PAMIK - Overview: Amikacin, Peak, Serum
Monitoring adequacy of serum concentration during amikacin therapy
ALKLC - Overview: Anaplastic Lymphoma Kinase for Lung Cancer, Immunohistochemistry
Identification of anaplastic lymphoma kinase overexpression Diagnosis of inflammatory myofibroblastic tumor, anaplastic large-cell lymphoma, and for targeted therapy of lung adenocarcinoma
HCO3 - Overview: Bicarbonate, Serum
Diagnosis and treatment of acid-base imbalance in respiratory and metabolic systems
SORBU - Overview: Sorbitol and Mannitol, Quantitative, Random, Urine
Monitoring effectiveness of treatment in patients with phosphomannomutase 2 deficiency (PMM2-CDG) Establishing a baseline level prior to initiating treatment for PMM2-CDG This test is not useful for diagnosing congenital disorders of...
NAACD - Overview: N-Acetylaspartic Acid, Canavan Disease, Random, Urine
Diagnosis and monitoring of individuals with Canavan disease Follow-up quantitation of abnormal organic acid elevations of N-acetylaspartic acid
CITR2 - Overview: Citrate Concentration, Random, Urine
Diagnosing risk factors for patients with calcium kidney stones Monitoring results of therapy in patients with calcium stones or renal tubular acidosis
FL - Overview: Fluoride, Plasma
Assessing accidental fluoride ingestion Monitoring patients receiving sodium fluoride for bone disease or patients receiving voriconazole therapy
FFTIO - Overview: Thiocyanate, Serum
Thiocyanate, Serum
FDCU - Overview: Deoxypyridinoline Crosslinks, Urine
Deoxypyridinoline Crosslinks, Urine
WESR - Overview: Whole Exome Sequencing Reanalysis, Varies
Identifying a diagnosis or additional variants associated with the phenotype in patients who previously have had a negative or inconclusive whole exome sequencing test Reanalyzing whole exome sequencing data when a patient (proband)...
PCGP - Overview: Porphyria Comprehensive Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of porphyria Establishing a molecular diagnosis for patients with porphyria Identifying variants within genes known to be associated with porphyria, allowing for predictive testing of...
NHEM - Overview: Hereditary Erythrocytosis Focused Gene Panel, Next-Generation Sequencing, Varies
Focused evaluation of an individual with JAK2-V617F negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, hemoglobin, or hematocrit Providing a focused genetic evaluation for patients with a...
ENDCP - Overview: Hereditary Endocrine Cancer Panel, Varies
Evaluating patients with a personal or family history suggestive of a hereditary endocrine tumor syndrome Establishing a diagnosis of a hereditary endocrine tumor syndrome, allowing for targeted surveillance based on associated risks...
GNF7 - Overview: Factor VII Deficiency, F7 Gene, Next-Generation Sequencing, Varies
Evaluating factor VII deficiency (FVIID) in patients with a personal or family history suggestive of FVIID Confirming an FVIID diagnosis with the identification of known or suspected disease-causing alterations in the F7 gene...
GNMY9 - Overview: MYH9-Related Disorders, MYH9 Gene, Next-Generation Sequencing, Varies
Evaluating MYH9-related disorders, including May-Hegglin disorder/anomaly and Sebastian syndrome, in patients with a personal or family history suggestive of an MYH9-related disorder Diagnosing MYH9-related disorders, including May-Hegglin...
CDSP - Overview: Celiac Disease Serology Cascade, Serum
Evaluating patients suspected of having celiac disease, including patients with compatible symptoms, patients with atypical symptoms, and individuals at increased risk (family history, previous diagnosis with associated disease, positivity...
Providing a genetic evaluation for patients with a personal or family history suggestive of atypical hemolytic uremic syndrome (aHUS), thrombotic microangiopathy (TMA), or complement 3 glomerulopathy (C3G) Establishing a diagnosis of...
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...
COMCP - Overview: Hereditary Common Cancer Panel, Varies
Evaluating hereditary cancer for patients with a personal or family history suggestive of a hereditary cancer syndrome using a panel of 36 genes Establishing a diagnosis of a hereditary cancer syndrome allowing for targeted cancer...
Evaluating hereditary thrombotic thrombocytopenic purpura (TTP) in patients with a personal or family history suggestive of thrombotic microangiopathy Confirming a hereditary TTP diagnosis with the identification of known or suspected...
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
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
DHR - Overview: Dihydrorhodamine Flow Cytometric Test, Blood
Evaluation of chronic granulomatous disease (CGD), X-linked and autosomal recessive forms, Rac2 deficiency, complete myeloperoxidase deficiency Monitoring chimerism and nicotinamide adenine dinucleotide phosphate oxidase (NOX) function...
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
NMEM - Overview: Red Blood Cell Membrane Disorders Gene Panel, Next-Generation Sequencing, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of a red blood cell (RBC) membrane disorder Second-tier testing for patients in whom previous targeted gene variant analyses were...
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
BRGYP - Overview: Hereditary Breast/Gynecologic Cancer Panel, Varies
Evaluating patients with a personal or family history suggestive of a hereditary breast or gynecological cancer syndrome Establishing a diagnosis of a hereditary breast or gynecological cancer syndrome allowing for targeted cancer...
