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Test Catalog
Evaluation of patients with an abnormal newborn screen showing elevations of glutarylcarnitine (C5-DC) using dried blood spot specimens Evaluation of patients with abnormal newborn screens showing elevations of C4-acylcarnitine to aid in...
MCADZ - Overview: Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency Full Gene Analysis, Varies
Confirmation of diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (as a follow-up to biochemical analyses) Screening of at-risk carriers of MCAD deficiency when an affected relative has not had molecular testing Diagnosis...
NONCR - Overview: Neuro-Oncology Gene Panel, Rearrangements Only, Tumor
Identifying rearrangements that may support a diagnosis or help determine prognosis for patients with central nervous system tumors Identifying rearrangements within genes known to be associated with response or resistance to specific...
BRMLH - Overview: MLH1 Hypermethylation and BRAF Mutation Analysis, Tumor
An adjunct to MSI / Microsatellite Instability (MSI), Tumor and IHC / Mismatch Repair (MMR) Protein Immunohistochemistry Only, Tumor testing, when colon tumor demonstrates microsatellite instability (MSI-H) and loss of MLH1 protein...
PNBX - Overview: Peripheral Nerve Pathology Consultation
Evaluating diseases of the nerve and disorders that affect nerve function
EBVAB - Overview: Epstein-Barr Virus Antibody Profile, Serum
Diagnosis of Epstein-Barr virus (EBV) infectious mononucleosis or other EBV related infections Identification of prior EBV infection as part of pre-immunosuppression screening This assay is not intended for viral isolation or...
MAMLF - Overview: MAML2 (11q21) Rearrangement, Mucoepidermoid Carcinoma (MEC), FISH, Tissue
Supporting the diagnosis of mucoepidermoid carcinoma when used in conjunction with an anatomic pathology consultation
UBA1Q - Overview: UBA1 Mutation Quantitative Detection, VEXAS syndrome, Droplet Digital PCR, Varies
Identification of pathogenic variant(s) in the UBA1 gene in patients presenting with symptoms concerning for or consistent with VEXAS syndrome
SS18F - Overview: Synovial Sarcoma (SS), 18q11.2 (SS18 or SYT) Rearrangement, FISH, Tissue
Supporting the diagnosis of synovial sarcoma when used in conjunction with an anatomic pathology consultation
2HGA - Overview: 2-Hydroxyglutaric Acid Chiral Analysis, Quantitative, Random, Urine
Determining type of 2-hydroxyglutaric aciduria by chiral analysis of urine
XALDZ - Overview: X-Linked Adrenoleukodystrophy, Full Gene Analysis, Varies
Confirming a diagnosis of X-linked adrenoleukodystrophy Identifying a variant in the ABCD1 gene
2C9QT - Overview: Cytochrome P450 2C9 Genotype, Varies
Identifying individuals who may be at risk for altered metabolism of drugs that are modified by cytochrome P450 2C9
2C19R - Overview: Cytochrome P450 2C19 Genotype, Varies
Identifying patients who may be at risk for altered metabolism of drugs that are modified by cytochrome P450 2C19 Predicting anticoagulation response to clopidogrel
TERTD - Overview: TERT Promoter Mutation Analysis, Droplet Digital PCR, Tumor
Identifying specific mutations within the TERT promoter that assist in tumor diagnosis/classification
EPCRB - Overview: Ehrlichia/Anaplasma, Molecular Detection, PCR, Blood
Evaluating patients suspected of acute anaplasmosis or ehrlichiosis This test should not be used for screening asymptomatic individuals.
ANPAT - Overview: Anatomic Pathology Consultation, Wet Tissue
Obtaining a rapid, expert opinion on unprocessed specimens (lung tissue for immunofluorescence, cardiac biopsies, enucleated eye specimens, iris, conjunctiva, cornea, and other small eye biopsies) referred by a pathologist This test is not...
ACARP - Overview: Acanthamoeba species Molecular Detection, PCR, Ocular
Aids in the diagnosis of amebic keratitis in conjunction with clinical findings
CHRCV - Overview: Chromosome Analysis, Chorionic Villus Sampling
Prenatal diagnosis of chromosome abnormalities, including aneuploidy (ie, trisomy or monosomy) and balanced rearrangements This test is not appropriate as a first-tier test for detecting gains or losses of chromosomal material in...
NGAML - Overview: MayoComplete Acute Myeloid Leukemia, 11-Gene Panel, Varies
Evaluation of acute myeloid leukemia using a focused 11-gene panel at the time of diagnosis, or possibly at the time of relapsed/refractory disease, to help guide classification and possible therapeutic approaches
RPCWT - Overview: Renal Pathology Consultation, Wet Tissue
Evaluating and managing patients with kidney disease Following the progression of known kidney disease or response to therapy Determining the cause of dysfunction in the transplanted kidney (allograft)
CTP10 - Overview: Catecholamine Fractionation, Standing, Plasma, Free
Diagnosis of pheochromocytoma and paraganglioma in specimens collected from individuals in a standing position, as an auxiliary test to fractionated plasma and urine metanephrine measurements Diagnosis and follow-up of patients with...
LCMAL - Overview: Malaria, Molecular Detection, PCR, Varies
Detection of Plasmodium DNA and identification of the infecting species An adjunct to conventional microscopy of Giemsa-stained films, particularly in cases of low percent parasitemia or suboptimal parasite morphology Detection and...
