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Test Catalog
SCIDP - Overview: Severe Combined Immunodeficiency (SCID) Gene Panel, Varies
Establishing a diagnosis of a severe combined immunodeficiency (SCID) associated with known causal genes Identifying variants within genes known to be associated with SCID, allowing for predictive testing of at-risk family members and/or...
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...
Detecting Chlamydia trachomatis and/or Neisseria gonorrhoeae This test is not intended for use in medico-legal applications. This test is not useful for the detection of other Chlamydia species.
CYSGP - Overview: Cystinuria Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of cystinuria Establishing a molecular diagnosis for patients with cystinuria Identifying variants within genes known to be associated with cystinuria, allowing for predictive testing...
2OHGP - Overview: 2-Hydroxyglutaric Aciduria Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of 2-hydroxyglutaric aciduria Establishing a molecular diagnosis for patients with 2-hydroxyglutaric aciduria Identifying variants within genes known to be associated with...
MSH6 - Overview: MSH6 Immunostain, Technical Component Only
Identifying patients at high risk for having hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome, in an immunopanel including MSH6 and other mismatch repair markers Evaluation of tumor tissue to identify patients at...
MSH2 - Overview: MSH2 Immunostain, Technical Component Only
Identifying patients at high risk for having hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome, in an immunopanel including MSH2 and other mismatch repair markers Evaluation of tumor tissue to identify patients at...
NHEP - Overview: Hereditary Erythrocytosis Gene Panel, Next-Generation Sequencing, Varies
Evaluating an individual with JAK2-V617F negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit Providing an extensive genetic evaluation for patients...
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...
PMS2 - Overview: PMS2 Immunostain, Technical Component Only
Identifying patients at high risk for having hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome, in an immunopanel including PMS2 and other mismatch repair markers Evaluation of tumor tissue to identify patients at...
MLH1 - Overview: MLH1 Immunostain, Technical Component Only
Evaluation of tumor tissue to identify patients at high risk for having hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome Evaluation of tumor tissue to identify patients at risk for having hereditary endometrial...
GNBLC - Overview: Bleeding Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies
Evaluating hereditary bleeding in patients with a personal or family history suggestive of a hereditary bleeding disorder Confirming a hereditary bleeding disorder diagnosis with the identification of a known or suspected disease-causing...
ASB - Overview: Arsenic, Blood
Detecting acute or very recent arsenic exposure Monitoring the effectiveness of therapy This test is not useful for evaluation of chronic arsenic exposure.
HBELI - Overview: Hemoglobin Electrophoresis Interpretation
Interpretation for the results of hemoglobin electrophoresis Diagnosis and classification of hemoglobin disorders, including thalassemias and hemoglobin variants
OXYCX - Overview: Oxycodone with Metabolite Confirmation, Chain of Custody, Random, Urine
Detection and quantification of oxycodone, oxymorphone, noroxycodone, and noroxymorphone in urine 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...
CYPAN - Overview: Cytokine Panel, Plasma
Understanding the etiology of infectious or chronic inflammatory diseases, when used in conjunction with clinical information and other laboratory testing Research studies in which an assessment of cytokine responses is needed
OPE - Overview: Ova and Parasite, Travel History or Immunocompromised, Feces
Detecting and identifying parasitic protozoa and eggs and larvae of parasitic helminths in stool specimens
CEE52 - Overview: CD52 Cell Expression Evaluation, Varies
Detecting cell-surface antigens on malignant cells that are potential therapeutic antibody targets, specifically CD52 Determining the eligibility of patients for monoclonal antibody therapies Monitoring response to the therapeutic...
FLT - Overview: FLT3 Mutation Analysis, Varies
Prognostic indication for some patients with acute myeloid leukemia This test should not be used to monitor residual disease following treatment.
MTBT - Overview: Mycobacterium tuberculosis Complex, Molecular Detection, PCR, Paraffin, Tissue
Preferred method for rapid detection of Mycobacterium tuberculosis complex DNA in formalin-fixed, paraffin-embedded tissue specimens Detecting M tuberculosis complex This test is not intended for the detection of latent tuberculosis and...
MECPI - Overview: Methicillin Resistance Gene, Molecular Detection, PCR, Varies
Detecting mecA in staphylococcal bacterial isolates Evaluating treatment options when oxacillin or cefoxitin breakpoints are unavailable (eg, certain Staphylococcus species other than Staphylococcus aureus) Predicting antimicrobial...
Rapid detection of Mycobacterium tuberculosis DNA from respiratory specimens for the diagnosis of pulmonary tuberculosis Presumptive detection of rifampin resistance based on the presence of resistance-associated mutations
Measuring the delta-9 carboxy-tetrahydrocannabinol to creatinine ratio to detect use of tetrahydrocannabinol
RURC1 - Overview: Uric Acid/Creatinine Ratio, Random, Urine
Differentiation of acute uric acid nephropathy from other causes of acute kidney failure For patients who cannot collect a 24-hour specimen, typically small children, a uric acid to creatinine ratio can be used to approximate 24-hour...
