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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...

PMAOG - Overview: Postmortem Aortopathy Gene Panel, Tissue

Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death attributed to thoracic aortic dissection or with a personal or family history suggestive of Marfan syndrome, Loeys-Dietz syndrome, thoracic aortic...

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...

NY State Informed Consent Tests - Mayo Clinic Laboratories

NY State Informed Consent Tests New York State clients are required by New York State regulations to have completed informed-consent forms on file. When ordering the following tests, all NYS clients are required to indicate to...

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...

ALPSG - Overview: Autoimmune Lymphoproliferative Syndrome (ALPS) Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of autoimmune lymphoproliferative syndrome (ALPS) or related disorders Establishing a diagnosis of ALPS or a related disorder, allowing...

UCDP - Overview: Urea Cycle Disorders Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of a urea cycle disorder (UCD) Establishing a molecular diagnosis for patients with a UCD Identifying variants within genes known to be associated with UCD, allowing for predictive...

CDGF - Overview: Celiac Disease Gluten-Free Cascade, Serum and Whole Blood

Evaluating patients suspected of having celiac disease who are currently (or were recently) on a gluten-free diet

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...

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...

IMMAU - Overview: Inborn Errors of Immunity with Immune Dysregulation and Autoimmunity Gene Panel, Varies

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...

BLPMF - Overview: B-Cell Lymphoma, Specified FISH, Varies

Detecting, at diagnosis, common chromosome abnormalities associated with specific B-cell lymphoma subtypes using client specified FISH probes

CFTRN - Overview: Cystic Fibrosis Transmembrane Conductance Regulator, CFTR, Full Gene Analysis, Varies

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...

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

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

VHLE - Overview: VHL Gene, Erythrocytosis, Mutation Analysis, Varies

Diagnosis of suspected JAK2-negative VHL-related erythrocytosis associated with lifelong sustained increased RBC mass, elevated RBC count, hemoglobin, or hematocrit

WEGG - Overview: Whole Egg, IgE, Serum

Establishing a diagnosis of an allergy to whole egg Defining the allergen responsible for eliciting signs and symptoms Identifying allergens: -Responsible for allergic response and/or anaphylactic episode -To confirm sensitization prior...

VWD8B - Overview: von Willebrand Disease 2N (Subtype Normandy), Plasma

Diagnosing von Willebrand disease (VWD) type 2N Evaluating patients diagnosed with mild-to-moderate hemophilia A with an autosomal inheritance pattern Evaluating hemophilia A patients with a shortened survival of infused factor VIII...

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...

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

IGA - Overview: Immunoglobulin A (IgA), Serum

Detection or monitoring of IgA monoclonal gammopathies and IgA-related immune deficiencies

HELIS - Overview: Helicobacter pylori Culture with Antimicrobial Susceptibilities, Varies

Recovery of Helicobacter pylori from gastric specimens for antimicrobial susceptibility testing of the organism (amoxicillin, clarithromycin, levofloxacin, metronidazole, rifampin, and tetracycline are routinely tested)

AFH - Overview: Factor H Autoantibody, Serum

Detection and quantification of antibodies to factor H Monitoring patients with known factor H autoantibodies Aiding in the differential diagnosis of thrombotic microangiopathy and C3 glomerulopathies

GPSYW - Overview: Glucopsychosine, Blood

Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified Diagnosis and monitoring of patients with Gaucher disease using whole blood specimens Supporting the biochemical diagnosis of...

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

WBGDR - Overview: Beta-Globin Gene Cluster Deletion/Duplication, Blood

Determining the etiology of hereditary persistence of fetal hemoglobin (HPFH), delta-beta thalassemia, or other large deletions involving the beta-globin gene cluster Diagnosing less common causes of beta-thalassemia; these large...

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...

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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...

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...

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-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...

com/-/media/it-mmfiles/Special%20Instructions/3/5/6/Acute%20Tick%20Borne%20Disease%20Testing%20Algorithm%20int...

04/2024© Mayo Foundation for Medical Education and Research (MFMER). All rights reserved. Acute Tickborne Disease Testing Algorithm for Mayo Clinic Order: SFGP / Spotted Fever Group Antibody, IgG and IgM, Serum Empiric treatment...