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Test Catalog

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

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...

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

HCCAD - Overview: Hepatitis C Virus Antibody Screen, Cadaveric or Hemolyzed Specimens, Asymptomatic, Serum

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.

NMOFC - Overview: Neuromyelitis Optica (NMO)/Aquaporin-4-IgG Fluorescence-Activated Cell Sorting (FACS) Assay, Spinal Fluid

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

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...

RPR12 - Overview: Respiratory Profile, Region 12, Arid Southwest (Southern AZ Desert, Southern CA Desert), Serum

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...

RPR11 - Overview: Respiratory Profile, Region 11, Rocky Mountain (AZ [Mt]; CO; ID [Mt]; NM, UT [Mt]; WY), Serum

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...

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

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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...

mayocliniclabs.com/-/media/it-mmfiles/Special-Instructions/6/6/D/Multi-Factor-Authentication-User-Guide.pdf...

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...