Willebrand factor (VWF) and related deficiency of factor VIII coagulant activity Subtyping von Willebrand disease (VWD) as type 1 (most common), type 2 variants (less common), or type 3...
NY State Informed Consent Tests - Mayo Clinic Laboratories
NY State Informed Consent Tests New York State clients are required by New York State regulations to have completed informed-consent forms on file. When ordering the following tests, all NYS clients are required to indicate to...
HLHGP - Overview: Primary Hemophagocytic Lymphohistiocytosis Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of familial hemophagocytic lymphohistiocytosis (F-HLH) Establishing a diagnosis of F-HLH, allowing for appropriate management and...
ALPSG - Overview: Autoimmune Lymphoproliferative Syndrome (ALPS) Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of autoimmune lymphoproliferative syndrome (ALPS) or related disorders Establishing a diagnosis of ALPS or a related disorder, allowing...
GSDGP - Overview: Glycogen Storage Disease Gene Panel, Varies
Follow up of abnormal biochemical results consistent with glycogen storage disease (GSD) Establishing a molecular diagnosis for patients with GSD Identifying variants within genes known to be associated with GSD allowing for predictive...
BWRS - Overview: Beckwith-Wiedemann Syndrome/Russell-Silver Syndrome, Molecular Analysis, Varies
Confirming a clinical diagnosis of Beckwith-Wiedemann syndrome (BWS) or Russell-Silver syndrome (RSS) Prenatal diagnosis if there is a high suspicion of BWS/RSS based on ultrasound findings or in families at risk for BWS/RSS This assay...
Information: Interpreting Laboratory Tests to Determine New vs. Residual Use of Marijuana - Insights
In this month's "Hot Topic," Paul Jannetto, Ph.D., identifies how to determine new vs. residual use of marijuana in a patient, and teaches how to calculate the carboxy-tetrahydrocannabinol (carboxy-THC)...
Laboratory and Pathology Research Roundup: March 12 - Insights
known. We performed laser microdissection (LCM) of glomeruli followed by mass spectrometry (MS) in 12 cases each of DDD, C3GN, and pretransplant kidney control biopsies....
COVID-19: At-home sample collection vs. at-home testing - Insights
The concept of at-home testing for COVID-19 sounds straightforward. But there's nuance to it that's important to understand. Right now, an at-home test for COVID-19 is not available, although there may be one coming soon. But in some areas,...
Clinic Laboratory and Pathology Research Roundup: Nov. 12 - Insights
This week’s Research Roundup highlights a mechanism for preventing asymmetric histone segregation onto replicating DNA strands.
Transfusion Toons: A1 vs. A2 - Insights
Justin Kreuter, M.D., Clinical Pathologist and Medical Director of the Mayo Clinic Blood Donor Center in Rochester, Minnesota, and Theresa Malin, an Education Specialist in Transfusion Medicine at Mayo Clinic, have launched “Transfusion...