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Test Catalog
BALPF - Overview: B-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Pediatric, FISH, Varies
Detecting, at diagnosis, recurrent common chromosome abnormalities associated with B-cell acute lymphoblastic leukemia/lymphoma (B-ALL/LBL) and Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL) in pediatric patients...
Assessing cytomegalovirus (CMV)-specific immune competence in allo-hematopoietic stem cell transplantation patients who are at risk for developing late CMV disease (beyond day 100 after transplant) Assessing CMV-specific immune competence...
FHPL - Overview: Human Placental Lactogen (HPL)
Human Placental Lactogen (HPL)
FPALI - Overview: Paliperidone, Serum
Paliperidone, Serum
BALAF - Overview: B-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), FISH, Adult, Varies
Detecting, at diagnosis, recurrent common chromosome abnormalities associated with B-cell acute lymphoblastic leukemia/lymphoma (B-ALL/LBL) and Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL) in adult patients As...
Evaluation of pediatric bone marrow and peripheral blood specimens by fluorescence in situ hybridization probe analysis for classic rearrangements and chromosomal copy number changes associated with B-cell acute lymphoblastic...
ALBLD - Overview: Bleeding Diathesis Profile, Limited, Plasma
Detection of the more common potential causes of abnormal bleeding (eg, factor deficiencies/hemophilia, von Willebrand disease, factor-specific inhibitors) and a simple screen to evaluate for an inhibitor or severe deficiency of factor XIII...
Evaluating congenital fibrinogen disorders (CFD) in patients with a personal or family history suggestive of a fibrinogen disorder Confirming a CFD diagnosis with the identification of known or suspected disease-causing alterations in the...
LDALD - Overview: Lysosomal and Peroxisomal Disorders Newborn Screen, Blood Spot
First-tier newborn screen for the lysosomal disorders: Fabry, Gaucher, Krabbe, mucopolysaccharidosis I (MPS I) and II (MPS II), infantile neurovisceral or chronic visceral acid sphingomyelinase deficiency, and Pompe (glycogen storage...
MAFP1 - Overview: Alpha-Fetoprotein (AFP), Single Marker Screen, Maternal, Serum
Prenatal screening for open neural tube defect
BAP1Z - Overview: BAP1-Tumor Predisposition Syndrome, BAP1 Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of BAP1-tumor predisposition syndrome (BAP1-TPDS) Establishing a diagnosis of BAP1-TPDS allowing for targeted cancer surveillance based on associated risks Identifying...
AAQP - Overview: Amino Acids, Quantitative, Plasma
Evaluating patients with possible inborn errors of metabolism using plasma specimens May aid in evaluation of endocrine disorders, liver diseases, muscle diseases, neoplastic diseases, neurological disorders, nutritional disturbances,...
ATPCO - Overview: Anal ThinPrep Cytology with Human Papillomavirus (HPV) Co-Test, Varies
Detection of malignant and premalignant changes Detection of high-risk (HR) genotypes associated with the development of anal cancer Individual genotyping of human papillomavirus (HPV)-16 and HPV-18, if present May aid in triaging men...
HCVQG - Overview: Hepatitis C Virus (HCV) RNA Quantification with Reflex to HCV Genotype, Serum
Detection of acute hepatitis C virus (HCV) infection before the appearance of HCV antibodies in serum (ie, <2 months from exposure) Detection and confirmation of chronic HCV infection and determining HCV genotype (1 to 5) to guide...
IETG - Overview: Interference Evaluation Heterophile, Thyroglobulin Tumor Marker, Serum
Evaluation of suspected interference from heterophile antibodies causing a falsely elevated thyroglobulin result
CORTC - Overview: Corticosterone, Serum
Diagnosis of suspected 11-hydroxylase deficiency, including the differential diagnosis of 11-beta-hydroxylase 1 (CYP11B1) versus 11-beta-hydroxylase 2 (CYP11B2) deficiency, and the diagnosis of glucocorticoid-responsive hyperaldosteronism...