ARVGG - Overview: Arrhythmogenic Cardiomyopathy Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of arrhythmogenic cardiomyopathy Establishing a diagnosis of a hereditary form of arrhythmogenic cardiomyopathy
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...
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...
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...
Aiding in the diagnosis of new cases of multiple myeloma or other plasma cell proliferative disorders using bone marrow specimens Identifying prognostic markers based on the abnormalities found This test should not be used to track the...
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
HCMGG - Overview: Hypertrophic Cardiomyopathy Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of hypertrophic cardiomyopathy Establishing a diagnosis of a hereditary form of hypertrophic cardiomyopathy
CLADP - Overview: Congenital Lactic Acidosis Panel, Varies
Follow up for abnormal biochemical results suggestive of congenital lactic acidosis Establishing a molecular diagnosis for patients with congenital lactic acidosis Identifying variants within genes known to be associated with congenital...
ETGX - Overview: Ethyl Glucuronide Confirmation, Chain of Custody, Random, Urine
Monitoring abstinence in clinical and justice system settings using ethyl glucuronide and ethyl sulfate as direct biomarkers or metabolites of ethanol This chain-of-custody test is intended to be used in a setting where the test results...
HEXAZ - Overview: Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies
Second-tier test for confirming a biochemical diagnosis of Tay-Sachs disease (TSD) Carrier testing of individuals with a family history of TSD but an affected individual is not available for testing or disease-causing mutations have not...
PBKQN - Overview: BK Virus DNA Detection and Quantification, Plasma
Detection and serial monitoring of BK virus-associated nephropathy in kidney transplant recipients using plasma specimens Detection and serial monitoring of BK virus-associated hemorrhagic cystitis in organ transplant recipients
Identification of individuals who may be at risk for aminoglycoside-induced hearing loss (AIHL) Establishing a diagnosis of late-onset sensorineural hearing loss associated with aminoglycoside exposure Identifying mitochondrial variants...
CDPCR - Overview: Clostridioides difficile Toxin, PCR, Feces
Sensitive, specific, and rapid diagnosis of Clostridioides (Clostridium) difficile-associated diarrhea and pseudomembranous colitis The test is not recommended as a test of cure.
DDITT - Overview: D-Dimer, Plasma
Excluding the diagnosis of acute pulmonary embolism or deep vein thrombosis, particularly when results of a sensitive D-dimer assay are combined with clinical information, including pretest disease probability(1-4) Diagnosis of...
MSCSF - Overview: Bacteria, Virus, Fungus, and Parasite Metagenomic Sequencing, Spinal Fluid
Detecting and identifying pathogenic organisms including bacteria, fungi, DNA viruses, RNA viruses, and parasites in cerebrospinal fluid This test is not recommended as a test of cure because nucleic acids may persist after successful...
BRBST - Overview: Tickborne Bacterial, PCR and Sequencing, Blood
Detecting and identifying pathogenic tickborne bacteria infecting normally sterile whole blood Potential detection of bacteria that cause similar illnesses to tickborne infections This test should not be used as first tier test. It should...
CTRNA - Overview: Chlamydia trachomatis, Nucleic Acid Amplification, Varies
Detecting Chlamydia trachomatis This test is not intended for use in medico-legal applications. This test is not useful for the detection of other Chlamydia species.
PMCMG - Overview: Postmortem Cardiomyopathy Gene Panel, Tissue
Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death attributed to cardiomyopathy or with a personal or family history suggestive of a hereditary form of cardiomyopathy Identifying a disease-causing...
PMCAG - Overview: Postmortem Cardiomyopathy and Arrhythmia Gene Panel, Tissue
Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death attributed to cardiomyopathy or suspicious for cardiac arrhythmia or with a personal or family history suggestive of a hereditary form of...
TYRGP - Overview: Tyrosine Disorders Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of a tyrosine disorder Establishing a molecular diagnosis for patients with tyrosine disorders Identifying variants within genes known to be associated with tyrosine disorders,...
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of dilated cardiomyopathy or left ventricular noncompaction Establishing a diagnosis of a hereditary form dilated cardiomyopathy...
LQTSG - Overview: Long QT Syndrome Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of long QT syndrome (LQTS) Establishing a diagnosis of LQTS
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...
DMDZ - Overview: DMD Gene, Full Gene Analysis, Varies
Establishing a molecular diagnosis for patients with Duchenne muscular dystrophy and Becker muscular dystrophy Identifying variants within DMD known to be associated with Duchenne muscular dystrophy or Becker muscular dystrophy, allowing...
SCCTR - Overview: Chlamydia trachomatis, Self-Collect, Nucleic Acid Amplification, Rectal
Detecting Chlamydia trachomatis 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 other Chlamydia species.
SCCTT - Overview: Chlamydia trachomatis, Self-Collect, Nucleic Acid Amplification, Throat
Detecting Chlamydia trachomatis using throat 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 other Chlamydia species.
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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...