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LRBA - Overview: Lipopolysaccharide-Responsive Beige-Like Anchor Protein (LRBA) Deficiency, Blood

Aiding in the diagnosis of lipopolysaccharide-responsive beige-like anchor protein (LRBA) deficiency This test is not useful for identifying a carrier status for LRBA deficiency.

T3 - Overview: T3 (Triiodothyronine), Total, Serum

Second-order testing for hyperthyroidism in patients with low thyroid-stimulating hormone values and normal thyroxine levels Diagnosing triiodothyronine (T3) toxicosis This test is not useful for general screening of the population...

SUAC - Overview: Succinylacetone, Blood Spot

Second-tier newborn screen for tyrosinemia type 1 (HT-1) when primary screen showed nonspecific elevations of tyrosine Diagnosing HT-1 when used in conjunction with testing for urine organic acids, liver function, alpha-fetoprotein, and...

VWFMP - Overview: von Willebrand Factor Multimer Analysis, Plasma

As a reflex component of several coagulation consultation unit codes, when indicated When results of complementary laboratory tests are abnormally low or discordant (eg, F8A / Coagulation Factor VIII Activity Assay, Plasma; VWACT / von...

HMGCR - Overview: 3-Hydroxy-3-Methylglutaryl Coenzyme-A (HMG-CoA) Reductase, Serum

Evaluating patients with suspected necrotizing autoimmune myopathy Measuring 3-hydroxy-3-methylglutaryl-CoA reductase antibodies

TDP - Overview: Thiamine (Vitamin B1), Whole Blood

Assessment of thiamine deficiency Measuring thiamine levels in patients with behavioral changes, eye signs, gait disturbances, delirium, and encephalopathy; or in patients with questionable nutritional status, especially those who appear...

LMPP - Overview: Lipoprotein Metabolism Profile, Serum

Diagnosing dyslipoproteinemia Quantifying cholesterol and triglycerides in very-low-density lipoprotein, low-density lipoprotein (LDL), high-density lipoproteins (HDL), and chylomicrons Identifying lipoprotein-X Classifying...

AIAES - Overview: Axonal Neuropathy, Autoimmune/Paraneoplastic Evaluation, Serum

Evaluation of patients who present with a subacute neurological disorder of undetermined etiology, especially those with known risk factors for cancer Directing a focused search for cancer Investigating neurological symptoms that appear...

AATHR - Overview: Thrombophilia Profile, Plasma and Whole Blood

Evaluating patients with thrombosis or hypercoagulability states Detecting a lupus-like anticoagulant; dysfibrinogenemia; disseminated intravascular coagulation/intravascular coagulation and fibrinolysis Detecting a deficiency of...

NY State Informed Consent Tests - Mayo Clinic Laboratories

Test Catalog AlgorithmsDownload Test Catalog & Interpretive HandbookNew TestsNY State Informed Consent TestsPerforming LocationsReferred TestsSpecialty TestingTest Updates...

GNANT - Overview: Antithrombin Deficiency, SERPINC1 Gene, Next-Generation Sequencing, Varies

Evaluating antithrombin AT deficiency in patients with a personal or family history suggestive of this hereditary thrombophilia Confirming an AT deficiency diagnosis with the identification of a known or suspected disease-causing...

GNPRS - Overview: Protein S Deficiency, PROS1 Gene, Next-Generation Sequencing, Varies

Evaluating protein S deficiency in patients with a personal or family history suggestive of this hereditary thrombophilia Confirming a diagnosis of autosomal dominant protein S deficiency with the identification of a known or suspected...

RPB - Overview: Respiratory Panel, PCR, Varies

Rapid detection of respiratory infections caused by the following: -Adenovirus -Coronavirus serotypes HKU1, NL63, 229E, OC43 -SARS-CoV-2 -Human metapneumovirus -Human rhinovirus/enterovirus -Influenza A subtypes H1, H1-2009, H3, influenza A...

GNPRC - Overview: Protein C Deficiency, PROC Gene, Next-Generation Sequencing, Varies

Evaluating protein C deficiency in patients with a personal or family history suggestive of this hereditary thrombophilia Confirming a diagnosis of autosomal dominant protein C deficiency with the identification of a known or suspected...

BRTP - Overview: Rapid Hereditary Breast Cancer Treatment Decision Panel, Varies

Establishing a diagnosis of a hereditary breast cancer syndrome allowing for surgical and management decision making Determining therapeutic eligibility with poly (adenosine diphosphate-ribose) polymerase inhibitors based on certain gene...

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...

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...

CRCGP - Overview: Hereditary Gastrointestinal Cancer Panel, Varies

Evaluating patients with a personal or family history suggestive of a hereditary gastrointestinal cancer or hereditary polyposis syndrome Establishing a diagnosis of a hereditary gastrointestinal cancer syndrome or hereditary polyposis...

