HEXBZ - Overview: Sandhoff Disease, HEXB Gene, Full Gene Analysis, Varies
Follow up for abnormal biochemical results suggestive of Sandhoff disease Establishing a molecular diagnosis for patients with Sandhoff disease Identifying variants within genes known to be associated with Sandhoff disease, allowing for...
HPANP - Overview: Hereditary Pancreatitis Gene Panel, Varies
Confirming a suspected clinical diagnosis of familial or hereditary pancreatitis in patients with chronic pancreatitis Identifying gene variants contributing to pancreatitis in an individual or family Identifying gene variants to allow...
Identifying HIV-1 genotypic mutations associated with resistance to nucleotide and non-nucleoside reverse-transcriptase inhibitors, protease inhibitors, and integrase strain transfer inhibitors Guiding initiation or change of combination...
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...
LLPT - Overview: Leukemia/Lymphoma Immunophenotyping, Flow Cytometry, Tissue
Evaluation of tissues for potential involvement by: -Chronic lymphoproliferative disorders -Malignant lymphomas -Acute lymphoblastic leukemia -Acute myelogenous leukemia
APGP - Overview: Acute Porphyria Gene Panel, Varies
Establishing a molecular diagnosis for patients with acute porphyria Identifying variants within genes known to be associated with acute porphyria, allowing for predictive testing of at-risk family members
ANST - Overview: Androstenedione, Serum
Diagnosis and differential diagnosis of hyperandrogenism, in conjunction with measurements of other sex steroids Diagnosis of congenital adrenal hyperplasia (CAH), in conjunction with measurement of other androgenic precursors,...
MCP2Z - Overview: MECP2 Gene, Full Gene Analysis, Varies
Establishing a molecular diagnosis in individuals with features of Rett syndrome and MECP2-related disorders Identifying pathogenic variants within the MECP2 gene known to be associated with Rett syndrome and MECP2-related disorders,...
NTC3Z - Overview: NOTCH3 Gene, Full Gene Analysis, Varies
Establishing a molecular diagnosis in individuals with features of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and NOTCH3-related disorders Identifying disease-causing variants...
NCLGP - Overview: Neuronal Ceroid Lipofuscinosis (Batten Disease) Gene Panel, Varies
Follow up for abnormal biochemical or electron microscopy results suspicious for neuronal ceroid lipofuscinoses (NCL) Establishing a molecular diagnosis for patients with NCL Identifying variations within genes known to be associated with...
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,...
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...
DRVI1 - Overview: Dilute Russell's Viper Venom Time (DRVVT), with Reflex, Plasma
Detecting and confirming or helping to exclude the presence of lupus anticoagulants (LA) Identifying LA that do not prolong the activated partial thromboplastin time (APTT) Evaluating unexplained prolongation of the APTT or prothrombin...
NSAIP - Overview: Neurosyphilis IgG Antibody Index with VDRL, Serum and Spinal Fluid
Aid in the diagnosis of neuroinvasive syphilis
MCSTP - Overview: MayoComplete Solid Tumor Panel, Next-Generation Sequencing, Tumor
Assisting in tumor profiling for diagnosis, predicting prognosis, and identifying targeted therapies for the treatment and management of patients with solid tumors Identifying somatic alterations including single nucleotide variants, small...
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...
Providing a genetic evaluation for patients with a personal or family history suggestive of recessive congenital methemoglobinemia Genotype confirmation of borderline cytochrome b5 reductase (methemoglobin reductase: METR) enzyme activity...
ALUPP - Overview: Lupus Anticoagulant Profile, Plasma
Confirming or excluding the presence of lupus anticoagulant (LA), distinguishing LA from specific coagulation factor inhibitors and nonspecific inhibitors Investigating a prolonged activated thromboplastin time, especially when combined...