RLTE4 - Overview: Leukotriene E4, Random, Urine
Aiding in the evaluation of patients at-risk for mast cell activation syndrome (eg, systemic mastocytosis, IgE-mediated allergies, or aspirin-exacerbated respiratory disease) using random urine collections
Evaluation of acute myeloid leukemia using a focused 4-gene panel at the time of diagnosis, or possibly relapsed or refractory disease, to help guide possible therapeutic approaches
UNIPD - Overview: Uniparental Disomy, Varies
Evaluation of patients presenting with mosaicism, confined placental mosaicism, or Robertsonian translocations Evaluation of patients presenting with features of disorders known to be associated with uniparental disomy (eg, Russell-Silver...
Monitoring acute (ie, short-term) drug use in addiction treatment or pain management settings as part of a rotational drug testing strategy Presumptive screening for amphetamine, methamphetamine, opioids/opiates (targeting morphine,...
HL57R - Overview: HLA-B*57:01 Genotype, Pharmacogenomics, Varies
Identifying individuals with an increased risk of hypersensitivity reactions to abacavir, based on the presence of the human leukocyte antigen HLA-B*57:01 allele Identifying individuals taking pazopanib who have an increased risk of...
GALMP - Overview: Galactosemia, GALT Gene, Variant Panel, Varies
Second-tier test for confirming a diagnosis of galactosemia as indicated by enzymatic testing or newborn screening Carrier testing family members of an affected individual of known genotype (has variants included in the panel) Resolution...
GAAZ - Overview: Pompe Disease, Full Gene Analysis, Varies
Confirmation of diagnosis of Pompe disease (as a follow-up to biochemical analyses)
SHBG1 - Overview: Sex Hormone-Binding Globulin, Serum
Diagnosis and follow-up of women with signs or symptoms of androgen excess (eg, polycystic ovarian syndrome and idiopathic hirsutism) An adjunct in monitoring sex-steroid and antiandrogen therapy An adjunct in the diagnosis of disorders...
CHRCB - Overview: Chromosome Analysis, Congenital Disorders, Blood
Diagnosis of congenital chromosome abnormalities, including aneuploidy, structural abnormalities, and balanced rearrangements
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...
BHDZ - Overview: Birt-Hogg-Dube Syndrome, FLCN, Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of Birt-Hogg-Dube (BHD) syndrome Establishing a diagnosis of BHD syndrome allowing for targeted cancer surveillance based on associated risks Identifying variants within...
INTAD - Overview: Adalimumab Panel, Interpretation
Interpretation of therapeutic drug monitoring of adalimumab concentration and antibody levels
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...
HVPRS - Overview: HIV Antigen and Antibody Prenatal Routine Screen, Serum
Screening for HIV-1 and HIV-2 infection in nonsymptomatic pregnant patients This test should not be used as a screening or confirmatory test for blood donor specimens.
WILMP - Overview: Hereditary Wilms Tumor Panel, Varies
Evaluating isolated and syndromic causes of Wilms tumor Establishing a diagnosis to guide management for individuals with Wilms tumor Identifying a familial variant allowing for predictive testing and appropriate screening of at-risk...
HIVSS - Overview: HIV-1 and HIV-2 Antigen and Antibody Routine Screen, Serum
Screening for HIV-1 and HIV-2 infection in nonsymptomatic, nonpregnant individuals older than 2 years This test should not be used as a screening or confirmatory test for blood donor specimens.
CTSU - Overview: Ceramide Trihexosides and Sulfatides, Random, Urine
Identifying patients with Fabry disease Identifying patients with metachromatic leukodystrophy Identifying patients with saposin B deficiency Identifying patients with multiple sulfatase deficiency Identifying patients with...
CHRAF - Overview: Chromosome Analysis, Amniotic Fluid
Prenatal diagnosis of chromosome abnormalities, including aneuploidy (ie, trisomy or monosomy) and balanced rearrangements
CMAP - Overview: Chromosomal Microarray, Prenatal, Amniotic Fluid/Chorionic Villus Sampling
Prenatal diagnosis of copy number changes (gains or losses) across the entire genome Determining the size, precise breakpoints, gene content, and any unappreciated complexity of abnormalities detected by other methods, such as conventional...
HIVSP - Overview: HIV Antigen and Antibody Prenatal Routine Screen, Plasma
Screening for HIV-1 and HIV-2 infection in nonsymptomatic pregnant patients This test should not be used as a screening or confirmatory test for blood donor specimens.
NAGW - Overview: Hexosaminidase A and Total Hexosaminidase, Leukocytes
Carrier detection and diagnosis of Tay-Sachs disease Carrier detection and diagnosis of Sandhoff disease
NMS1 - Overview: Necrotizing Myopathy Evaluation, Serum
Evaluating patients with suspected necrotizing autoimmune myopathy
NONCM - Overview: Neuro-Oncology Gene Panel, Mutations Only, Tumor
Identifying mutations that may support a diagnosis or help determine prognosis for patients with central nervous system tumors Identifying specific mutations within genes known to be associated with response or resistance to specific...
PTNZ - Overview: PTEN Hamartoma Tumor Syndrome, PTEN Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of PTEN hamartoma tumor syndrome (PHTS) Establishing a diagnosis of PHTS allowing for targeted cancer surveillance based on associated risks Identifying variants within...
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...
QFT4 - Overview: QuantiFERON-TB Gold Plus, Blood
Indirect test for Mycobacterium tuberculosis infection, to be used in conjunction with risk assessment, radiography, and other medical and diagnostic evaluations This test is not recommended for use for diagnosis of active tuberculosis...
NGSFX - Overview: Reanalysis of Acute Myeloid Leukemia 4- or 11- Gene Panels, Additional Genes
Comprehensive reanalysis of a larger set of genes/gene regions when a more targeted gene panel was previously performed in this laboratory Evaluation of known or suspected hematologic neoplasms, specifically of myeloid origin (eg, acute...
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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,...