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Test Catalog

DHCRZ - Overview: Smith Lemli Opitz Syndrome, DHCR7 Gene, Full Gene Analysis, Varies

Follow up for abnormal biochemical results suggestive of Smith-Lemli-Opitz syndrome Establishing a molecular diagnosis for patients with Smith-Lemli-Opitz syndrome Identifying alterations within DHCR7 allowing for predictive testing of...

COGBM - Overview: Chromosome Analysis, Hematologic Disorders, Children's Oncology Group Enrollment Testing, Bone Marrow

Evaluation of pediatric bone marrow specimens for chromosomal abnormalities associated with hematologic malignancies for diagnostic and prognostic purposes in patients being considered for enrollment in Children's Oncology Group clinical...

CHRAF - Overview: Chromosome Analysis, Amniotic Fluid

Prenatal diagnosis of chromosome abnormalities, including aneuploidy (ie, trisomy or monosomy) and balanced rearrangements

TYRSC - Overview: Tyrosinemia Follow-Up Panel, Self-Collect, Blood Spot

Monitoring of individuals with tyrosinemia type I (hepatorenal tyrosinemia) using a patient-collected specimen

ALB24 - Overview: Albumin, 24 Hour, Urine

Evaluating diabetic patients to assess the potential for early onset of nephropathy

GALK - Overview: Galactokinase, Blood

Diagnosis of galactokinase deficiency Evaluation of children with unexplained bilateral congenital or juvenile onset cataracts

CFTRN - Overview: Cystic Fibrosis Transmembrane Conductance Regulator, CFTR, Full Gene Analysis, Varies

Follow-up testing to identify variants in individuals with a clinical diagnosis of cystic fibrosis (CF) Identifying genetic variants in individuals with atypical presentations of CF (eg, congenital bilateral absence of the vas deferens or...

HBEL1 - Overview: Hemoglobin Electrophoresis Evaluation, Blood

Diagnosis and classification of hemoglobin disorders, including thalassemias and hemoglobin variants

GNTHR - Overview: Thrombosis Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies

Evaluating hereditary thrombosis in patients with a personal or family history suggestive of a hereditary thrombosis disorder Confirming a hereditary thrombosis disorder diagnosis with the identification of a known or suspected pathogenic...

CARNP - Overview: Carbapenemase Detection-Carba NP Test, Varies

Confirming carbapenemase production from pure isolates of Enterobacterales or Pseudomonas aeruginosa

FDERM - Overview: Fungal Culture, Dermal

Recovery and identification of dermatophyte fungi from hair, skin, and nail infected specimens

FIBTP - Overview: Fibrinogen, Plasma

Detecting increased or decreased fibrinogen (factor I) concentration of acquired or congenital origin Monitoring severity and treatment of disseminated intravascular coagulation and fibrinolysis

CLFIB - Overview: Fibrinogen, Clauss, Plasma

Detecting increased or decreased fibrinogen (factor 1) concentration of acquired or congenital origin Monitoring severity and treatment of disseminated intravascular coagulation and fibrinolysis

SIIRO - Overview: Sirolimus, Whole Blood

Monitoring whole blood sirolimus concentration during therapy, particularly in individuals coadministered cytochrome P450 (CYP) 3A4 substrates, inhibitors, or inducers Adjusting dose to optimize immunosuppression while minimizing...

THCU - Overview: Delta-8 and Delta-9-Carboxy-Tetrahydrocannabinol (THC) Confirmation, Random, Urine

Detection and confirmation of drug use of cannabis/marijuana and to specifically identify and quantify delta-8-carboxy tetrahydrocannabinol (THC-COOH) and delta-9-THC-COOH

NHEM - Overview: Hereditary Erythrocytosis Focused Gene Panel, Next-Generation Sequencing, Varies

Focused evaluation of an individual with JAK2-V617F negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, hemoglobin, or hematocrit Providing a focused genetic evaluation for patients with a...