HBGSN - Overview: Hepatitis B Virus Surface Antigen Screen, Serum
Diagnosis of acute, recent, or chronic hepatitis B Determination of chronic hepatitis B status This test is not offered as a screening or confirmatory test for blood donor specimens. This test is not useful for diagnosis of hepatitis...
C2AD2 - Overview: PrecivityAD2, Plasma
Assisting in the evaluation of adult patients, aged 55 years and older, with signs or symptoms of mild cognitive impairment or dementia who are being assessed for Alzheimer disease and other causes of cognitive decline This is not...
STK1Z - Overview: Peutz-Jeghers Syndrome, STK11, Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of Peutz-Jeghers syndrome (PJS) Establishing a diagnosis of PJS allowing for targeted cancer surveillance based on associated risks Identifying variants within genes known...
PGDBS - Overview: Plasmalogens, Blood Spot
Diagnosing patients with possible peroxisomal disorders, such as peroxisomal biogenesis disorders (Zellweger syndrome spectrum) and rhizomelic chondrodysplasia punctata (RCDP), including fatty acyl-CoA reductase 1 (FAR1)...
RBCME - Overview: Red Blood Cell Membrane Evaluation, Blood
Investigation of suspected red cell membrane disorders, such as hereditary spherocytosis or hereditary pyropoikilocytosis This test is not useful for hereditary elliptocytosis.
CATPA - Overview: Catecholamine, Endocrine Study, Plasma
Diagnosis of pheochromocytoma and paraganglioma in specimens collected from individuals in both supine and standing positions, as an auxiliary test to fractionated plasma and urine metanephrine measurements Diagnosis and follow-up of...
SPBX - Overview: Epidermal Nerve Fiber Density Consultation, Varies
Investigating polyneuropathies
MISCF - Overview: Miscellaneous Studies Using Chromosome-Specific Probes, FISH
Resolution of unusual or complex structural alterations, questionable mosaicism, and unbalanced chromosome abnormalities that cannot be resolved by chromosome or chromosomal microarray analysis Identifying gain, loss, or rearrangement of...
MCMLN - Overview: MayoComplete Melanoma Panel, Next-Generation Sequencing, Tumor
Determining if patients will respond to targeted therapy Assessing microsatellite instability for immunotherapy decisions
MCM24 - Overview: Mast Cell Mediators, 24 Hour, Urine
Evaluating patients at risk for mast cell activation syndrome (eg, systemic mastocytosis) using 24-hour urine collections
Simultaneous detection and differentiation of SARS-CoV-2 (cause of COVID-19), influenza A virus, influenza B virus, and respiratory syncytial virus in upper or lower respiratory tract specimens from individuals with flu-like illnesses
TTGG - Overview: Tissue Transglutaminase Antibody, IgG, Serum
Individuals with IgA deficiency Evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased risk (family history, previous...
TLYM - Overview: T-Cell Lymphoma, FISH, Tissue
Detecting common, recurrent chromosome abnormalities in various T-cell lymphomas in paraffin-embedded tissue specimens at diagnosis Providing prognostic information in patients with documented systemic ALK-negative anaplastic large cell...
Diagnosing specific soft tissue and bone tumors (sarcoma) based on the observed gene fusions (eg, PAX3/FOXO1 gene fusion observed in alveolar rhabdomyosarcoma, EWSR1-FLI1 gene fusion for Ewing sarcoma, SS18-SSX1/2 gene fusion for synovial...
BLWRF - Overview: Walnut-Food, IgE, with Reflex to Walnut-Food Components, IgE, Serum
Evaluation of patients with suspected walnut-food allergy
CPVTG - Overview: Catecholaminergic Polymorphic Ventricular Tachycardia Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of catecholaminergic polymorphic ventricular tachycardia (CPVT) Establishing a diagnosis of CPVT
CSFP - Overview: Carrier Screen, Focused Panel, Varies
Expanded carrier screening for reproductive risk assessment purposes This test is not useful for clinical diagnosis of an affected individual.
