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Test Catalog
FPAN2 - Overview: Pancreastatin, Plasma
Pancreastatin, Plasma
SEWB - Overview: Selenium, Blood
Assessment of tissue stores of selenium
CDB - Overview: Cadmium, Blood
Detecting exposure to cadmium, a toxic heavy metal
REVE0 - Overview: Erythrocytosis Summary Interpretation
Incorporating and summarizing subsequent results into an overall interpretation for the REVE2 / Erythrocytosis Evaluation, Blood
SALCA - Overview: Salicylate, Serum
Quantitative determination of toxic levels of salicylate This test is not useful for assessing low-dose aspirin therapy.
TPI1 - Overview: Triosephosphate Isomerase Enzyme Activity, Blood
Evaluating individuals with chronic nonspherocytic hemolytic anemia Evaluating individuals with early onset neurologic impairment Genetic counseling for families with triosephosphate isomerase deficiency
TMP - Overview: Trimethoprim, Serum
Monitoring trimethoprim therapy to ensure drug absorption, clearance, or compliance
TRSF - Overview: Transferrin, Serum
Evaluation of iron overload diseases Evaluation of iron deficiency as a cause of anemia
THEV0 - Overview: Thalassemia Summary Interpretation, Blood
Incorporating and summarizing subsequent molecular results into an overall interpretation for the THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum
BUTAS - Overview: Butalbital, Serum
Monitoring butalbital therapy
AMOBS - Overview: Amobarbital, Serum
Monitoring amobarbital therapy
SECOS - Overview: Secobarbital, Serum
Monitoring secobarbital therapy
EOIBD - Overview: Early Onset Monogenic Inflammatory Bowel Disease (IBD) Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited inflammatory bowel disorder Establishing a diagnosis of a monogenic early onset inflammatory bowel disease, allowing...
MAC1 - Overview: Myelopathy, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid
Evaluating patients with suspected autoimmune myelopathy, myelitis, and paraneoplastic myelopathy using spinal fluid specimens
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...
GNHMA - Overview: Hemophilia A, F8 Gene, Next-Generation Sequencing, Varies
Confirming a clinical diagnosis of hemophilia A in affected male patients with the identification of a disease-causing variant in the F8 gene Determining the disease-causing alteration within the F8 gene to delineate the underlying...
NEPHP - Overview: Comprehensive Nephrology Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary kidney disease Establishing a diagnosis for a variety of hereditary kidney conditions including focal segmental glomerulosclerosis,...
GNVWD - Overview: von Willebrand Disease, VWF and GP1BA Genes, Next-Generation Sequencing, Varies
Evaluating von Willebrand disease and platelet-type von Willebrand disease in patients with a personal or family history suggestive of von Willebrand disease Confirming von Willebrand disease or platelet-type von Willebrand disease...
HCHLG - Overview: Hypercholesterolemia Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of familial hypercholesterolemia (FH), sitosterolemia, or other monogenic forms of inherited hypercholesterolemia Establishing a diagnosis of FH,...
CYPZ - Overview: 21-Hydroxylase Gene, CYP21A2, Full Gene Analysis, Varies
Carrier screening and diagnosis of 21-hydroxylase deficient congenital adrenal hyperplasia (CAH) in individuals with a personal or family history of 21-hydroxylase deficiency, or as follow-up to positive CAH newborn screens and/or...
XCP - Overview: Hereditary Expanded Cancer Panel, Varies
Evaluating hereditary cancer in patients with a personal or family history suggestive of a hereditary cancer syndrome using a panel of 87 genes Establishing a diagnosis of a hereditary cancer syndrome allowing for targeted cancer...
PHEGP - Overview: Phenylalanine Disorders Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of a phenylalanine disorder Establishing a molecular diagnosis for patients with phenylalanine disorders Identifying variants within genes known to be associated with phenylalanine...
PHEPU - Overview: Previous Viral Hepatitis (Unknown Type), Serum
Determining if an individual has been infected following exposure to an unknown type of viral hepatitis virus Obtaining baseline serologic markers of an individual exposed to a source with an unknown type of hepatitis Determining...
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...
MCSRC - Overview: MayoComplete Comprehensive Sarcoma 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...
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...
TRECS - Overview: T-Cell Receptor Excision Circles Analysis, Blood
Measuring T-cell output or reconstitution (thymopoiesis) following hematopoietic cell transplantation or highly active antiretroviral therapy Evaluating thymic function in patients with cellular or combined inborn errors of immunity...
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
FXS - Overview: Fragile X Syndrome, Molecular Analysis, Varies
Confirming a diagnosis of fragile X syndrome, fragile X tremor/ataxia syndrome, or premature ovarian insufficiency caused by expansions in the FMR1 gene Determining carrier status for individuals with a family history of fragile X...
KETGP - Overview: Ketone Disorders Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of a ketone disorder Establishing a molecular diagnosis for patients with ketone disorders Identifying variants within genes known to be associated with ketone disorders, allowing for...
TTRX - Overview: Amyloidosis, Transthyretin-Associated Familial, Reflex, Blood
Diagnosis of adult individuals suspected of having transthyretin-associated familial amyloidosis
ASUOE - Overview: Arsenic Occupational Exposure, with Reflex, Random, Urine
Preferred screening test for detection of occupational exposure to arsenic in random urine specimens
CMAMT - Overview: Chromosomal Microarray, Autopsy/Products of Conception/Stillbirth, Tissue
Diagnosis of congenital copy number changes in products of conception, including aneuploidy (ie, trisomy or monosomy) and structural abnormalities Diagnosing chromosomal causes for fetal death Determining recurrence risk of future...
