Test Catalog Search Results

DCORT - Overview: 11-Deoxycortisol, Serum

Diagnostic workup of patients with congenital adrenal hyperplasia Part of metyrapone testing in the workup of suspected secondary or tertiary adrenal insufficiency Part of metyrapone testing in the differential diagnostic workup of...

WASEQ - Overview: Alpha Globin Gene Sequencing, Varies

Diagnosing nondeletional alpha thalassemia Testing for nondeletional alpha thalassemia in a symptomatic individual Follow-up testing to an abnormal hemoglobin electrophoresis that identified an alpha-globin chain variant

RTQPC - Overview: Abnormal Prion Protein, Real-Time Quaking Induced Conversion, Spinal Fluid

Aiding in diagnosing sporadic Creutzfeldt-Jakob disease or other prion disease in patients with a rapidly progressive dementia

AH50 - Overview: Alternative Complement Pathway, Functional, Serum

Investigation of suspected alternative pathway complement deficiency, atypical hemolytic uremic syndrome, C3 glomerulonephritis, and dense-deposit disease

AIHL - Overview: Aminoglycoside-Induced Hearing Loss, Targeted Variant Testing, Droplet Digital PCR, Varies

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...

VWFMS - Overview: von Willebrand Factor Multimer Analysis, Plasma

Resolving discrepancies when results of complementary laboratory tests (eg, F8A / Coagulation Factor VIII Activity Assay, Plasma; VWACT / von Willebrand Factor Activity, Plasma; and VWAG / von Willebrand Factor Antigen, Plasma) are...

VWD8B - Overview: von Willebrand Disease 2N (Subtype Normandy), Plasma

Diagnosing von Willebrand disease (VWD) type 2N Evaluating patients diagnosed with mild-to-moderate hemophilia A with an autosomal inheritance pattern Evaluating hemophilia A patients with a shortened survival of infused factor VIII...

ASMW - Overview: Acid Sphingomyelinase, Leukocytes

Investigation of possible diagnosis of Niemann-Pick disease types A and B This test is not recommended for carrier detection because of the wide range of enzymatic activities observed in carriers and noncarriers.

ARSBW - Overview: Arylsulfatase B, Leukocytes

Supporting the biochemical diagnosis of mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) in whole blood specimens This test is not useful for carrier detection for MPS VI.

AL - Overview: Aluminum, Serum

Monitoring for aluminum toxicity in patients undergoing dialysis Routine aluminum screening Monitoring metallic prosthetic implant wear

Q10 - Overview: Coenzyme Q10, Reduced and Total, Plasma

Diagnosis of primary coenzyme Q10 (CoQ10) deficiencies in some patients who are not supplemented with CoQ10 Diagnosis of CoQ10 deficiency in mitochondrial disorders Monitoring CoQ10 status during treatment of various degenerative...

HPS12 - Overview: HIV-1/HIV-2 RNA Detection Prenatal, Serum

Diagnosis of HIV-1 and/or HIV-2 infection in pregnant individuals with indeterminate or inconclusive HIV serologic test results Diagnosis of HIV-1 and/or HIV-2 infection in pregnant individuals in the acute or early phase of HIV-1 and/or...

HPP12 - Overview: HIV-1/HIV-2 RNA Detection Prenatal, Plasma

Diagnosis of HIV-1 and/or HIV-2 infection in pregnant individuals with indeterminate or inconclusive HIV serologic test results Diagnosis of HIV-1 and/or HIV-2 infection in pregnant individuals in the acute or early phase of HIV-1 and/or...

FFRBS - Overview: Friedreich Ataxia, Frataxin, Quantitative, Blood Spot

Diagnosing individuals with Friedreich ataxia in blood spot specimens Monitoring frataxin levels in patients with Friedreich ataxia This test is not useful for carrier detection.

11INE - Overview: Factor XI Inhibitor Evaluation, Plasma

Detection and quantitation of inhibitor to coagulation factor XI This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a nonspecific circulating anticoagulant, or other inhibitors that are not...