CHLGP - Overview: Cholestasis Gene Panel, Varies

Establishing a molecular diagnosis for patients with monogenic cholestasis Identifying variants within genes known to be associated with primary, monogenic cholestasis, allowing for predictive testing of at-risk family members This panel...

Specialty Testing - Mayo Clinic Laboratories

Test Catalog AlgorithmsDownload Test Catalog & Interpretive HandbookNew TestsNY State Informed Consent TestsPerforming LocationsReferred TestsSpecialty TestingTest Updates...

2INHT - Overview: Factor II Inhibitor Profile, Technical Interpretation

Technical interpretation of inhibitor to factor II testing This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a nonspecific circulating anticoagulant, or other inhibitors that are not specific...

11INT - Overview: Factor XI Inhibitor Profile, Technical Interpretation

Technical interpretation of inhibitor to coagulation factor XI testing This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a nonspecific circulating anticoagulant, or other inhibitors that are...

HPCUT - Overview: Hematopathology Consultation, Client Embed

Obtaining a rapid, expert opinion for diagnosis of hematologic and nonhematologic diseases using bone marrow biopsy specimens referred by the primary pathologist Obtaining special studies that are not available locally

HPWET - Overview: Hematopathology Consultation, MCL Embed

Obtaining a rapid, expert opinion for diagnosis of hematologic and non-hematologic diseases using unprocessed bone marrow biopsy specimens referred by the primary pathologist Obtaining special studies that are not available locally

LYNCP - Overview: Lynch Syndrome Panel, Varies

Establishing a diagnosis of Lynch syndrome or constitutional mismatch repair deficiency allowing for targeted cancer surveillance based on associated risks Identifying MLH1, MSH2, MSH6, PMS2, or EPCAM variants to allow for predictive...

GA2P - Overview: Glutaric Aciduria Type II Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of glutaric acidemia type II Establishing a molecular diagnosis for patients with glutaric acidemia type II Identifying variants within genes known to be associated with glutaric...

ABOPC - Overview: Arbovirus Antibody Panel, IgG and IgM, Spinal Fluid

Aiding in the diagnosis of arboviral encephalitis (California [LaCrosse], St Louis, Eastern equine, and Western equine encephalitis)

MLHPB - Overview: MLH1 Hypermethylation Analysis, Blood

As an adjunct to positive hypermethylation in tumor to distinguish between somatic and germline hypermethylation As an adjunct to negative MLH1 germline testing in cases where colon or endometrial tumor demonstrates microsatellite...

MCRNA - Overview: Chlamydia trachomatis, Miscellaneous Sites, Nucleic Acid Amplification, Varies

Detecting Chlamydia trachomatis 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 Chlamydia pneumoniae or other...

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...

IL5P - Overview: Interleukin 5, Plasma

Evaluation of patients with disorders known to be associated with hypereosinophilia

PARID - Overview: Parasite Identification, Varies

Gross identification of parasites (eg, worms) and arthropods (eg, ticks, bed bugs, lice, mites) Detecting or eliminating the suspicion of parasitic infection by identifying suspect material passed in stool or found on the body Supporting...

CEE49 - Overview: CD49d Cell Expression Evaluation, Varies

Detecting cell-surface antigens on malignant cells that are potential therapeutic antibody targets, specifically CD49d Determining the eligibility of patients for monoclonal antibody therapies Monitoring response to the therapeutic...

CEE20 - Overview: CD20 Cell Expression Evaluation, Varies

Detecting cell-surface antigens on malignant cells that are potential therapeutic antibody targets, specifically CD20 Determining the eligibility of patients for monoclonal antibody therapies Monitoring response to the therapeutic...

GAPCR - Overview: Streptococcus Group A, Molecular Detection, PCR, Throat

Detecting group A streptococcal infections in patients with signs and symptoms of pharyngitis using a throat swab specimen The test is not intended for monitoring treatment for group A Streptococcus infections.

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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...