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Test Catalog
Detecting in utero drug exposure to marijuana (tetrahydrocannabinol) up to 5 months before birth
HPP - Overview: Pancreatic Polypeptide, Plasma
Detecting pancreatic endocrine tumors Assessing vagal nerve function after meal or sham feeding
COKEM - Overview: Cocaine and Metabolites Confirmation, Meconium
Detecting in utero drug exposure up to 5 months before birth
CLOBZ - Overview: Clobazam and Metabolite, Serum
Monitoring clobazam therapy
APTTP - Overview: Activated Partial Thromboplastin Time, Plasma
Monitoring heparin therapy (unfractionated heparin) Screening for certain coagulation factor deficiencies Detection of coagulation inhibitors such as lupus anticoagulant, specific factor inhibitors, and nonspecific inhibitors
MDS2 - Overview: Movement Disorder, Autoimmune/Paraneoplastic Evaluation, Serum
Evaluating patients with suspected paraneoplastic or other autoimmune movement disorders including patients with ataxia, brainstem encephalitis, chorea, dyskinesias, myoclonus, and parkinsonism using serum specimens
RBART - Overview: Bartter Syndrome Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Bartter syndrome Establishing a diagnosis of Bartter syndrome
ALPGP - Overview: Alport Syndrome Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Alport syndrome Establishing a diagnosis of Alport syndrome
CMACB - Overview: Chromosomal Microarray, Congenital, Blood
First-tier, postnatal testing for individuals with multiple anomalies that are not specific to well-delineated genetic syndromes, apparently nonsyndromic developmental delay or intellectual disability, or autism spectrum disorders as...
HIVQN - Overview: HIV-1 RNA Detection and Quantification, Plasma
Quantifying plasma HIV-1 RNA levels (viral load) in individuals living with HIV-1: -Before initiating antiretroviral therapy to obtain baseline viral load -Who may have developed HIV-1 drug resistance while on antiretroviral therapy -Who...
PKLRZ - Overview: PKLR Full Gene Analysis, Varies
Aiding in the diagnosis of pyruvate kinase (PK) deficiency Ascertaining a causative variant in the PKLR gene of patients with low or relatively low levels of erythrocytic PK enzymatic activity Ascertaining carrier status of family members...
PMARG - Overview: Postmortem Arrhythmia Gene Panel, Tissue
Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death suspicious for cardiac arrhythmia or with a personal or family history suggestive of a hereditary form of cardiac arrhythmia Identifying a...
PMHLH - Overview: Postmortem Primary Hemophagocytic Lymphohistiocytosis (HLH) Gene Panel, Tissue
Providing a comprehensive postmortem genetic evaluation in the setting of a death attributed to primary hemophagocytic lymphohistiocytosis Identifying a disease-causing variant in the decedent, which may assist with risk assessment and...
SMN1Z - Overview: SMN1 Gene, Full Gene Analysis, Varies
Confirming a diagnosis of spinal muscular atrophy due to nucleotide variants in SMN1 gene Second-tier carrier screening when there is a family history of spinal muscular atrophy, but an affected individual is not available for testing, or...
DHES1 - Overview: Dehydroepiandrosterone Sulfate, Serum
Diagnosis and differential diagnosis of hyperandrogenism (in conjunction with measurements of other sex steroids) An adjunct in the diagnosis of congenital adrenal hyperplasia Diagnosis and differential diagnosis of premature adrenarche
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...
FB12 - Overview: Vitamin B12 and Folate, Serum
Investigation of macrocytic anemia Workup of deficiencies seen in megaloblastic anemias Investigation of suspected folate deficiency
GAST - Overview: Gastrin, Serum
Investigation of patients with achlorhydria or pernicious anemia Investigation of patients suspected of having Zollinger-Ellison syndrome Diagnosis of gastrinoma
MCBPP - Overview: MayoComplete Bladder and Prostate Cancer Panel, Next-Generation Sequencing, Tumor
Primarily for determining if patients will respond to targeted therapy Assessment of microsatellite instability for immunotherapy decisions
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.
MCECP - Overview: MayoComplete Endometrial Carcinoma Panel, Next-Generation Sequencing, Tumor
Primarily for determining if patients will respond to targeted therapy Assessment of microsatellite instability for immunotherapy decisions Molecular-based classification of endometrial carcinoma
MCKCP - Overview: MayoComplete Kidney Cancer Panel, Next-Generation Sequencing, Tumor
Identifying specific mutations to assist in tumor diagnosis/classification Assisting in the clinical management of patients with renal cell carcinoma Assessment of microsatellite instability for immunotherapy decisions
HISGT - Overview: Histone Genes Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the H3-3A, H3-3B, H3C2, H3C3 and H3C14 genes that assist in tumor diagnosis/classification
DMITO - Overview: Mitochondrial DNA Deletion Heteroplasmy, ddPCR, Varies
Assessing the heteroplasmy level of previously detected large mitochondrial DNA (mtDNA) deletions. Screening family members for previously detected large mtDNA deletions. This test is not recommended for first tier diagnostic testing...
