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Test Catalog
CASRG - Overview: CASR Full Gene Sequencing with Deletion/Duplication, Varies
Providing a genetic evaluation of individuals with a personal or family history of familial hypocalciuric hypercalcemia, neonatal severe primary hyperparathyroidism, or autosomal dominant hypoparathyroidism (autosomal dominant...
FHEP2 - Overview: Heparin Cofactor II
Assessment of thrombotic risk associated with heparin cofactor II levels.
CAURS - Overview: Candida auris Surveillance, Molecular Detection, PCR, Varies
Detecting Candida auris from surveillance swabs This test should not be used to determine cure or to monitor response to therapy.
CRDPP - Overview: Creatine Disorders Panel, Plasma
Evaluating patients with a clinical suspicion of arginine:glycine amidinotransferase deficiency, guanidinoacetate methyltransferase deficiency, and creatine transporter deficiency using plasma specimens
ARSAW - Overview: Arylsulfatase A, Leukocytes
Preferred enzymatic test for detection of arylsulfatase A deficiency This test is not suitable for carrier detection.
LLTOF - Overview: Leukemia and Lymphoma Phenotyping, Technical Only, Varies
Evaluating lymphocytoses of undetermined etiology Identifying B- and T-cell lymphoproliferative disorders involving blood and bone marrow Distinguishing acute lymphoblastic leukemia from acute myeloid leukemia (AML) Immunologic...
PNEFC - Overview: Neuroimmunology Antibody Follow-up, Spinal Fluid
Monitoring patients who have previously tested positive for 1 or more antibodies within the past 5 years in a Mayo Clinic Neuroimmunology Laboratory spinal fluid evaluation
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...
GNF13 - Overview: Factor XIII Deficiency, F13A1 and F13B Genes, Next-Generation Sequencing, Varies
Evaluating factor XIII deficiency (FXIIID) in patients with a personal or family history suggestive of FXIIID Confirming an FXIIID diagnosis with the identification of known or suspected disease-causing alterations in the F13A1 or F13B...
MSUDP - Overview: Maple Syrup Urine Disease Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of maple syrup urine disease (MSUD) Establishing a molecular diagnosis for patients with MSUD Identifying variants within genes known to be associated with MSUD, allowing for...
Detection of high-risk (HR) genotypes associated with the development of cervical cancer An aid in triaging women with abnormal Pap smear test results Individual genotyping of human papillomavirus (HPV)-16 and/or HPV-18, if present...
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)
JCV - Overview: JC Virus Detection by In Situ Hybridization
Confirming a clinical and histopathologic diagnosis of progressive multifocal leukoencephalopathy
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...
HLLFH - Overview: Hematologic Disorders, Leukemia/Lymphoma; Flow Hold, Varies
Evaluating lymphocytoses of undetermined etiology Identifying B- and T-cell lymphoproliferative disorders involving blood and bone marrow Distinguishing acute lymphoblastic leukemia from acute myeloid leukemia (AML) Immunologic...
Detecting Chlamydia trachomatis and Neisseria gonorrhoeae using rectal swabs collected by the patient in a healthcare setting This test is not intended for use in medico-legal applications. This test is not useful for the detection of...
Detecting Chlamydia trachomatis and Neisseria gonorrhoeae using a throat swab collected by the patient in a healthcare setting This test is not intended for use in medico-legal applications. This test is not useful for the detection of...
Detecting Chlamydia trachomatis and Neisseria gonorrhoeae using self-collected vaginal swabs collected by the patient in a healthcare setting This test is not intended for use in medico-legal applications. This test is not useful for the...
NPM1Q - Overview: Nucleophosmin (NPM1) Mutation Analysis, Varies
As a prognostic indicator in patients with newly diagnosed acute myelogenous leukemia with normal karyotype and no FLT3 variant and as a leukemia-specific marker of minimal residual disease
OPATX - Overview: Opiates Confirmation, Chain of Custody, Random, Urine
Detection and quantification of codeine, hydrocodone, oxycodone, morphine, hydromorphone, oxymorphone, noroxycodone, noroxymorphone, norhydrocodone, dihydrocodeine, and naloxone in urine Chain of custody is required whenever the results of...
