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Test Catalog
MSFNG - Overview: Fibronectin Glomerulopathy Confirmation, Mass Spectrometry
Aiding in the diagnosis of fibronectin glomerulopathy
THSIF - Overview: Thrombospondin Type 1 Domain Containing 7A (THSD7A), Immunofluorescence
Diagnosis of thrombospondin type 1 domain-containing 7A (THSD7A)-associated membranous nephropathy
AECDP - Overview: Angioedema and Complement Disorders Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited complement disorder, including complement deficiency Providing a comprehensive genetic evaluation for patients with a...
PHCGD - Overview: Phagocytic Disorders and Chronic Granulomatous Disease Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history of chronic granulomatous disease, Papillon-Lefevre syndrome, specific granule deficiency, leukocyte adhesion deficiency, or other phagocytic...
ADMI - Overview: ADAMTS13 Interpretation
Technical interpretation of testing performed to assist in the diagnosis of congenital, immune, or acquired thrombotic thrombocytopenic purpura
Determining iodine overload using serum specimens Monitoring iodine levels in individuals taking iodine-containing drugs
CATTR - Overview: Cold Agglutinin Titer, Serum
Detection of cold agglutinins in patients with suspected cold agglutinin disease This test is not recommended to diagnose Mycoplasma pneumoniae infections.
CZPS - Overview: Clonazepam and 7-Aminoclonazepam, Serum
Assessing patient compliance Monitoring for appropriate therapeutic level Assessing clonazepam toxicity
RAT10 - Overview: Citrate/Creatinine Ratio, Urine
Calculating the citrate concentration per creatinine Diagnosing risk factors for patients with calcium kidney stones Monitoring results of therapy in patients with calcium stones or renal tubular acidosis
HKC - Overview: Hexokinase Enzyme Activity, Blood
The evaluation of individuals with Coombs-negative chronic hemolysis
Evaluating patients with suspected autoimmune encephalitis and autoimmune epilepsy using spinal fluid specimens
HK1 - Overview: Hexokinase Enzyme Activity, Blood
The evaluation of individuals with Coombs-negative chronic hemolysis
DOXA1 - Overview: Oxalate Analysis, Hemodialysate
Determining the amount of oxalate removed during a dialysis session Individualizing the dialysis prescription of hyperoxaluric patients
RPHOC - Overview: Phosphorus, Random, Urine
Evaluation of hypo- or hyperphosphatemic states Evaluation of patients with nephrolithiasis
PERAM - Overview: Perampanel, Serum
Monitoring serum concentration of perampanel, in specific clinical conditions (ie, severe kidney impairment, mild to moderate hepatic impairment, and end-stage kidney disease) Assessing compliance Assessing potential toxicity
URCON - Overview: Urea, Random, Urine
Assessment of kidney failure (prerenal vs acute kidney injury)
SVISC - Overview: Viscosity, Serum
Detection of increased viscosity Monitoring patients with hyperviscosity syndrome This test is not useful for patients with small concentrations of monoclonal proteins.
ETGL - Overview: Ethylene Glycol, Serum
Confirming and monitoring ethylene glycol toxicity
OXYMU - Overview: Oxymorphone Confirmation, Random, Urine
Detection and quantification of oxymorphone and noroxymorphone in urine
PCPU - Overview: Phencyclidine Confirmation, Random, Urine
Detection of drug abuse involving phencyclidine (street names: angel dust, hog, or angel hair)
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...
EPC2 - Overview: Epilepsy, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid
Investigating new onset cryptogenic epilepsy with incomplete seizure control and duration of fewer than 2 years using spinal fluid specimens Investigating new onset cryptogenic epilepsy plus 1 or more of the following...
RABMP - Overview: Inherited Rhabdomyolysis and Metabolic Myopathy Panel, Varies
Establishing a molecular diagnosis for patients with rhabdomyolysis and metabolic myopathy Identifying variants within genes known to be associated with rhabdomyolysis and metabolic myopathy, allowing for predictive testing of at-risk...
CCMGG - Overview: Comprehensive Cardiomyopathy Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of cardiomyopathy Establishing a diagnosis of a hereditary form of cardiomyopathy
BRTP - Overview: Rapid Hereditary Breast Cancer Treatment Decision Panel, Varies
Establishing a diagnosis of a hereditary breast cancer syndrome allowing for surgical and management decision making Determining therapeutic eligibility with poly (adenosine diphosphate-ribose) polymerase inhibitors based on certain gene...
