Search Results
Test Catalog
GALT - Overview: Galactose-1-Phosphate Uridyltransferase, Blood
Diagnosis of galactose-1-phosphate uridyltransferase deficiency, the most common cause of galactosemia Confirmation of abnormal state newborn screening results
HSVG - Overview: Herpes Simplex Virus (HSV) Type 1- and Type 2-Specific Antibodies, IgG, Serum
Determining whether a patient has been previously exposed to herpes simplex virus (HSV) types 1 and 2 Distinguishing between infection caused by HSV types 1 and 2, especially in patients with subclinical or unrecognized HSV infection...
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
NSE - Overview: Neuron-Specific Enolase, Serum
A follow-up marker in patients with neuron-specific enolase-secreting tumors of any type An auxiliary test in the diagnosis of small cell lung carcinoma An auxiliary test in the diagnosis of carcinoids, islet cell tumors, and...
NUT1F - Overview: NUTM1 (15q14) Rearrangement, FISH, Tissue
Identifying NUTM1 gene rearrangements in patients with nuclear protein in testis midline carcinoma to aid in confirming or excluding the diagnosis
PLINK - Overview: Paroxysmal Nocturnal Hemoglobinuria, PI-Linked Antigen, Blood
Screening for and confirming the diagnosis of paroxysmal nocturnal hemoglobinuria (PNH) Monitoring patients with PNH
EBVPV - Overview: Epstein-Barr Virus (EBV), Molecular Detection, PCR, Varies
Rapid qualitative detection of Epstein-Barr virus (EBV) DNA in specimens Diagnosis of disease due to EBV This test should not be used to screen asymptomatic patients.
8INHE - Overview: Factor VIII Inhibitor Evaluation, Plasma
Detecting the presence and titer of a specific factor inhibitor directed against coagulation factor VIII This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a nonspecific circulating...
FAO - Overview: Fatty Acid Oxidation Probe Assay, Fibroblast Culture
In vitro confirmation of biochemical diagnoses of the following fatty acid oxidation disorders: -Short-chain acyl-CoA dehydrogenase deficiency -Medium-chain acyl-CoA dehydrogenase deficiency -Long-chain 3-hydroxyacyl-CoA dehydrogenase...
XYMF - Overview: Known 45,X, Mosaicism Reflex Analysis, FISH, Whole Blood
Detecting sex chromosome mosaicism in patients with a 45,X karyotype
MRSAP - Overview: Methicillin Resistant Staphylococcus aureus, PCR, Nasal
Rapid screening test for Staphylococcus aureus nasal carriage that, if positive, indicates whether the S aureus is methicillin susceptible or resistant This test should not be used to guide or monitor treatment for methicillin-resistant S...
DDITF - Overview: Myxoid/Round Cell Liposarcoma, 12q13 (DDIT3 or CHOP) Rearrangement, FISH, Tissue
Aiding in the diagnosis of myxoid/round cell liposarcoma by detecting a neoplastic clone associated with gene rearrangement involving the DDIT3 (CHOP) gene region at 12q13
Supporting the diagnosis of low-grade fibromyxoid sarcoma when used in conjunction with an anatomic pathology consultation
SGTF - Overview: MYB (6q23) Rearrangement FISH, Tissue
Assessing for MYB gene rearrangements in patients with primary salivary gland carcinoma to aid in confirming or excluding the diagnosis of primary salivary gland adenoid cystic carcinomas
USPF - Overview: USP6 (17p13), Aneurysmal Bone Cyst and Nodular Fasciitis, FISH, Tissue
Supporting the diagnosis of aneurysmal bone cyst or nodular fasciitis
Predicting risk for statin-associated myopathy in patients beginning statin therapy, especially simvastatin therapy Determining a potential statin lipid lowering response, especially when using pravastatin
1A2Q - Overview: Cytochrome P450 1A2 Genotype, Varies
Identifying individuals who are poor, intermediate, normal (extensive) or rapid metabolizers of drugs metabolized by cytochrome P450 1A2 to assist drug therapy decision making
MMPP - Overview: Mitochondrial Metabolites, Plasma
Monitoring patients with mitochondrial disorders, organic acidurias, and ketone body disorders
HRSPF - Overview: Horse Dander, IgE with Reflex to Horse Dander Component, IgE, Serum
Evaluating patients with suspected horse dander allergy
BHISI - Overview: Bone Histomorphometry, Consultant Interpretation, Slides Only
Identifying undetermined metabolic bone disease in submitted slide specimens Diagnosing renal osteodystrophy Diagnosing osteomalacia Diagnosing osteoporosis Diagnosing Paget disease Assessing the effects of therapy Identifying...
ASHA - Overview: Arsenic, Hair
Detection of nonacute arsenic exposure in hair specimens
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
REVE0 - Overview: Erythrocytosis Summary Interpretation
Incorporating and summarizing subsequent results into an overall interpretation for the REVE2 / Erythrocytosis Evaluation, Blood
LITH - Overview: Lithium, Serum
Monitoring therapy of patients with bipolar disorders, including recurrent episodes of mania and depression Evaluating lithium toxicity
PBOU - Overview: Lead Occupational Exposure, Random, Urine
Detecting clinically significant lead exposure due to occupational exposure in random urine specimens This test is not a substitute for blood lead screening.