PEE - Overview: Porphyrins Evaluation, Whole Blood
Establishing a biochemical diagnosis of erythropoietic protoporphyria and X-linked dominant protoporphyria
GDF15 - Overview: Growth Differentiation Factor 15, Plasma
A circulating biomarker in myopathy-related mitochondrial disease as well as other conditions Investigation of patients suspected of having a mitochondrial myopathy This assay is not suitable for carrier detection.
A_CR - Overview: Albumin/Creatinine Ratio
Calculating the albumin concentration per creatinine Assessing the potential for early onset of nephropathy in diabetic patients using random urine specimens
BARBX - Overview: Barbiturates Confirmation, Chain of Custody, Random, Urine
Detecting drug abuse involving barbiturates such as amobarbital, butalbital, pentobarbital, phenobarbital, and secobarbital Chain of custody is required whenever the results of testing could be used in a court of law. Its purpose is to...
PLFAT - Overview: Cryptococcus Antigen Titer, Lateral Flow Assay, Pleural Fluid
Diagnosis of infection with Cryptococcus species
ULFAT - Overview: Cryptococcus Antigen Titer, Lateral Flow Assay, Urine
Aiding in the diagnosis of infection with Cryptococcus neoformans or Cryptococcus gattii This test should not be used as a test of cure.
HBOCZ - Overview: BRCA1/BRCA2 Genes, Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of hereditary breast and ovarian cancer (HBOC) syndrome Establishing a diagnosis of HBOC syndrome allowing for targeted cancer surveillance based on associated risks...
MPS2Z - Overview: Hunter Syndrome, Full Gene Analysis, Varies
Confirmation of a diagnosis of mucopolysaccharidosis type II (Hunter syndrome) Carrier testing when there is a family history of mucopolysaccharidosis type II (Hunter syndrome), but disease-causing variants have not been previously...
GAL1P - Overview: Galactose-1-Phosphate, Erythrocytes
Monitoring dietary therapy of patients with galactosemia due to deficiency of galactose-1-phosphate uridyltransferase or uridine diphosphate galactose-4-epimerase
Detecting Chlamydia trachomatis and Neisseria gonorrhoeae in non-US Food and Drug Administration-approved specimen types This test is not intended for use in medico-legal applications. This test is not useful for the detection of...
Risk stratification of patients with treated multiple myeloma, which can assist in determining treatment and management decisions Risk stratification of patients with newly diagnosed multiple myeloma
BCELL - Overview: B-Cell and Antibody Deficiency Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited primary B-cell disorder or humoral immunodeficiency Establishing a diagnosis of a primary B-cell disorder or humoral...
BIWB - Overview: Bismuth, Blood
Determining bismuth toxicity
METR1 - Overview: Cytochrome b5 Reductase Enzyme Activity, Blood
Evaluation of patients with cyanosis Confirming cases of suspected cytochrome b5 reductase (methemoglobin reductase) deficiency Functional studies in families with cytochrome b5 reductase deficiency
PTFIB - Overview: PT-Fibrinogen, Plasma
Detecting increased or decreased fibrinogen (factor 1) concentration of acquired or congenital origin Differentiating hypofibrinogenemia from dysfibrinogenemia
PINW - Overview: Pinworm Exam, Perianal
Detection of the eggs of Enterobius vermicularis on the skin of the perianal folds
FIBAG - Overview: Fibrinogen Antigen, Plasma
Evaluation of fibrinogen deficiency Measuring fibrinogen in patients with elevated plasma levels of fibrin degradation products, patients receiving heparin, and in patients with antibodies to thrombin (following surgical use of topical...
