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Test Catalog
NENZ - Overview: Red Blood Cell Enzyme Disorders Gene Panel, Next-Generation Sequencing, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an underlying red blood cell enzymopathy Identifying variants within genes associated with phenotypic severity, allowing for...
NMEM - Overview: Red Blood Cell Membrane Disorders Gene Panel, Next-Generation Sequencing, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of a red blood cell (RBC) membrane disorder Second-tier testing for patients in whom previous targeted gene variant analyses were...
Providing a genetic evaluation for patients with a personal or family history suggestive of recessive congenital methemoglobinemia Genotype confirmation of borderline cytochrome b5 reductase (methemoglobin reductase: METR) enzyme activity...
CACMG - Overview: Comprehensive Arrhythmia and Cardiomyopathy Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of either a cardiomyopathy or cardiac arrhythmia Establishing a diagnosis of a hereditary form of either a cardiomyopathy or...
As part of the diagnosis and workup of precocious and delayed puberty in females and, to a lesser degree, males As part of the diagnosis and workup of suspected disorders of sex steroid metabolism (eg, aromatase deficiency and 17...
Providing a genetic evaluation for patients with a personal or family history of steroid resistant nephrotic syndrome (SRNS) Establishing a diagnosis of hereditary SRNS Guiding treatment decisions in individuals with nephrotic syndrome
MCSTP - Overview: MayoComplete Solid Tumor Panel, Next-Generation Sequencing, Tumor
Assisting in tumor profiling for diagnosis, predicting prognosis, and identifying targeted therapies for the treatment and management of patients with solid tumors Identifying somatic alterations including single nucleotide variants, small...
TCRB - Overview: T-Cell Receptor V-Beta Repertoire Analysis, Spectratyping, Blood
Assessment of T-cell receptor diversity in various clinical contexts including inborn errors of immunity (formerly primary immunodeficiencies), monitoring immune reconstitution post-hematopoietic stem cell transplantation, and temporal...
WARSQ - Overview: Warfarin Response Genotype, Varies
Identifying patients who may require warfarin dosing adjustments(3,4) including: -Patients being started on a first prescription for warfarin -Patients who have previously been prescribed warfarin and have required multiple dosing...
3MGAP - Overview: 3-Methylglutaconic Aciduria Panel, Varies
Follow up for abnormal biochemical results suggestive of 3-methylglutaconic aciduria (3-MGA) Establishing a molecular diagnosis for patients with 3-MGA Identifying variants within genes known to be associated with3-MGA, allowing for...
Comprehensive evaluation of the GATA2 gene in patients with clinical or immunological symptoms suggestive of GATA-binding protein 2 (GATA2) deficiency Screening family members of patients with confirmed GATA2 deficiency
G6PDZ - Overview: Glucose-6-Phosphate Dehydrogenase (G6PD) Full Gene Sequencing, Varies
Genetic test for individuals at high risk for glucose-6-phosphate dehydrogenase (G6PD) deficiency Aiding in the diagnosis of G6PD deficiency Determining G6PD deficiency status in individuals with inconclusive or unexpected phenotyping...
ISNP - Overview: Inherited Sensory Neuropathy Gene Panel, Varies
Establishing a molecular diagnosis for patients with hereditary sensory (HSN) and autonomic neuropathy (HSAN) Identifying variants within genes known to be associated with HSN and HSAN, allowing for predictive testing of at-risk family...
Screening for cervical carcinoma or intraepithelial lesions and the presence or absence of high-risk human papillomavirus (HR-HPV) when screening women aged 30 to 65 years for possible cervical neoplasia Aiding in triaging women with...
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...
CMITO - Overview: Combined Mitochondrial Full Genome and Nuclear Gene Panel, Varies
Diagnosing mitochondrial disease that results from variants in either nuclear-encoded genes or the mitochondrial genome A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial...
Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary hemorrhagic telangiectasia (HHT), cerebral cavernous malformation (CCM), capillary malformation-arteriovenous malformation syndrome...
Screening for common variable immunodeficiency and hyper-IgM syndromes Assessing B-cell subset reconstitution after stem cell or bone marrow transplant Assessing response to B-cell-depleting immunotherapy This test is not indicated...
FCDU5 - Overview: Amphetamines, Umbilical Cord Tissue
Amphetamines, Umbilical Cord Tissue
FCDU4 - Overview: Novel Psychoactives, Umbilical Cord Tissue
Novel Psychoactives, Umbilical Cord Tissue
BILEA - Overview: Bile Acids, Total, Serum
An aid in the evaluation of liver function Evaluation of liver function changes before the formation of more advanced clinical signs of illness such as icterus An aid in the determination of hepatic dysfunction as a result of chemical and...
BARRP - Overview: Bartonella, Molecular Detection, PCR, Varies
Aiding in the diagnosis of Bartonella infection
A1APP - Overview: Alpha-1-Antitrypsin Phenotype, Serum
Identification of homozygous and heterozygous phenotypes of the alpha-1-antitrypsin deficiency
AMPHX - Overview: Amphetamines Confirmation, Chain of Custody, Random, Urine
Confirming drug exposure involving amphetamines such as amphetamine and methamphetamine, phentermine, pseudoephedrine/ephedrine, methylenedioxymethamphetamine, and methylenedioxyamphetamine. Providing chain-of-custody for when the results...
BUPR - Overview: Buprenorphine Screen with Reflex, Random, Urine
Screening and confirmation for drug abuse or use of buprenorphine
BPAB - Overview: Bullous Pemphigoid, BP180 and BP230, IgG Antibodies, Serum
Initial screening test in the diagnosis of bullous pemphigoid and its variants Complementing the standard serum test of indirect immunofluorescence utilizing primate esophagus substrate and primate salt-split skin substrate (CIFS /...
