Search Results
Test Catalog
FFSPG - Overview: Fish and Shellfish Panel IgG
Fish and Shellfish Panel IgG
FPAB - Overview: Vitamin B5 (Pantothenic Acid) Bioassay
Vitamin B5 (Pantothenic Acid) Bioassay
GNBLF - Overview: Bleeding Disorders, Focused Gene Panel, Next-Generation Sequencing, Varies
Evaluating hereditary bleeding in patients with a personal or family history suggestive of a hereditary bleeding disorder and initial laboratory testing results are suggestive for factors VII, VIII, IX, or XI deficiency, or a von Willebrand...
GNHTC - Overview: Hereditary Thrombocytopenia Gene Panel, Next-Generation Sequencing, Varies
Evaluating hereditary thrombocytopenia disorders in patients with a personal or family history suggestive of a hereditary thrombocytopenia disorder Diagnosing hereditary thrombocytopenia disorders for patients in whom phenotypic testing is...
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...
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...
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,...
GNMTC - Overview: Macro/Microthrombocytopenia Gene Panel, Next-Generation Sequencing, Varies
Evaluating hereditary macro- or microthrombocytopenia disorders in patients with a personal or family history suggestive of a hereditary macro- or microthrombocytopenia disorder Diagnosing hereditary macro- or microthrombocytopenia...
ALAGP - Overview: Alagille Syndrome Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Alagille syndrome Establishing a diagnosis of Alagille syndrome
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of Epstein-Barr virus (EBV) susceptibility or a heritable predisposition to lymphoproliferative disease Establishing a diagnosis of a...
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,...
PCDES - Overview: Pediatric Autoimmune Encephalopathy/CNS Disorder Evaluation, Serum
Evaluating children with autoimmune central nervous system disorders using serum specimens
CARGG - Overview: Comprehensive Arrhythmia Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of cardiac arrhythmia Establishing a diagnosis of a hereditary form of cardiac arrhythmia
ARVGG - Overview: Arrhythmogenic Cardiomyopathy Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of arrhythmogenic cardiomyopathy Establishing a diagnosis of a hereditary form of arrhythmogenic cardiomyopathy
SMCP - Overview: Inherited Skeletal Muscle Channelopathy Gene Panel, Varies
Establishing a molecular diagnosis for patients with a skeletal muscle channelopathy Identifying variants within genes known to be associated with a skeletal muscle channelopathy allowing for predictive testing of at-risk family members
CJDE - Overview: Creutzfeldt-Jakob Disease Evaluation, Spinal Fluid
Assessment of Creutzfeldt-Jakob disease or other human prion disease in patients with rapidly progressive dementia
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...
GCT - Overview: Galactosemia Reflex, Blood
Preferred test for diagnosis, carrier detection, and determination of genotype of galactose-1-phosphate uridyltransferase deficiency, the most common cause of galactosemia Differentiating Duarte variant galactosemia from classic...
NAGS - Overview: Hexosaminidase A and Total Hexosaminidase, Serum
Carrier detection and diagnosis of Tay-Sachs disease and Sandhoff disease Ruling out I-cell disease This test is not useful for pregnant females or those treated with hormonal contraception.
NFLP - Overview: Neurofilament Light Chain, Plasma
Assessing neuronal damage related to various neurodegenerative diseases
PQNU - Overview: Porphyrins, Quantitative, 24 Hour, Urine
Preferred screening test for congenital erythropoietic porphyria and porphyria cutanea tarda and during symptomatic periods for acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria when specimen transport will be...
DRV3 - Overview: Dilute Russell's Viper Venom Time (DRVVT) Confirmation, Plasma
Confirming the presence or absence of lupus anticoagulants (LA) Identifying LA that do not prolong the activated partial thromboplastin time (APTT) Evaluating unexplained prolongation of the APTT or prothrombin time clotting tests...
LYMPV - Overview: Lyme Disease, Molecular Detection, PCR, Varies
Supporting the diagnosis of Lyme disease in conjunction with serologic testing Specific indications including testing skin biopsies when a rash lesion is not characteristic of erythema migrans and testing synovial fluid or synovium to...
MCSMP - Overview: MayoComplete Sarcoma Mutation 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...
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
MCLBP - Overview: MayoComplete Liquid Biopsy Panel, Next-Generation Sequencing, Cell-Free DNA
As an alternative to invasive tissue biopsies to assist in tumor profiling for diagnosis, predicting prognosis, and identifying targeted therapies for the treatment and management of patients with solid tumors As an alternative to invasive...
SOD1Z - Overview: SOD1 Gene, Full Gene Analysis, Varies
Establishing a molecular diagnosis for patients with amyotrophic lateral sclerosis (ALS) Identifying variants within SOD1 known to be associated with ALS, allowing for predictive testing of at-risk family members
SEP9Z - Overview: SEPTIN9 Gene, Full Gene Analysis, Varies
Establishing a molecular diagnosis for patients with hereditary neuralgic amyotrophy Identifying variants within SEPTIN9 known to be associated with hereditary neuralgic amyotrophy, allowing for predictive testing of at-risk family members
TBNY - Overview: T, B and NK Lymphocyte Quantitation, New York, Blood
Only orderable by New York clients Serial monitoring of CD4 T-cell count in patients who are HIV-positive Follow-up and diagnostic evaluation of primary immunodeficiencies, including severe combined immunodeficiency Immune monitoring...