MCSRC - Overview: MayoComplete Comprehensive Sarcoma Panel, Next-Generation Sequencing, Tumor
Primarily for identifying mutations that help in the diagnosis of specific soft tissue and bone tumors (sarcoma) Secondarily for identifying mutations that have therapeutic or prognostic significance Assessing microsatellite instability...
Identifying individuals who are at increased risk of adverse drug reactions with drugs that are metabolized by uridine diphosphate glucuronosyltransferase (UGT1A1); especially irinotecan but also atazanavir, nilotinib, pazopanib, and...
TCP - Overview: T-Cell Subsets, Naive, Memory, and Activated, Blood
Determining the presence of naive, memory, and activated T cells in various clinical contexts including autoimmune diseases, immunodeficiency states, T-cell recovery post-hematopoietic stem cell transplant, DiGeorge syndrome, and as a...
Predicting potential for toxicity to thiopurine drugs (6-mercaptopurine, 6-thioguanine, and azathioprine)
CVHBG - Overview: Comprehensive Cerebrovascular Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of a monogenic condition in which there is an increased risk for a cerebrovascular accident Establishing a diagnosis of a monogenic condition in which...
KETGP - Overview: Ketone Disorders Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of a ketone disorder Establishing a molecular diagnosis for patients with ketone disorders Identifying variants within genes known to be associated with ketone disorders, allowing for...
IMSNP - Overview: Inherited Motor and Sensory Neuropathy Gene Panel, Varies
Establishing a molecular diagnosis for patients with hereditary motor and sensory neuropathy (HMSN) or Charcot-Marie-Tooth (CMT) disease Identifying variants within genes known to be associated with HMSN or CMT disease, allowing for...
AADAM - Overview: ADAMTS13 Profile Interpretation
Technical interpretation of a profile to assist with the diagnosis of congenital, immune, or acquired thrombotic thrombocytopenic purpura including inhibitor studies
COL7 - Overview: Anti-Collagen type VII, IgG Antibodies, Serum
Initial screening test in the diagnosis of epidermolysis bullosa acquisita and other immunobullous diseases mediated by collagen VII
RAMBO - Overview: Ammonium, Random, Urine
Diagnosis of the cause of acidosis using random urine specimens Diagnosis and treatment of kidney stones
RCTUR - Overview: Creatinine, Random, Urine
Calculation of creatinine clearance, a measure of renal function, when used in conjunction with serum creatinine Normalization of urinary analytes by creatinine concentration to account for the variation in urinary concentrations between...
CRTFR - Overview: Creatinine, Random, Urine
Normalizing urinary analytes to account for the variation in urinary concentrations between individuals when using random urine collections
BFCC - Overview: Cell Count and Differential, Body Fluid
Aiding in the diagnosis of joint disease, systemic disease, inflammation, malignancy, infection, and trauma
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
CYSR - Overview: Cystinuria Profile, Quantitative, Random, Urine
Biochemical diagnosis of cystinuria using random urine specimens
HYDCU - Overview: Hydrocodone with Metabolite Confirmation, Random, Urine
Detection and quantification of hydrocodone, norhydrocodone, and hydromorphone in urine
IGD - Overview: Immunoglobulin D (IgD), Serum
Providing information on the humoral immune status Identifying an IgD monoclonal gammopathy
HEXP - Overview: Iohexol, Plasma
Determining glomerular filtration rate in plasma specimens
HEXU - Overview: Iohexol, Timed Collection, Urine
Determining glomerular filtration rate in urine specimens
CLU - Overview: Chloride, 24 Hour, Urine
Indication of fluid balance and acid-base homeostasis using a 24-hour urine collection
CRT2F - Overview: Creatinine, 24 Hour, Urine
Normalizing urinary analytes to account for the variation in urinary concentration
CK - Overview: Creatine Kinase (CK), Serum
Diagnosing and monitoring myopathies or other trauma, toxin, or drug-induced muscle injury
CHLE - Overview: Cholesteryl Esters, Serum
Establishing a diagnosis of lecithin-cholesterol acyltransferase deficiency Evaluating the extent of metabolic disturbance by bile stasis or liver disease
HAPT - Overview: Haptoglobin, Serum
Confirmation of intravascular hemolysis
HICSF - Overview: Histoplasma Antibody Complement Fixation and Immunodiffusion, Spinal Fluid
Aiding in the diagnosis of Histoplasma meningitis using spinal fluid specimens
Site Search
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,...