BTDZ - Overview: Biotinidase Deficiency, BTD Full Gene Analysis, Varies
Second-tier test for confirming biotinidase deficiency (indicated by biochemical testing or newborn screening) Carrier testing of individuals with a family history of biotinidase deficiency, but disease-causing mutations have not been...
SPASU - Overview: Arsenic Speciation, 24 Hour, Urine
Diagnosing arsenic intoxication using 24-hour urine specimens
ADAMS - Overview: ADAMTS13 Activity Assay, Plasma
Assisting with the diagnosis and monitoring of congenital, immune, or acquired thrombotic thrombocytopenic purpura
F8A - Overview: Coagulation Factor VIII Activity Assay, Plasma
Diagnosing hemophilia A Diagnosing von Willebrand disease when measured with the von Willebrand factor (VWF) antigen and VWF activity Diagnosing acquired deficiency states Investigation of prolonged activated partial thromboplastin...
HEVML - Overview: Hepatitis E Virus IgM Antibody Confirmation, Serum
Confirmation of reactive hepatitis E virus IgM antibody screening test results for the diagnosis of acute or recent (<6 months) hepatitis E infection
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,...
IGM - Overview: Immunoglobulin M (IgM), Serum
Detecting or monitoring of IgM monoclonal gammopathies and IgM-related immune deficiencies
IGG - Overview: Immunoglobulin G (IgG), Serum
Detecting or monitoring of IgG monoclonal gammopathies and immune deficiencies
INAB - Overview: Insulin Antibodies, Serum
Predicting the future development of type 1 diabetes in asymptomatic children, adolescents, and young adults, when used in conjunction with family history, human leukocyte antigen-typing, and other autoantibodies, including glutamic acid...
JAKXM - Overview: JAK2 Exon 12 and Other Non-V617F Mutation Detection, Bone Marrow
Second-order testing to aid in the distinction between a reactive cytosis and a myeloproliferative neoplasm, particularly when a diagnosis of polycythemia is being entertained; for use with bone marrow specimens
JCPCR - Overview: JC Virus, Molecular Detection, PCR, Spinal Fluid
Aiding in diagnosing progressive multifocal leukoencephalopathy due to JC virus This test is not to be used as a diagnostic tool for Creutzfeldt-Jakob disease This test is not recommended for screening asymptomatic patients
CMVLR - Overview: Cytomegalovirus (CMV) Molecular Detection, PCR, Lower Respiratory
Rapid qualitative detection of cytomegalovirus (CMV) DNA in lower respiratory specimens This test is not intended for the monitoring of CMV disease progression or response to therapy.
199PT - Overview: Carbohydrate Antigen 19-9 (CA 19-9), Peritoneal Fluid
An adjunct to cytology to differentiate between malignancy-related ascites and benign causes of ascites formation
TQ10 - Overview: Coenzyme Q10, Total, Plasma
Diagnosis of primary coenzyme Q10 (CoQ10) deficiencies in some patients who are not supplemented with CoQ10 Monitoring patients receiving statin therapy Monitoring CoQ10 status during treatment of various degenerative conditions,...
COKMX - Overview: Cocaine and Metabolite Confirmation, Chain of Custody, Meconium
Detecting in utero drug exposure up to 5 months before birth Chain of custody is required whenever the results of testing could be used in a court of law. Its purpose is to protect the rights of the individual contributing the specimen by...
SLFAT - Overview: Cryptococcus Antigen Titer, Lateral Flow Assay, Serum
Monitoring Cryptococcus antigen titers in serum Aiding in the diagnosis of cryptococcosis This test should not be used as a test of cure or to guide treatment decisions.
CH9 - Overview: Chromogenic Factor IX Activity Assay, Plasma
Monitoring coagulation factor replacement therapy of selected extended half-life coagulation factor replacements Aiding in the diagnosis of hemophilia B using a 2-stage assay, especially when a 1-stage assay was normal
LGB3S - Overview: Globotriaosylsphingosine, Serum
Diagnosis and monitoring of Fabry disease
HSVPB - Overview: Herpes Simplex Virus (HSV), Molecular Detection, PCR, Blood
Aiding in the rapid diagnosis of disseminated disease due to herpes simplex virus (HSV) Qualitative detection of HSV DNA This test should not be used to screen asymptomatic patients.
QFP - Overview: Q Fever IgM and IgG, Titer, Serum
Diagnosis of Coxiella burnetii, the causative agent of Q fever
RSBV - Overview: Rare Subepithelial Autoimmune Blistering Disease Variants, Serum
Aiding in the diagnosis of rare subepithelial autoimmune blistering diseases, including anti-laminin 332 pemphigoid, anti-p200 pemphigoid, epidermolysis bullosa acquisita, and systemic bullous lupus erythematosus
PLABN - Overview: Platelet Antibody Screen, Serum
Detecting alloantibodies to epitopes on platelet glycoproteins IIb/IIIa, Ib/Ix, Ia/IIa, IV and class I human leukocyte antigens to evaluate cases of immune mediated refractoriness to platelet transfusions, posttransfusion purpura, or...
DHTS - Overview: Dihydrotestosterone, Serum
Monitoring patients receiving 5-alpha reductase inhibitor therapy or chemotherapy Evaluating patients with possible 5-alpha reductase deficiency
CAVP - Overview: California Virus (La Crosse) IgG and IgM, Serum
Aiding the diagnosis of California (La Crosse) encephalitis using serum specimens
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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,...