DOCS - Overview: 11-Deoxycorticosterone, Serum
Diagnosis of suspected 11-hydroxylase deficiency, including the differential diagnosis of 11-beta-hydroxylase 1 (CYP11B1) versus 11-beta-hydroxylase 2 (CYP11B2) deficiency Diagnosis of glucocorticoid-responsive...
EDSGG - Overview: Ehlers-Danlos Syndrome Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Ehlers-Danlos syndrome and related conditions Establishing a diagnosis for Ehlers-Danlos syndrome, X-linked occipital horn syndrome, X-linked...
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
DMDZ - Overview: DMD Gene, Full Gene Analysis, Varies
Establishing a molecular diagnosis for patients with Duchenne muscular dystrophy and Becker muscular dystrophy Identifying variants within DMD known to be associated with Duchenne muscular dystrophy or Becker muscular dystrophy, allowing...
MCCRC - Overview: MayoComplete Colorectal Cancer Panel, Next-Generation Sequencing, Tumor
Primarily for determining patient response to various targeted therapies or immunotherapy Predicting prognosis from microsatellite instability status
HFET - Overview: Hereditary Hemochromatosis, HFE Variant Analysis, Varies
Establishing or confirming the clinical diagnosis of hereditary hemochromatosis (HH) in adults Testing of individuals with increased serum transferrin-iron saturation and ferritin Predictive testing of individuals who have a family...
EDMDP - Overview: Inherited Emery-Dreifuss Gene Panel, Varies
Establishing a molecular diagnosis for patients with Emery-Dreifuss muscular dystrophy Identifying variants within genes known to be associated with Emery-Dreifuss muscular dystrophy, allowing for predictive testing of at-risk family...
ESR1T - Overview: ESR1 Mutation Analysis, Next-Generation Sequencing, Tumor
Assisting in the clinical management of patients with metastatic breast cancer by identifying tumors with evolving resistance to endocrine therapy Stratifying prognosis of metastatic breast cancer
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
HCMGG - Overview: Hypertrophic Cardiomyopathy Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of hypertrophic cardiomyopathy Establishing a diagnosis of a hereditary form of hypertrophic cardiomyopathy
GBAZ - Overview: Gaucher Disease, Full Gene Analysis, Varies
Confirmation of a diagnosis of Gaucher disease Carrier screening in cases where there is a family history of Gaucher disease, but an affected individual is not available for testing or disease-causing alterations have not been identified
CMSP - Overview: Inherited Congenital Myasthenic Syndrome Gene Panel, Varies
Establishing a molecular diagnosis for patients with congenital myasthenic syndrome Identifying variants within genes known to be associated with congenital myasthenic syndrome, allowing for predictive testing of at-risk family members
Aiding in the diagnosis of new cases of multiple myeloma or other plasma cell proliferative disorders using bone marrow specimens Identifying prognostic markers based on the abnormalities found This test should not be used to track the...
PADF - Overview: Prenatal Aneuploidy Detection, FISH
Screening for chromosomal aneuploidies of chromosomes 13, 18, 21, X, and Y in prenatal specimens
FALBU - Overview: Albuterol, Serum/Plasma
Albuterol, Serum/Plasma
FBSQU - Overview: Bath Salts Panel (Qualitative), Urine
Bath Salts Panel (Qualitative), Urine
BOAC - Overview: Boron, Serum/Plasma
Boron, Serum/Plasma
FBUMT - Overview: Bupropion and Metabolite, Serum
Bupropion and Metabolite, Serum
FBART - Overview: Bartonella Antibody Panel, IFA CSF
Bartonella Antibody Panel, IFA CSF
FGHSP - Overview: Gamma-Hydroxybutyric Acid (GHB), Serum/Plasma
Gamma-Hydroxybutyric Acid (GHB), Serum/Plasma
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mdazl-rhode-island-certification.pdf
0 Q £ IS l -t1 .,. ... ';.� +"'" ¾liNT 0� State of Rhode Island DEPARTMENT OF HEALTH Center for Health Facilities Regulation This is to certify that MAYO CLINIC MOLECULAR...
newborn_screen_follow-up_for_x-linked_adrenoleukodystrophy.pdf
(MFMER). All rights reserved. 03/2023 Newborn screen result: Elevated lysophosphatidylcholines C24:0, C26:0 Order POX / Fatty Acid Profile, Peroxisomal (C22-C26), Serum Elevated very long chain fatty a....
galactosemia_testing_algorithm.pdf
07/2024 GALT <24.5 nmol/h/mg of hemoglobin GALT ≥24.5 nmol/h/mg of hemoglobin 2 variants identified 0–1 variants identified and discordant enzyme results 1 variant identif......
critical-values-semi-urgent-results-list.pdf
High Units Activated Partial Thromboplastin Time, Plasma Any – ≥ 150 sec Fibrinogen Any ≤ 60 – mg/dL 0 – 7 weeks ≤ 6.0 ≥ 24.0 g/dL > 7 weeks ≤ 6.0 ≥ 20.0 g/dL INR (International Normalizing Ratio......
vitamin_b12_deficiency_evaluation.pdf
© Mayo Foundation for Medical Education and Research (MFMER). All rights reserved. 03/2022 Vitamin B12 Deficiency Evaluation <150 ng/L>400 ng/L 150-400 ng/L ≤0.4 nmol/mL >0.4 nmol/mL INDETERMINATE ACASM / Pernicious Anemia Cascade,...