PANCP - Overview: Hereditary Pancreatic Cancer Panel, Varies
Evaluating patients with a personal or family history suggestive of a hereditary pancreatic cancer syndrome Establishing a diagnosis of a hereditary pancreatic cancer syndrome, allowing for targeted cancer surveillance based on associated...
ISPP - Overview: Inherited Spastic Paraplegia Gene Panel, Varies
Establishing a molecular diagnosis for patients with hereditary spastic paraplegia Identifying variants within genes known to be associated with hereditary spastic paraplegia, allowing for predictive testing of at-risk family members
Establishing a molecular diagnosis for patients with limb-girdle muscular dystrophy or congenital myasthenic syndrome Identifying variants within genes known to be associated with limb-girdle muscular dystrophy or congenital myasthenic...
PARDP - Overview: Inherited Parkinson Disease Gene Panel, Varies
Establishing a molecular diagnosis for patients with Parkinson disease Identifying variants within genes known to be associated with Parkinson disease, allowing for predictive testing of at-risk family members
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...
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of Epstein-Barr virus (EBV) susceptibility or a heritable predisposition to lymphoproliferative disease Establishing a diagnosis of a...
RABMP - Overview: Inherited Rhabdomyolysis and Metabolic Myopathy Panel, Varies
Establishing a molecular diagnosis for patients with rhabdomyolysis and metabolic myopathy Identifying variants within genes known to be associated with rhabdomyolysis and metabolic myopathy, allowing for predictive testing of at-risk...
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...
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...
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...
TREGS - Overview: T-Cell Subsets, Regulatory (Tregs), Blood
Evaluating patients with clinical features of IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked inheritance) and other primary immunodeficiencies, autoimmune diseases, allergy and asthma, and graft-vs-host disease...
META3 - Overview: Metanephrines with 3-Methoxytyramine, 24 Hour, Urine
A first- and second-tier screening test for the presumptive diagnosis of catecholamine-secreting pheochromocytomas and paragangliomas
EDSGG - Overview: Ehlers-Danlos Syndrome Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Ehlers-Danlos syndrome and related conditions Establishing a diagnosis for Ehlers-Danlos syndrome, X-linked occipital horn syndrome, X-linked...
NAGW - Overview: Hexosaminidase A and Total Hexosaminidase, Leukocytes
Carrier detection and diagnosis of Tay-Sachs disease Carrier detection and diagnosis of Sandhoff disease
Detecting high-risk (HR) genotypes associated with the development of cervical cancer Aiding in triaging women with abnormal Pap smear test results Individual genotyping of human papillomavirus (HPV)-16 and/or HPV-18 if present...
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...
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
CMSP - Overview: Inherited Congenital Myasthenic Syndrome Gene Panel, Varies
Establishing a molecular diagnosis for patients with congenital myasthenic syndrome Identifying variants within genes known to be associated with congenital myasthenic syndrome, allowing for predictive testing of at-risk family members
EDMDP - Overview: Inherited Emery-Dreifuss Gene Panel, Varies
Establishing a molecular diagnosis for patients with Emery-Dreifuss muscular dystrophy Identifying variants within genes known to be associated with Emery-Dreifuss muscular dystrophy, allowing for predictive testing of at-risk family...
ARVGG - Overview: Arrhythmogenic Cardiomyopathy Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of arrhythmogenic cardiomyopathy Establishing a diagnosis of a hereditary form of arrhythmogenic cardiomyopathy
ATPCO - Overview: Anal ThinPrep Cytology with Human Papillomavirus (HPV) Co-Test, Varies
Detection of malignant and premalignant changes Detection of high-risk (HR) genotypes associated with the development of anal cancer Individual genotyping of human papillomavirus (HPV)-16 and HPV-18, if present May aid in triaging men...
PNTOR - Overview: Streptococcus pneumoniae IgG Antibodies, Total, with Reflex, Serum
Assessing the IgG antibody response to active immunization with nonconjugated 23-valent pneumococcal vaccines Assessing the IgG antibody response to active immunization with conjugated 13-valent, 15-valent and 20-valent pneumococcal...
NELL-1 [Test in Focus] - Insights
D., discusses how Mayo Clinic Laboratories’ new immunohistochemistry test for the detection of NELL-1 antigen, a biomarker for membranous nephropathy found in 10% to 15% of patients, provides diagnostic...
Looking Back on Clinical Chemistry 1 - Insights
in the Mayo Clinic Medical Laboratory Science program, takes a look back on her Clinical Chemistry 1 course....
Mayo Clinic Ranked No. 1 Hospital Nationwide by U.S. News & World Report - Insights
Report’s 29th annual "Best Hospitals Honor Roll" published online on August 14. Mayo Clinic also ranked No. 1 in more specialties than any other hospital in the country....
Orexin-A/Hypocretin-1 for the Diagnosis of Type 1 Narcolepsy [Test in Focus] - Insights
test to perform as well as to interpret. The orexin-A/hypocretin-1 test is a sensitive and specific alternative to the MSLT to diagnose type 1 narcolepsy....
Week in Review: November 1 - Insights
Top highlights include: Facebook launches into the digital space of healthcare, medical breakthrough for Ebola, and how the brain makes memories.