7INHE - Overview: Factor VII Inhibitor Evaluation, Plasma

Detection and quantitation of inhibitor to coagulation factor VII This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a nonspecific circulating anticoagulant, or other inhibitors that are not...

2INHE - Overview: Factor II Inhibitor Evaluation, Plasma

Detection and quantitation of inhibitor to factor II This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a nonspecific circulating anticoagulant, or other inhibitors that are not specific for...

9INHE - Overview: Factor IX Inhibitor Evaluation, Plasma

Detection and titering of coagulation inhibitor to the specific factor requested, primarily factor IX in patients with hemophilia B This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a...

DSM4X - Overview: Drugs of Abuse Screen 4, Chain of Custody, Meconium

Identifying amphetamines (and methamphetamines) and opiates, as well as metabolites of cocaine and marijuana in meconium specimen Chain of custody is required whenever the results of testing could be used in a court of law. Its purpose is...

CRGSP - Overview: Cryoglobulin and Cryofibrinogen Panel, Serum and Plasma

Evaluating patients with vasculitis, glomerulonephritis, and lymphoproliferative diseases Evaluating patients with macroglobulinemia or myeloma in whom symptoms occur with cold exposure This test is not useful for general screening of a...

ANCA - Overview: Cytoplasmic Neutrophil Antibodies, Serum

Evaluating patients with clinical features of ANCA-associated vasculitis, specifically granulomatosus with polyangiitis, microscopic polyangiitis, and eosinophilic granulomatosus with polyangiitis

CDGN - Overview: Congenital Disorders of N-Glycosylation, Serum

Screening for N-linked congenital disorders of glycosylation Providing information on specific structural oligosaccharide abnormalities to potentially direct further genetic testing

CSTB - Overview: CSTB Gene, Repeat Expansion Analysis, Varies

Molecular confirmation of clinically suspected CSTB-related progressive myoclonic epilepsy Identifying full penetrance dodecamer repeat expansions within CSTB known to cause CSTB-related progressive myoclonic epilepsy, allowing for...

SLYME - Overview: Lyme Antibody Modified 2-Tier with Reflex, Serum

Diagnosis of Lyme disease This test should not be used as a screening procedure for the general population.

I2SWB - Overview: Iduronate-2-Sulfatase, Leukocytes

Supporting the biochemical diagnosis of mucopolysaccharidosis II (MPS II; Hunter syndrome) in whole blood specimens This test is not useful for carrier detection for MPS II.

LAD1 - Overview: Leukocyte Adhesion Deficiency Type 1, CD11a/CD18 and CD11b/CD18 Complex Immunophenotyping, Blood

Aiding in the diagnosis of leukocyte adhesion deficiency syndrome type 1, primarily in patients younger than 18 years CD11a, CD11b, and CD18 phenotyping

HBNTP - Overview: Hepatitis B Virus Surface Antigen Confirmation, Prenatal, Serum

Diagnosis of acute, recent, or chronic hepatitis B in prenatal patients This test is not useful during the "window period" of acute hepatitis B (ie, after disappearance of hepatitis B virus surface antigen [HBsAg] and prior to appearance...

KRASP - Overview: KRAS Somatic Mutation Analysis, Tumor

Detecting molecular markers associated with response or resistance to specific cancer therapies

AHDV - Overview: Hepatitis D Virus (HDV) Total Antibodies with Reflex to HDV RNA Detection and Quantitation, PCR, Serum

Detection of hepatitis D virus (HDV)-specific total antibodies (combined IgG and IgM) in human serum Diagnosis of concurrent HDV infection in patients with fulminant acute hepatitis B virus (HBV) infection (acute coinfection), chronic...

MATCC - Overview: Maternal Cell Contamination, Molecular Analysis, Varies

Ruling out the presence of maternal cell contamination within a fetal specimen Required for all prenatal testing performed in Mayo Clinic Laboratories' Molecular and Biochemical Genetics laboratories

CDG - Overview: Carbohydrate Deficient Transferrin for Congenital Disorders of Glycosylation, Serum

Screening for congenital disorders of glycosylation This test is not useful for screening patients for chronic alcohol abuse.