URCU - Overview: Uric Acid, 24 Hour, Urine
Assessment and management of patients with kidney stones, particularly uric acid stones
AATHI - Overview: Thrombophilia Profile Interpretation
Interpretation of testing performed as part of a profile to evaluate patients with thrombosis or hypercoagulability states including detecting a lupus-like anticoagulant; dysfibrinogenemia; disseminated intravascular...
TAKRO - Overview: Tacrolimus, Blood
Monitoring whole blood tacrolimus concentration during therapy, particularly in individuals coadministered cytochrome P450 (CYP) 3A4 substrates, inhibitors, or inducers Adjusting dose to optimize immunosuppression while minimizing...
HIESG - Overview: Hyper-IgE Syndrome Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of hyper-IgE syndrome (HIES) Establishing a diagnosis of HIES, allowing for appropriate management and surveillance for disease features...
RALB1 - Overview: Albumin, Random, Urine
Assessing the potential for early onset of nephropathy in diabetic patients using random urine specimens
ALBR - Overview: Albumin, Random, Urine
Assessing the potential for early onset of nephropathy in diabetic patients using random urine specimens
T790M - Overview: Cell-Free DNA EGFR T790M Mutation Analysis, Blood
Determination of EGFR T790M mutation status in blood specimens as an alternative to invasive tissue biopsies Identification of patients with non-small cell lung cancer who harbor a T790M mutation and may benefit from specific EGFR-targeted...
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...
PCPX - Overview: Phencyclidine Confirmation, Chain of Custody, Random, Urine
Detection of drug abuse involving phencyclidine (street names: angel dust, hog, or angel hair) in urine specimens handled through the chain-of-custody process Chain of custody is required whenever the results of testing could be used in a...
PEWE - Overview: Porphyrins Evaluation, Washed Erythrocytes
Preferred test for analysis of erythrocyte porphyrins Establishing a biochemical diagnosis of erythropoietic protoporphyria, and X-linked dominant protoporphyria
CD4RT - Overview: CD4 T-Cell Recent Thymic Emigrants, Blood
Evaluating thymic reconstitution in patients following hematopoietic cell transplantation, chemotherapy, immunomodulatory therapy, and immunosuppression Evaluating thymic recovery in patients who are HIV-positive and on highly active...
GALZ - Overview: Galactosemia, GALT Gene, Full Gene Analysis, Varies
Identifying variants in individuals who test negative for the common variants and who have a biochemical diagnosis of galactosemia or galactose-1-phosphate uridyltransferase activity levels indicative of carrier status
FMARI - Overview: Cannabinoid Analysis, Whole Blood
Cannabinoid Analysis, Whole Blood
Site Search
sequential-maternal-serum-screening-testing-algorithm.pdf
All rights reserved. Sequential Maternal Serum Screening Testing Algorithm Diagnostic testing should be offered Screen-positive: results reported Screen-negative: results reported No f......
newborn-screen-follow-up-elevated-c5-oh.pdf
Foundation for Medical Education and Research (MFMER). All rights reserved. Newborn Screen Follow-up for Elevated C5-OH Newborn screen result: Elevated 3-hydroxyisovaleryl- /2-methyl-3-hydroxybutyryl-carnitine...
newborn-screen-follow-up-elevated-c4-oh-acylcarnitine.pdf
rights reserved. 09/2023 Newborn screen result: Elevated C4-OH acylcarnitine Perform: Plasma ammonia, blood gas, glucose, electrolytes Order: ■ OAU / Organic Acids Screen, Random, Urine ■ ......
newborn-screen-elevated-c0-c16-c18.pdf
Mayo Foundation for Medical Education and Research (MFMER). All rights reserved. 08/20/23 Newborn screen results: ■ Elevated or normal free carnitine (C0) ■ Elevated C0/C16+C18 ratio Perform: Plasma ammonia...
newborn-screen-decreased-free-carnitineco.pdf
Mayo Foundation for Medical Education and Research (MFMER). All rights reserved. 07/2025 Newborn screen result: ■ Decreased free carnitine (C0) Perform: Plasma ammonia, blood gas, glucose, electrolytes...