DPYDQ - Overview: Dihydropyrimidine Dehydrogenase Genotype, Varies
Identifying individuals with genetic variants in DPYD who are at increased risk of toxicity when prescribed 5-fluorouracil (5-FU) or capecitabine chemotherapy treatment
IDHT - Overview: IDH1 and IDH2 Mutation Analyses, Next-Generation Sequencing, Tumor
Identifying specific mutations within the IDH1 and IDH2 genes that assist in tumor diagnosis/classification and predict response to targeted therapy
BA48F - Overview: Bile Acids, Bowel Dysfunction, 48 Hour, Feces
Aids in evaluation of patients suspected of having irritable bowel syndrome-diarrhea symptoms due to bile acid malabsorption
SPAS - Overview: Arsenic Speciation, Random, Urine
Diagnosing arsenic intoxication using random urine specimens
ALLOI - Overview: Allo-isoleucine, Blood Spot
Evaluation of newborn screening specimens that test positive for branched-chain amino acids elevations Follow-up of patients with maple syrup urine disease
AN3TC - Overview: Antineuronal Nuclear Antibody Type 3 (ANNA-3) Titer, Spinal Fluid
Evaluating patients who present with a subacute neurological disorder of undetermined etiology and have risk factors for primary lung carcinoma Reporting an end titer result from cerebrospinal fluid specimens
AN1TC - Overview: Antineuronal Nuclear Antibody-Type 1 (ANNA-1) Titer, Spinal Fluid
Diagnosis of paraneoplastic autoimmune neuropathies, encephalomyeloradiculopathies, related neurologic disorders, and intestinal pseudo-obstruction/dysmotility associated with small-cell lung carcinoma Reporting an end titer result from...
AN3TS - Overview: Antineuronal Nuclear Antibody Type 3 (ANNA-3) Titer, Serum
Evaluating patients who present with a subacute neurological disorder of undetermined etiology and have risk factors for primary lung carcinoma Reporting an end titer result from serum specimens
AN2TS - Overview: Antineuronal Nuclear Antibody Type 2 (ANNA-2) Titer, Serum
Investigating middle-aged or older patients who present with unexplainable signs of midbrain/cerebellar/brain stem disorder and/or myelopathy, especially women with a previous history of breast cancer, and both sexes if there is a history...
SIL2R - Overview: Interleukin-2 Receptor Alpha Soluble, Plasma
Measuring the concentration of soluble interleukin-2 receptor alpha (sIL-2r alpha) in plasma Aids in the diagnosis and evaluation of patients for lymphoproliferative disorders, including autoimmune lymphoproliferative syndrome,...
CTXWB - Overview: Cerebrotendinous Xanthomatosis, Blood
Evaluating patients with a clinical suspicion of cerebrotendinous xanthomatosis (CTX) Monitoring of individuals with CTX on chenodeoxycholic acid (CDCA) therapy This test is not useful for the identification of carriers. This test is...
CRBF - Overview: Creatinine, Body Fluid
Identifying the presence of urine as a cause for accumulation of fluid in a body compartment Measuring the ultrafiltration capacity of the peritoneal membrane in patients receiving peritoneal dialysis
CORTU - Overview: Cortisol, Free, 24 Hour, Urine
Preferred screening test for Cushing syndrome Diagnosis of pseudo-hyperaldosteronism due to excessive licorice consumption Test may not be useful in the evaluation of adrenal insufficiency.
HEX4 - Overview: Glucotetrasaccharides, Random, Urine
Diagnosing Pompe disease, when used in conjunction with acid alpha-glucosidase enzyme activity assays and molecular genetic analysis of the GAA gene Monitoring patients with Pompe disease on enzyme replacement therapy May support the...
LGB3S - Overview: Globotriaosylsphingosine, Serum
Diagnosis and monitoring of Fabry disease
Determining overexpression of HER2 protein on formalin-fixed, paraffin-embedded tissue sections in ductal carcinoma in situ or solid/intracystic papillary carcinoma breast tissue with a reflex to FISH testing if the specimen is equivocal...
GALP - Overview: Galactose, Quantitative, Plasma
Screening for galactosemia
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...