MPS2Z - Overview: Hunter Syndrome, Full Gene Analysis, Varies
Confirmation of a diagnosis of mucopolysaccharidosis type II (Hunter syndrome) Carrier testing when there is a family history of mucopolysaccharidosis type II (Hunter syndrome), but disease-causing variants have not been previously...
GAL1P - Overview: Galactose-1-Phosphate, Erythrocytes
Monitoring dietary therapy of patients with galactosemia due to deficiency of galactose-1-phosphate uridyltransferase or uridine diphosphate galactose-4-epimerase
Screening cadaveric or hemolyzed serum specimens for hepatitis C virus (HCV) infection in asymptomatic individuals with or without risk factors for HCV infection Note: In accordance with National Coverage Determination guidance, this test...
HSVPV - Overview: Herpes Simplex Virus (HSV), Molecular Detection, PCR, Varies
Aiding in the rapid diagnosis of herpes simplex virus (HSV) infections, including qualitative detection of HSV DNA in nonblood clinical specimens This test should not be used to screen asymptomatic patients.
Diagnosis of a neuromyelitis optica spectrum disorder (NMOSD) Diagnosis of autoimmune AQP4 channelopathy Distinguishing NMOSD from multiple sclerosis early in the course of disease
PMPDD - Overview: PMP22 Gene, Large Deletion/Duplication Analysis, Varies
Diagnosis of Charcot-Marie-Tooth type 1A or hereditary neuropathy with liability to pressure palsies
RPDEI - Overview: Rapidly Progressive Dementia Evaluation Interpretation, Spinal Fluid
Interpretation of the Rapidly Progressive Dementia Evaluation
RPR13 - Overview: Respiratory Profile, Region 13, Southern Coastal California, Serum
Assessing sensitization to various inhalant allergens commonly found in the Southern Coastal California region Defining the allergen responsible for eliciting signs and symptoms Identifying allergens: -Responsible for allergic response...
Assessing sensitization to various inhalant allergens commonly found in the arid Southwest region, including the southern Arizona desert and the southern California desert Defining the allergen responsible for eliciting signs and...
Assessing sensitization to various inhalant allergens commonly found in the Rocky Mountain region including Arizona, Colorado, Idaho, New Mexico, Utah, and Wyoming Defining the allergen responsible for eliciting signs and symptoms...
RPR2 - Overview: Respiratory Profile, Region 2, Mid-Atlantic (DC, DE, MD, NC, VA), Serum
Assessing sensitization to various inhalant allergens commonly found in the Mid-Atlantic region including the District of Columbia, Delaware, Maryland, North Carolina, and Virginia Defining the allergen responsible for eliciting signs and...
POLET - Overview: POLE Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the POLE gene to assist in tumor diagnosis/classification
PTH2 - Overview: Parathyroid Hormone, Serum
Diagnosis and differential diagnosis of hypercalcemia Diagnosis of primary, secondary, and tertiary hyperparathyroidism Diagnosis of hypoparathyroidism Monitoring kidney failure patients for possible renal osteodystrophy
RFPN - Overview: Rheumatoid Factor Panel, Serum
Evaluating patients at-risk of rheumatoid arthritis (RA) or features of inflammatory arthritis Differentiating the antibody isotype profile in patients positive for rheumatoid factor (RF) Aid in the risk stratification of RF-seropositive...
RPR14 - Overview: Respiratory Profile, Region 14, Central California, Serum
Assessing sensitization to various inhalant allergens commonly found in Central California Defining the allergen responsible for eliciting signs and symptoms Identifying allergens: -Responsible for allergic response and/or anaphylactic...
EPO - Overview: Erythropoietin, Serum
An aid in distinguishing between primary and secondary polycythemia Differentiating between appropriate secondary polycythemia (eg, high-altitude living, pulmonary disease, tobacco use) and inappropriate secondary polycythemia (eg,...
XL2T - Overview: FOXL2 Mutation Analysis, Next-Generation Sequencing, Tumor
Assisting in the clinical diagnosis of adult granulosa cell tumor by assessing gene targets with in the FOXL2 gene
Site Search
newborn_screen_follow-up_for_glucose-6-phosphate_dehydrogenase__g-6-pd__deficiency.pdf
Foundation for Medical Education and Research (MFMER). All rights reserved. 03/2024 Decreased glucose-6-phosphate dehydrogenase (G6PD) Not G6PD deficiency. In infants with hyperbilirubinemia, consider...
Multi-Factor Authentication for Mayo Clinic Laboratories Applications User’s Guide Page 2 6/27/2024 Multi-Factor Authentication User’s Guide TABLE OF CONTENTS Introduction ....................
glucose-6-phosphate-dehydrogenase-deficiency-diagnostic-algorithm.pdf
© Mayo Foundation for Medical Education and Research (MFMER). All rights reserved. Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency Diagnostic Algorithm * If patient status is post-allogeneic stem...
glucose-6-phosphate-dehydrogenase-genotyping-interpretive-algorithm.pdf
In the following situations, order G6PDZ / Glucose-6-Phosphate Dehydrogenase (G6PD) Full Gene Sequencing: ■ To determine carrier status (female patient) or affected status (male patient) ■ Previous...
Six ways innovative lupus tests are transforming patient and clinician experiences - Insights
The Lupus Foundation of America estimates that at least five million people worldwide have a form of lupus. Yet, the most widely used laboratory tests for patients with this complex condition were developed more than 60 years ago, and...