VHPV - Overview: Human Papillomavirus (HPV) Vaginal Detection with Genotyping for High-Risk Types by PCR

Detection of high-risk (HR) genotypes associated with the development of cervical cancer Aids in triaging women with abnormal Pap smear results Individual genotyping of human papillomavirus (HPV)-16 and/or HPV-18 if present Results of...

DBMD - Overview: Duchenne/Becker Muscular Dystrophy, DMD Gene, Large Deletion/Duplication Analysis, Varies

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...

CMAPC - Overview: Chromosomal Microarray, Autopsy, Products of Conception, or Stillbirth

Prenatal diagnosis of copy number changes (gains or losses) across the entire genome Diagnosing chromosomal causes for fetal death Determining recurrence risk of future pregnancy losses Determining the size, precise breakpoints, gene...

IMNP - Overview: Inherited Motor Neuropathy Gene Panel, Varies

Establishing a molecular diagnosis for patients with distal hereditary motor neuropathy (dHMN) Identifying variants within genes known to be associated with dHMN, allowing for predictive testing of at-risk family members

LNBAB - Overview: Lyme Central Nervous System Infection IgG with Antibody Index Reflex, Serum and Spinal Fluid

Aiding in the diagnosis of neuroinvasive Lyme disease or neuroborreliosis due to Borrelia species associated with Lyme disease (eg, Borrelia burgdorferi, Borrelia garinii, Borrelia afzelli)

HPCUT - Overview: Hematopathology Consultation, Client Embed

Obtaining a rapid, expert opinion for diagnosis of hematologic and nonhematologic diseases using bone marrow biopsy specimens referred by the primary pathologist Obtaining special studies that are not available locally

HPV - Overview: Human Papillomavirus (HPV) DNA Detection with Genotyping, High-Risk Types by PCR, ThinPrep, Varies

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 Results...

MNDP - Overview: Inherited Motor Neuron Disease Gene Panel, Varies

Establishing a molecular diagnosis for patients with motor neuron disease Identifying variants within genes known to be associated with motor neuron disease, allowing for predictive testing of at-risk family members

MDYSP - Overview: Inherited Muscular Dystrophy Gene Panel, Varies

Establishing a molecular diagnosis for patients with muscular dystrophy Identifying variants within genes known to be associated with muscular dystrophy, allowing for predictive testing of at-risk family members

NAGR - Overview: Hexosaminidase A and Total, Leukocytes/Molecular Reflex, Whole Blood

Carrier detection and diagnosis of Tay-Sachs disease Carrier detection and diagnosis of Sandhoff disease

RENCP - Overview: Hereditary Renal Cancer Panel, Varies

Evaluating patients with a personal or family history suggestive of a hereditary renal cancer syndrome Establishing a diagnosis of a hereditary renal cancer syndrome allowing for targeted cancer surveillance based on associated risks...

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...

RSCGP - Overview: Nephrocalcinosis, Nephrolithiasis, and Renal Electrolyte Imbalance Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of nephrocalcinosis, nephrolithiasis, or renal electrolyte imbalance Establishing a diagnosis for a variety of hereditary...

MSTF - Overview: Myeloid Sarcoma, FISH, Tissue

Detecting, at diagnosis, recurrent common chromosome abnormalities associated with acute myeloid leukemia (AML)/myeloid sarcomas in paraffin-embedded specimens Monitoring response to therapy by tracking known chromosome abnormalities in...

LAGGT - Overview: Granulocyte Antibodies, Serum

Work-up of individuals having febrile, nonhemolytic transfusion reactions Detection of individuals with autoimmune neutropenia This test is not useful for the diagnosis of neutropenia caused by marrow suppression by drugs or tumors.

APRI - Overview: Prolonged Clot Time Profile Interpretation

Interpretation of testing performed as part of a profile to determine the cause of prolongation of prothrombin time or activated partial thromboplastin time Interpretation of testing performed as part of a profile for screening for...