HEXBZ - Overview: Sandhoff Disease, HEXB Gene, Full Gene Analysis, Varies

Follow up for abnormal biochemical results suggestive of Sandhoff disease Establishing a molecular diagnosis for patients with Sandhoff disease Identifying variants within genes known to be associated with Sandhoff disease, allowing for...

CFRC - Overview: Bacterial Culture, Cystic Fibrosis, Respiratory

Detecting disease-causing aerobic bacteria in specimens from patients with cystic fibrosis

ASOU - Overview: Arsenic Occupational Exposure, Random, Urine

Screening test for detection of occupational exposure to arsenic in random urine specimens

ALADW - Overview: Aminolevulinic Acid Dehydratase, Washed Erythrocytes

Confirmation of a diagnosis of aminolevulinic acid dehydratase deficiency porphyria using washed erythrocyte specimens This test is not useful for detecting lead intoxication.

APCRV - Overview: Activated Protein C Resistance V (APCRV), Plasma

Evaluation of patients with incident or recurrent venous thromboembolism (VTE) Evaluation of individuals with a family history of VTE

AGNTC - Overview: Anti-Glial/Neuronal Nuclear Antibody-Type 1 (AGNA-1) Titer, Spinal Fluid

Reporting an end titer result from cerebrospinal fluid (CSF) specimens Serological evaluation using CSF specimens from patients who present with a subacute neurological disorder of undetermined etiology, especially those with risk factors...

HOLDC - Overview: Hematologic Disorders, Chromosome Hold, Varies

Holding the bone marrow or peripheral blood specimen in the laboratory but delaying chromosome analysis while preliminary morphologic assessment is in process

CRCOF - Overview: Chromium and Cobalt, Synovial Fluid

Monitoring metallic prosthetic implant wear and local tissue destruction in failed hip arthroplasty constructs This test is not useful for assessment of vitamin B12 activity.

COCOU - Overview: Cortisol/Cortisone, Free, 24 Hour, Urine

Screening test for Cushing syndrome (hypercortisolism) Assisting in diagnosing acquired or inherited abnormalities of 11-beta-hydroxy steroid dehydrogenase (cortisol to cortisone ratio) Diagnosis of pseudo-hyperaldosteronism due to...

CRMTC - Overview: Collapsin Response-Mediator Protein-5 (CRMP-5) Neuronal IgG Titer, Spinal Fluid

Evaluation of neuroautoimmunity, particularly small-cell lung carcinoma and thymoma, in conjunction with other antineuronal antibodies Reporting an end titer result from cerebrospinal fluid specimens

HSVC - Overview: Herpes Simplex Virus (HSV), Molecular Detection, PCR, Spinal Fluid

Aiding in the rapid diagnosis of herpes simplex virus (HSV)-1 and HSV-2 infections of the central nervous system

NMHR - Overview: N-Methylhistamine, Random, Urine

Screening for and monitoring of mastocytosis and disorders of systemic mast-cell activation, such as anaphylaxis and other forms of severe systemic allergic reactions using random urine specimens Monitoring therapeutic progress in...

PMND1 - Overview: Primary Membranous Nephropathy Diagnostic Cascade, Serum

Distinguishing primary from secondary membranous nephropathy using an algorithmic approach Monitoring patients with membranous nephropathy at very low antibody titers Screening for anti-phospholipase A2 receptor antibodies

PAI1 - Overview: Plasminogen Activator Inhibitor Antigen, Plasma

Identification of heredity elevation or deficiency of plasminogen activator inhibitor type 1 Determination of risk for veno-occlusive disease associated with bone marrow transplantation Differential diagnosis of impaired fibrinolysis...

PYR - Overview: Pyruvic Acid, Blood

Screening for possible disorders of mitochondrial metabolism, when used in conjunction with blood lactate collected at the same time, to determine the lactate-to-pyruvate ratio

PBALP - Overview: Porphobilinogen and Aminolevulinic Acid, Plasma

An equivalent option to urine for first-line test for evaluation of a suspected acute porphyria Monitoring patients undergoing treatment for an acute intermittent porphyria or other acute porphyria

EGWTP - Overview: Egg White Component Profile, Serum

Identifying egg white allergens: -Responsible for allergic disease and/or anaphylactic episode -To confirm sensitization prior to beginning immunotherapy This test is not useful for patients previously treated with immunotherapy to...

EGGPF - Overview: Egg Comprehensive Profile, Serum

Identifying egg allergens: -Responsible for allergic disease and/or anaphylactic episode -To confirm sensitization prior to beginning immunotherapy This test is not useful for patients previously treated with immunotherapy to determine if...

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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...