IGFB3 - Overview: Insulin-Like Growth Factor-Binding Protein 3, Serum
Diagnosing growth disorders Diagnosing adult growth hormone deficiency Monitoring of recombinant human growth hormone treatment As a possible adjunct to insulin-like growth factor 1 and growth hormone in the diagnosis and follow-up of...
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...
QFT4 - Overview: QuantiFERON-TB Gold Plus, Blood
Indirect test for Mycobacterium tuberculosis infection, to be used in conjunction with risk assessment, radiography, and other medical and diagnostic evaluations This test is not recommended for use for diagnosis of active tuberculosis...
PQNU - Overview: Porphyrins, Quantitative, 24 Hour, Urine
Preferred screening test for congenital erythropoietic porphyria and porphyria cutanea tarda and during symptomatic periods for acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria when specimen transport will be...
Detecting high-risk (HR) genotypes associated with the development of cervical cancer Aiding in triaging women with abnormal Pap smear test results Individual genotyping of human papillomavirus (HPV)-16 and/or HPV-18 if present...
PGXQP - Overview: Focused Pharmacogenomics Panel, Varies
Preemptive or reactive genotyping of patients for pharmacogenomic purposes Providing an assessment for genes with strong drug-gene associations
KRABZ - Overview: Krabbe Disease, Full Gene Analysis and Large (30 kb) Deletion, Varies
Second-tier test for confirming a diagnosis of Krabbe disease Carrier testing for individuals with a family history of Krabbe disease in the absence of known sequence variants in the family
AGABS - Overview: Alpha-Galactosidase, Blood Spot
Diagnosis of Fabry disease in male patients using blood spot specimens Verifying abnormal serum alpha-galactosidase results in male patients with a clinical presentation suggestive of Fabry disease Follow-up to an abnormal newborn screen...
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
CFRCS - Overview: Bacterial Culture, Cystic Fibrosis with Antimicrobial Susceptibilities, Varies
Detecting disease-causing aerobic bacteria in specimens from patients with cystic fibrosis Determining the in vitro antimicrobial susceptibility of potentially pathogenic aerobic bacteria, if appropriate
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
OLIGU - Overview: Oligosaccharide Screen, Random, Urine
Screening for selected oligosaccharidosis
NF1Z - Overview: Neurofibromatosis Type 1, NF1, Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of neurofibromatosis type 1 (NF1) Establishing a diagnosis of a NF1 allowing for targeted cancer surveillance based on associated risks Identifying genetic variants...
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...
CORTO - Overview: Cortisol, Free and Total, Serum
Assessment of cortisol status in cases where there is known or a suspected abnormality in cortisol-binding proteins or albumin Assessment of adrenal function in the critically ill or stressed patient, thus preventing unnecessary use of...
DPYDQ - Overview: Dihydropyrimidine Dehydrogenase Genotype, Varies
Identifying individuals with genetic variants in DPYD who are at increased risk of toxicity when prescribed 5-fluorouracil (5-FU) or capecitabine chemotherapy treatment
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
LYMPV - Overview: Lyme Disease, Molecular Detection, PCR, Varies
Supporting the diagnosis of Lyme disease in conjunction with serologic testing Specific indications including testing skin biopsies when a rash lesion is not characteristic of erythema migrans and testing synovial fluid or synovium to...
G6PDC - Overview: Glucose 6 Phosphate Dehydrogenase Enzyme Activity, Blood
Evaluation of individuals with episodic or chronic Coombs-negative nonspherocytic hemolytic anemia Rapid testing to assess glucose-6-phosphate dehydrogenase (G6PD) enzyme capacity prior to rasburicase or other therapies that may cause...
NENZ - Overview: Red Blood Cell Enzyme Disorders Gene Panel, Next-Generation Sequencing, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an underlying red blood cell enzymopathy Identifying variants within genes associated with phenotypic severity, allowing for...
PAVAL - Overview: Paraneoplastic, Autoantibody Evaluation, Serum
Serological evaluation of patients who present with a subacute neurological disorder of undetermined etiology, especially those with known risk factors for cancer Directing a focused search for cancer Investigating neurological symptoms...
TALMF - Overview: T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Specified FISH, Varies
Detecting recurrent common chromosome abnormalities associated with T-cell acute lymphoblastic leukemia/lymphoma (T-ALL) using client-specified probes An adjunct to conventional chromosome studies in patients with T-ALL Evaluating...
GNMTC - Overview: Macro/Microthrombocytopenia Gene Panel, Next-Generation Sequencing, Varies
Evaluating hereditary macro- or microthrombocytopenia disorders in patients with a personal or family history suggestive of a hereditary macro- or microthrombocytopenia disorder Diagnosing hereditary macro- or microthrombocytopenia...
TALAF - Overview: T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), FISH, Adult, Varies
Detecting, at diagnosis, recurrent common chromosome abnormalities associated with T-cell acute lymphoblastic leukemia/lymphoma (T-ALL) in adult patients As an adjunct to conventional chromosome studies in patients with T-ALL Evaluating...
GNSPD - Overview: Platelet Storage Pool Deficiency Gene Panel, Next-Generation Sequencing, Varies
Evaluating hereditary platelet storage pool deficiencies in patients with a personal or family history suggestive of a hereditary platelet storage pool deficiency Diagnosing hereditary platelet storage pool deficiencies for patients in...
