Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inborn error of immunity (IEI) associated with immune dysregulation or autoimmunity Establishing a diagnosis of an IEI, allowing...
ADEVL - Overview: Alzheimer Disease Evaluation, Spinal Fluid
Assessment of adults with cognitive impairment being evaluated for Alzheimer disease and other causes of cognitive impairment These assays should not be used to predict the development of dementia or other neurologic conditions or to...
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...
MSUDP - Overview: Maple Syrup Urine Disease Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of maple syrup urine disease (MSUD) Establishing a molecular diagnosis for patients with MSUD Identifying variants within genes known to be associated with MSUD, allowing for...
MMAGP - Overview: Methylmalonic Aciduria Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of a methylmalonic acidemia Establishing a molecular diagnosis for patients with methylmalonic acidemia Identifying variants within genes known to be associated with methylmalonic...
MUPAN - Overview: Comprehensive Neuromuscular Gene Panel, Varies
Establishing a molecular diagnosis for patients with a neuromuscular disorder Identifying variants within genes known to be associated with neuromuscular disorders allowing for predictive testing of at-risk family members
CGPH - Overview: Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies
Customization of existing next-generation sequencing panels offered through Mayo Clinic Laboratories Detection single nucleotide and copy number variants in a custom gene panel Identification of a pathogenic variant may assist with...
CKDGP - Overview: Cystic Kidney Disease Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history of cystic kidney disease Establishing a diagnosis of hereditary cystic kidney disease
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...
IMSNP - Overview: Inherited Motor and Sensory Neuropathy Gene Panel, Varies
Establishing a molecular diagnosis for patients with hereditary motor and sensory neuropathy (HMSN) or Charcot-Marie-Tooth (CMT) disease Identifying variants within genes known to be associated with HMSN or CMT disease, allowing for...
MPAGP - Overview: Methylmalonic Aciduria-Propionic Aciduria Combined Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of methylmalonic acidemia or propionic acidemia Establishing a molecular diagnosis for patients with methylmalonic acidemia or propionic acidemia Identifying variants within genes...
Follow-up testing to identify variants in individuals with a clinical diagnosis of cystic fibrosis (CF) Identifying genetic variants in individuals with atypical presentations of CF (eg, congenital bilateral absence of the vas deferens or...
TTBS - Overview: Testosterone, Total and Bioavailable, Serum
Recommended second-level test for suspected increases or decreases in physiologically active testosterone: -Assessment of androgen status in cases with suspected or known sex hormone-binding globulin binding abnormalities -Assessment of...
LIPOG - Overview: Lipodystrophy Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary lipodystrophy Establishing a diagnosis of a hereditary lipodystrophy
HPP - Overview: Pancreatic Polypeptide, Plasma
Detecting pancreatic endocrine tumors Assessing vagal nerve function after meal or sham feeding
VALPF - Overview: Valproic Acid, Free, Serum
Monitoring free valproic acid in therapy Assessing compliance Evaluating potential toxicity
THEO - Overview: Theophylline, Serum
Assessing and adjusting theophylline dosage for optimal therapeutic level Assessing theophylline toxicity
CAI - Overview: Calcium, Ionized, Serum
Assessing calcium states during liver transplantation surgery, cardiopulmonary bypass, or any procedure requiring rapid transfusion of whole blood in neonates and critically ill patients Second-order test in the evaluation of patients with...
RTIC - Overview: Reticulocytes, Blood
Assessing erythropoietic bone marrow activity in anemia and other hematologic conditions
TOPI - Overview: Topiramate, Serum
Monitoring serum concentrations of topiramate Assessing compliance Assessing potential toxicity
THEVI - Overview: Hemoglobinopathy Interpretation
Interpretation of results for the evaluation of thalassemias and hemoglobinopathies Evaluation of microcytosis Extensive and economical diagnosis and classification of hemoglobinopathies or thalassemia including complex...
FIBTP - Overview: Fibrinogen, Plasma
Detecting increased or decreased fibrinogen (factor I) concentration of acquired or congenital origin Monitoring severity and treatment of disseminated intravascular coagulation and fibrinolysis
LACO - Overview: Lacosamide, Serum
Monitoring serum concentrations of lacosamide to ensure compliance and appropriate dosing in specific clinical conditions (ie, severe kidney impairment, mild-to-moderate hepatic impairment, and kidney failure)
Aiding in the evaluation of iron deficiency and iron overload diseases in combination with total iron binding capacity and percent saturation Assessment of acute iron poisoning
INS - Overview: Insulin, Serum
Diagnosing insulinoma, when used in conjunction with proinsulin and C-peptide measurements Management of diabetes mellitus
AC1Q - Overview: Anti-C1q Antibodies, IgG, Serum
Evaluating patients with suspected anti-C1q vasculitis Predicting renal involvement in patients with systemic lupus erythematosus Detection of anti-C1q antibodies in serum
GAAWR - Overview: Acid Alpha-Glucosidase Reflex, Leukocytes
Diagnosis of Pompe disease as a confirmatory reflex of the 6-enzyme panel
RAMBO - Overview: Ammonium, Random, Urine
Diagnosis of the cause of acidosis using random urine specimens Diagnosis and treatment of kidney stones
A2PI - Overview: Alpha-2 Plasmin Inhibitor, Plasma
Diagnosing congenital alpha-2 plasmin inhibitor deficiencies (rare) Providing a complete assessment of disseminated intravascular coagulation, intravascular coagulation and fibrinolysis, or hyperfibrinolysis (primary fibrinolysis), when...