SP5CC - Overview: Septin-5 Antibody, Cell-Binding Assay, Spinal Fluid
Detecting septin-5 IgG by cell-binding assay using cerebrospinal fluid specimens
SP5CS - Overview: Septin-5 Antibody, Cell Binding Assay, Serum
Detecting septin-5 IgG by cell-binding assay using serum specimens
GNHMA - Overview: Hemophilia A, F8 Gene, Next-Generation Sequencing, Varies
Confirming a clinical diagnosis of hemophilia A in affected male patients with the identification of a disease-causing variant in the F8 gene Determining the disease-causing alteration within the F8 gene to delineate the underlying...
NEPHP - Overview: Comprehensive Nephrology Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary kidney disease Establishing a diagnosis for a variety of hereditary kidney conditions including focal segmental glomerulosclerosis,...
Evaluating patients with a personal or family history suggestive of hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome or fumarate hydratase deficiency (FHD) Establishing a diagnosis of HLRCC or FHD allowing for targeted...
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...
BTKSG - Overview: Bruton Tyrosine Kinase, BTK Full Gene Analysis, Varies
Confirming a diagnosis of X-linked agammaglobulinemia in patients with a history of recurrent sinopulmonary infections, profound hypogammaglobulinemia, and less than 1% peripheral B cells, with or without abnormal Bruton tyrosine kinase...
AMLMF - Overview: Acute Myeloid Leukemia (AML), Specified FISH, Varies
Detecting recurrent common chromosome abnormalities seen in patients with acute myeloid leukemia (AML) using a client-specified probe set An adjunct to chromosome studies in patients with AML Evaluating specimens in which chromosome...
NHHA - Overview: Hereditary Hemolytic Anemia Gene Panel, Next-Generation Sequencing, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of hereditary hemolytic anemias, including red blood cell (RBC) membrane/hydration disorders, RBC enzymopathies, and congenital...
LPMGF - Overview: Lymphocyte Proliferation to Mitogens, Blood
Assessing T-cell function in patients on immunosuppressive therapy, including solid-organ transplant patients Evaluating patients suspected of having impairment in cellular immunity Evaluation of T-cell function in patients with primary...
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...
MPSQU - Overview: Mucopolysaccharides Quantitative, Random, Urine
Supporting the biochemical diagnosis of one of the mucopolysaccharidoses: types I, II, III, IV, VI, or VII
UGTFZ - Overview: UDP-Glucuronosyltransferase 1A1 (UGT1A1), Full Gene Sequencing, Varies
Establishing a diagnosis of Crigler-Najjar syndrome type I or type II and the trait of Gilbert syndrome Establishing carrier status for Crigler-Najjar syndrome type I or type II Identifying individuals who are at risk of...
CKDGP - Overview: Cystic Kidney Disease Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history of cystic kidney disease Establishing a diagnosis of hereditary cystic kidney disease
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...
Confirmation of a clinical diagnosis of Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) Distinguishing DMD from BMD in some cases, based on the type of deletion detected (allows for better prediction of...
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...
SMNCS - Overview: Spinal Muscular Atrophy Carrier Screening, Deletion/Duplication Analysis, Varies
General population carrier screening for spinal muscular atrophy (SMA) Carrier screening for reproductive partners of known SMA carriers Carrier screening for parents of a child with a known deletion of the survival motor neuron 1 gene...
ARSU - Overview: Arylsulfatase A, 24 Hour, Urine
Detection of arylsulfatase A deficiency using urine specimens This test is not suitable for carrier detection.
ANAES - Overview: Bacterial Culture, Anaerobic with Antimicrobial Susceptibilities, Varies
Diagnosing anaerobic bacterial infections Directing antimicrobial therapy for anaerobic infections
INHB - Overview: Inhibin B, Serum
Aiding in the diagnosis of granulosa cell tumors and mucinous epithelial ovarian tumors Monitoring of patients with granulosa cell tumors and epithelial mucinous-type tumors of the ovary known to overexpress inhibin B As an adjunct to...
CHRHB - Overview: Chromosome Analysis, Hematologic Disorders, Blood
Assisting in the classification and follow-up of certain malignant hematological disorders when bone marrow is not available This test is not useful for congenital disorders.
HSVPV - Overview: Herpes Simplex Virus (HSV), Molecular Detection, PCR, Varies
Aiding in the rapid diagnosis of herpes simplex virus (HSV) infections, including qualitative detection of HSV DNA in nonblood clinical specimens This test should not be used to screen asymptomatic patients.
MDSMF - Overview: Myelodysplastic Syndrome (MDS), Specified FISH, Varies
Detecting a neoplastic clone associated with the common chromosome abnormalities seen in patients with myelodysplastic syndromes or other myeloid malignancies using client specified probes Evaluating specimens in which standard...
PCMSP - Overview: Postmortem Inherited Congenital Myasthenia Syndrome Gene Panel, Tissue
Identifying variants within genes known to be associated with congenital myasthenic syndrome, allowing for predictive testing of at-risk family members Providing a comprehensive postmortem genetic evaluation in the setting of a congenital...
Site Search
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.
search - Mayo Clinic Laboratories
No pages were found containing "dengue". Suggestions: Make sure al...
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....