PBGD_ - Overview: Porphobilinogen Deaminase, Whole Blood
Confirmation of a diagnosis of acute intermittent porphyria
PC2TS - Overview: Purkinje Cell Cytoplasmic Antibody Type 2 (PCA-2) Titer, Serum
Evaluating patients who present with a subacute neurological disorder of undetermined etiology and have risk factors for lung cancer Reporting an end titer result from serum specimens
PKU - Overview: Phenylalanine and Tyrosine, Plasma
Monitoring effectiveness of dietary therapy in patients with hyperphenylalaninemia
MTRNA - Overview: Trichomonas vaginalis, Nucleic Acid Amplification, Varies
Detecting Trichomonas vaginalis in prostatic massage (VBIII) fluid or male urethral swabs
VWFMP - Overview: von Willebrand Factor Multimer Analysis, Plasma
As a reflex component of several coagulation consultation unit codes, when indicated When results of complementary laboratory tests are abnormally low or discordant (eg, F8A / Coagulation Factor VIII Activity Assay, Plasma; VWACT / von...
VIBC - Overview: Vibrio Culture, Feces
Determining whether Vibrio species may be the cause of diarrhea This test is generally not useful for patients that have been hospitalized for more than 3 days because the yield from these patients' specimens is very low, as is the...
CIMRP - Overview: Coccidioides immitis/posadasii, Molecular Detection, PCR, Varies
Rapid detection of Coccidioides DNA, preferred method An aid in diagnosing coccidioidomycosis
SMAS - Overview: Smooth Muscle Antibody Screen, Serum
Evaluation of patients with hepatitis of unknown origin associated with hypergammaglobulinemia and/or abnormal liver enzymes
BIVAL - Overview: Bivalirudin, Ecarin, Plasma
Monitoring of bivalirudin therapy for patients with prolonged baseline activated partial thromboplastin time
NIUCR - Overview: Nickel/Creatinine Ratio, Random, Urine
Preferred specimen type for biomonitoring nickel exposure
PRSSZ - Overview: PRSS1 Gene, Full Gene Analysis, Varies
Confirmation of suspected clinical diagnosis of hereditary pancreatitis (HP) in patients with chronic pancreatitis Identification of familial PRSSI mutation to allow for predictive and diagnostic testing in family members
RB24 - Overview: Retinol-Binding Protein, 24 Hour, Urine
Assessing renal tubular injury or dysfunction Screening for other tubular abnormalities Detecting chronic asymptomatic renal tubular dysfunction.(2)
CARFT - Overview: Carbamazepine, Free and Total, Serum
Monitoring carbamazepine (free and total) therapy in patients who are uremic
TIWB - Overview: Titanium, Blood
Detecting and monitoring titanium exposure and potential implant status in patients with orthopedic implants
CHAGS - Overview: Trypanosoma cruzi Total Antibody, Enzyme-Linked Immunosorbent Assay, Serum
Diagnosis of chronic Trypanosoma cruzi infection (Chagas disease)
UPGC - Overview: Uroporphyrinogen III Synthase (Co-Synthase), Erythrocytes
Diagnosis of congenital erythropoietic porphyria This test is not useful for diagnosis of acute intermittent porphyria (AIP).
UHBAG - Overview: Histoplasma and Blastomyces Antigen, Enzyme Immunoassay, Urine
Diagnosing Histoplasma capsulatum or Blastomyces dermatitidis infection without differentiation between the organisms Monitor antigen levels following initiation of antifungal treatment
HIBAG - Overview: Histoplasma and Blastomyces Antigen, Enzyme Immunoassay, Serum
Diagnosing Histoplasma capsulatum or Blastomyces dermatitidis infection without differentiation between the organisms Monitor antigen levels following initiation of antifungal treatment
IGE - Overview: Immunoglobulin E (IgE), Serum
Evaluating patients with suspected diseases associated with elevations in total immunoglobulin E (IgE), including allergic disease, primary immunodeficiencies, infections, malignancies, or other inflammatory diseases Diagnostic evaluation...
IGAS - Overview: IgA Subclasses, Serum
Investigation of immune deficiency due to IgA2 deficiency Evaluating patients with anaphylactic transfusion reactions
LGBBS - Overview: Globotriaosylsphingosine, Blood Spot
Screening of patients with Fabry disease using dried blood spots when a serum specimen is not available This test should not be used for newborn screening followup.
HPFH - Overview: Hemoglobin F Distribution, Blood
Distinguishing large deletional hereditary persistence of fetal hemoglobin from other conditions with increased percentage of fetal hemoglobin (Hb F) Determining the distribution of Hb F within red blood cells
FFRWB - Overview: Friedreich Ataxia, Frataxin, Quantitative, Blood
Diagnosing individuals with Friedreich ataxia in whole blood specimens Monitoring frataxin levels in patients with Friedreich ataxia This test is not useful for carrier detection.
LEGRP - Overview: Legionella species, Molecular Detection, PCR, Varies
Sensitive and rapid diagnosis of pneumonia caused by Legionella species The assay is not recommended as a test of cure because bacteria nucleic acids may persist after successful treatment.
MUCN6 - Overview: Mucin 6, Immunostain, Technical Component Only
Aiding in subtyping intraductal papillary mucinous neoplasms as part of an immunopanel
helps in diagnosis, treatment, and prognosis of ALS and MS - Insights
neurofilament light chain (Nfl) proteins in blood, clinicians can better diagnose devastating diseases like ALS and MS, help predict disease progression, and better assess efficacy of existing drugs and trial therapies...
Frontotemporal dementia and ALS - Insights
Learn more about how detection of amyotrophic lateral sclerosis and frontotemporal dementia paved the way for gene-targeted therapies for patients.
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1939: Lou Gehrig Comes to Mayo Clinic #ThrowbackThursday - Insights
June 1939, his name became associated with an illness called amyotrophic lateral sclerosis (ALS). Today, ALS is known as Lou Gehrig’s Disease....
Hereditary Alzheimer's disease and dementia - Insights
Learn about our genetic testing for Alzheimer’s disease, amyotrophic lateral sclerosis (ALS), frontotemporal dementia, and CADASIL....