ADPKP - Overview: Focused Autosomal Dominant Polycystic Kidney Disease Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of autosomal dominant polycystic kidney disease Establishing a diagnosis of autosomal dominant polycystic kidney disease
HYPTG - Overview: Hypertriglyceridemia Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary forms of primary hypertriglyceridemia and related conditions.
CHBVS - Overview: Chronic Hepatitis B Screen, Serum
Diagnosis and evaluation of patients at risk for or suspected of having chronic hepatitis B This test is not offered as a screening or confirmatory test for blood donor specimens. This test is not useful during the "window period" of...
ESTF - Overview: Estrogens, Estrone (E1) and Estradiol (E2), Fractionated, Serum
Simultaneous high-sensitivity determination of serum estrone and estradiol levels Situations requiring either higher sensitivity estradiol measurement, estrone measurement, or both, including -As part of the diagnosis and workup of...
HYPBG - Overview: Hypobetalipoproteinemia Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of familial hypobetalipoproteinemia
SQTSG - Overview: Short QT Syndrome Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of short QT syndrome Establishing a diagnosis of short QT 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...
BAFS - Overview: Bile Acids, Fractionated and Total, Serum
Measuring tauro- and glycol-conjugated and unconjugated bile acid constituents in serum specimens Monitoring patients receiving bile acid therapy, such as cholic acid, deoxycholic acid, or ursodeoxycholic acid Aiding in the evaluation of...
BETA2 - Overview: Beta-2 Transferrin: Detection of Spinal Fluid in Other Body Fluid
Detection of spinal fluid in body fluids, such as ear or nasal fluid
APIXA - Overview: Apixaban, Anti-Xa, Plasma
Measuring apixaban concentration in selected clinical situations (eg, renal insufficiency, assessment of compliance, periprocedural measurement of drug concentration, suspected overdose, advanced age, and extremes of body weight)
AFP - Overview: Alpha-Fetoprotein (AFP) Tumor Marker, Serum
Follow-up management of patients undergoing cancer therapy, especially for testicular and ovarian tumors and for hepatocellular carcinoma Often used in conjunction with human chorionic gonadotropin.(2) This test is not recommended as a...
MANN - Overview: Alpha-Mannosidase, Leukocytes
Diagnosis of alpha-mannosidosis This test is not useful for establishing carrier status for alpha-mannosidosis.
ALBR - Overview: Albumin, Random, Urine
Assessing the potential for early onset of nephropathy in diabetic patients using random urine specimens
FUCW - Overview: Alpha-Fucosidase, Leukocytes
Detection of fucosidosis This test is not useful for establishing carrier status for fucosidosis.
Susceptibility testing of Mycobacterium tuberculosis complex isolates growing in pure culture.
ALDEF - Overview: Alpha Defensin, Lateral Flow Assay, Synovial Fluid
Detection of alpha defensins 1-3, human host response proteins, in synovial fluid of adults with a total joint replacement who are being evaluated for revision surgery This test is not intended to be used to determine timing for...
BAP - Overview: Bone Alkaline Phosphatase, Serum
Diagnosis and assessment of severity of metabolic bone disease including Paget disease, osteomalacia, and other states of high bone turnover Monitoring efficacy of antiresorptive therapies including postmenopausal osteoporosis treatment...
COBRU - Overview: Cobalt/Creatinine Ratio, Random, Urine
Detecting cobalt exposure in a random urine collection Monitoring metallic prosthetic implant wear This test is not useful for assessment of vitamin B12 activity.
IA2 - Overview: Islet Antigen 2 (IA-2) Antibody, Serum
Clinical distinction of type 1 from type 2 diabetes mellitus Identification of individuals at risk of type 1 diabetes (including high-risk relatives of patients with diabetes) Prediction of future need for insulin treatment in...
CIFS - Overview: Cutaneous Immunofluorescence Antibodies, IgG and IgG4, Serum
Confirming the presence of IgG and/or IgG4 antibodies to diagnose pemphigoid, pemphigus, epidermolysis bullosa acquisita, or bullous lupus erythematosus
F_2 - Overview: Coagulation Factor II Activity Assay, Plasma
Diagnosing a congenital deficiency (rare) of coagulation factor II Evaluating acquired deficiencies associated with liver disease or vitamin K deficiency, oral anticoagulant therapy, and antibody-induced deficiencies (eg, in association...
CYSQN - Overview: Cystinuria Profile, Quantitative, 24 Hour, Urine
Diagnosis of cystinuria using 24-hour urine collections
COXIS - Overview: Coccidioides Antibody Screen with Reflex, Serum
Detecting antibodies to Coccidioides immitis/posadasii This assay should not be used for monitoring response to therapy.
CARNU - Overview: Carnitine, Random, Urine
Evaluation of patients with a clinical suspicion of a wide range of conditions including organic acidemias and fatty acid oxidation disorders Monitoring carnitine treatment
COKEX - Overview: Cocaine and Metabolite Confirmation, Chain of Custody, Random, Urine
Detecting and confirming drug abuse involving cocaine 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...
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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,...