BUPS - Overview: Buprenorphine Screen, Random, Urine
Screening for drug abuse or use of buprenorphine
BRIVA - Overview: Brivaracetam, Plasma
Assessing compliance and toxicity for brivaracetam
BUPM - Overview: Buprenorphine and Norbuprenorphine, Random, Urine
Monitoring of compliance utilizing buprenorphine Detection and confirmation of the illicit use of buprenorphine
F_11 - Overview: Coagulation Factor XI Activity Assay, Plasma
Diagnosing deficiency of coagulation factor XI Investigating prolonged activated partial thromboplastin time
F_9 - Overview: Coagulation Factor IX Activity Assay, Plasma
Diagnosing deficiencies, particularly hemophilia B (Christmas disease) Assessing the impact of liver disease on hemostasis Investigation of a prolonged activated partial thromboplastin time
MPA - Overview: Mycophenolic Acid, Serum
Monitoring therapy to ensure adequate blood levels and avoid over-immunosuppression
OSM24 - Overview: Osmolality, 24 Hour, Urine
Assessing the concentrating and diluting ability of the kidney using a 24-hour urine collection
FER - Overview: Semen Analysis, Semen
Determining male fertility status
CH8B - Overview: Chromogenic Factor VIII Inhibitor Bethesda Titer, Plasma
Detecting the presence and titer of a specific factor inhibitor directed against coagulation factor VIII This test is not useful for detecting the presence of inhibitors directed against other clotting factors and will not detect the...
CUU - Overview: Copper, 24 Hour, Urine
Investigation of Wilson disease and obstructive liver disease using a 24-hour urine specimen
CURCU - Overview: Copper/Creatinine Ratio, Random, Urine
Investigation of Wilson disease and obstructive liver disease using a random urine specimen
CXC13 - Overview: CXCL13 Immunostain, Technical Component Only
Assessment of CXCL13 (CXC motif chemokine ligand 13) expression
F_7 - Overview: Coagulation Factor VII Activity Assay, Plasma
Diagnosing congenital deficiency of coagulation factor VII Evaluating acquired deficiencies associated with liver disease, oral anticoagulant therapy, and vitamin K deficiency Determining degree of anticoagulation with warfarin to...
VZM - Overview: Varicella-Zoster Virus (VZV) Antibody, IgM, Serum
Diagnosing acute-phase infection with varicella-zoster virus
CA - Overview: Calcium, Total, Serum
Diagnosis and monitoring of a wide range of disorders including diseases of bone, kidney, parathyroid gland, or gastrointestinal tract
GLURA - Overview: Glucose, Random, Serum
Diagnosing and managing diabetes mellitus and other carbohydrate metabolism disorders including gestational diabetes, neonatal hypoglycemia, idiopathic hypoglycemia, and pancreatic islet cell carcinoma
F_10 - Overview: Coagulation Factor X Activity Assay, Plasma
Diagnosing deficiency of coagulation factor X, congenital or acquired Evaluating hemostatic function in liver disease Investigation of prolonged prothrombin time or activated partial thromboplastin time
MEVI - Overview: Methemoglobinemia Interpretation
Interpretation of the methemoglobinemia evaluation results Diagnosis of methemoglobinemia and sulfhemoglobinemia and possible hereditary (congenital) causes Differentiation of methemoglobinemia and sulfhemoglobinemia from other causes of...
PRKSG - Overview: PRKAR1A Full Gene Sequencing with Deletion/Duplication, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Carney Complex (CNC) or acrodysostosis-1 with hormone resistance Establishing a diagnosis of CNC or acrodysostosis-1 with hormone resistance
TTRZ - Overview: TTR Gene, Full Gene Analysis, Varies
Establishing a molecular diagnosis for patients with amyloidosis Identifying variants within TTR known to be associated with amyloidosis, allowing for predictive testing of at-risk family members
SUP24 - Overview: Supersaturation Profile, 24 Hour, Urine
Diagnosis and management of patients with renal lithiasis: -Predicting the likely composition of the stone, in patients who have a radiopaque stone, for whom stone analysis is not available -May aid in designing a treatment program...
Mayo Clinic Staff Members Honored in ASCP's "40 under Forty" - Insights
Clinical Pathology (ASCP) has announced the 2017 “40 under Forty” honorees. Each year, the Selection Committee identifies 40 ASCP members under the age of 40 who are recognized for being future pathology and...
D., named to Business Insider's list of 30 under 40 working to transform health care - Insights
Since the pandemic hit, she's spent a great deal of time vetting antibody tests and has set up a COVID-19 testing program at Mayo Clinic.
Mayo Clinic Laboratory and Pathology Research Roundup: March 13 - Insights
evolution of giant cell arteritis with a prospective study of follow-up temporal artery biopsies in 40 treated patients....
High School Students Experience Laboratory Professional Careers - Insights
Last month in Rochester, the Mayo Clinic School of Health Sciences welcomed 40 Minnesota high school juniors and seniors to tour various areas of the Mayo Clinic campus as a part of this year’s Career...
Yuma Regional Medical Center: Changing perceptions and powering growth - Insights
leaders, resulting in a changed perception of the laboratory’s ability to drive profitability and a $40 million capital investment in laboratory infrastructure....