SRYF - Overview: Sex-Determining Region Y, Yp11.3 Deletion, FISH
Detecting the deletion or addition of the SRY gene in conjunction with conventional chromosome studies
PFN - Overview: Propafenone, Serum
Monitoring propafenone therapy Assessing potential propafenone toxicity
RAT11 - Overview: Oxalate/Creatinine Ratio, Urine
Calculating the oxalate concentration per creatinine
THEV0 - Overview: Thalassemia Summary Interpretation, Blood
Incorporating and summarizing subsequent molecular results into an overall interpretation for the THEV1 / Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum
UREDF - Overview: Reducing Substance, Feces
Assisting in the differentiation between osmotic and nonosmotic diarrhea Screening test for: -Diarrhea from disaccharidase deficiencies, (eg, lactase deficiency) -Monosaccharide malabsorption
DLAU - Overview: D-Lactate, Urine
Preferred test for diagnosing D-lactate acidosis, especially in patients with jejunoileal bypass and short-bowel syndrome
UNHB - Overview: Hemoglobin Stability, Blood
Work-up of congenital hemolytic anemias
HK1 - Overview: Hexokinase Enzyme Activity, Blood
The evaluation of individuals with Coombs-negative chronic hemolysis
HKC - Overview: Hexokinase Enzyme Activity, Blood
The evaluation of individuals with Coombs-negative chronic hemolysis
ETX - Overview: Ethosuximide, Serum
Monitoring ethosuximide therapy Determining compliance Assessing ethosuximide toxicity
Detecting lead exposure using hair specimens
LASF1 - Overview: Lactic Acid, Spinal Fluid
Aid in differentiating between bacterial and viral meningitis Aid in identifying increased anaerobic glycolysis or hypoxia associated with bacterial meningitis, cerebral infarction, cerebral arteriosclerosis, intracranial hemorrhage,...
MURA - Overview: Lysozyme (Muramidase), Plasma
As a screening test for ocular sarcoidosis Confirming marked increases in the granulocyte or monocyte pools as in granulocytic or monocytic leukemias, myeloproliferative disorders, and malignant histiocytosis Following the course of...
Determining iodine overload using serum specimens Monitoring iodine levels in individuals taking iodine-containing drugs
MEX - Overview: Mexiletine, Serum
Assessing achievement of optimal therapeutic mexiletine concentrations Assessing potential mexiletine toxicity
ADMI - Overview: ADAMTS13 Interpretation
Technical interpretation of testing performed to assist in the diagnosis of congenital, immune, or acquired thrombotic thrombocytopenic purpura
NH3V - Overview: Ammonia, Plasma
Assisting in the diagnosis of hepatic coma Investigating and monitoring treatment for inborn errors of metabolism Evaluating patients with advanced liver disease
SP7CS - Overview: Septin-7 Antibody, Cell-Binding Assay, Serum
Detecting septin-7 IgG by cell-binding assay using serum specimens
TPI1 - Overview: Triosephosphate Isomerase Enzyme Activity, Blood
Evaluating individuals with chronic nonspherocytic hemolytic anemia Evaluating individuals with early onset neurologic impairment Genetic counseling for families with triosephosphate isomerase deficiency
CZPS - Overview: Clonazepam and 7-Aminoclonazepam, Serum
Assessing patient compliance Monitoring for appropriate therapeutic level Assessing clonazepam toxicity
CDP - Overview: Chlordiazepoxide and Metabolite, Serum
Monitoring chlordiazepoxide therapy Assessing toxicity
SP7CC - Overview: Septin-7 Antibody, Cell-Binding Assay, Spinal Fluid
Detecting septin-7 IgG by cell-binding assay using cerebrospinal fluid specimens
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
RPHOC - Overview: Phosphorus, Random, Urine
Evaluation of hypo- or hyperphosphatemic states Evaluation of patients with nephrolithiasis
APBCC - Overview: Adaptor Protein 3 Beta2 (AP3B2) Antibody, Cell-Binding Assay, Spinal Fluid
The differential diagnosis of patients presenting with mixed cerebellar and sensory ataxia and myeloneuropathy Evaluating AP3B2 (adaptor protein 3 beta2)-IgG by cell-binding assay using spinal fluid specimens
ETGL - Overview: Ethylene Glycol, Serum
Confirming and monitoring ethylene glycol toxicity
SSF1 - Overview: Nocardia Stain, Varies
Detecting Nocardia species and other partially-acid fast aerobic actinomycetes in clinical specimens
FLEC - Overview: Flecainide, Serum
Optimizing flecainide dosage Assessing flecainide toxicity Monitoring compliance
HBEL0 - Overview: Hemoglobin Electrophoresis Summary Interpretation
Incorporating and summarizing results into an overall evaluation for the HBEL1 / Hemoglobin Electrophoresis Evaluation, Blood
BALPF - Overview: B-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Pediatric, FISH, Varies
Detecting, at diagnosis, recurrent common chromosome abnormalities associated with B-cell acute lymphoblastic leukemia/lymphoma (B-ALL/LBL) and Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL) in pediatric patients...
CILPF - Overview: Congenital Infantile Leukemia, FISH, Tissue
Detecting a neoplastic clone associated with the common chromosome abnormalities and classic rearrangements seen in infant patients with leukemia using tissue specimens
Detecting drug use involving stimulants, barbiturate, benzodiazepines, cocaine, opioids, tetrahydrocannabinol, alcohol, and nicotine This test is not intended for use in employment-related testing.
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....