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Determining the etiology of hereditary persistence of fetal hemoglobin (HPFH), delta-beta thalassemia, or other large deletions involving the beta-globin gene cluster Diagnosing less common causes of beta-thalassemia; these large...

GBAW - Overview: Beta-Glucosidase, Leukocytes

Diagnosis of Gaucher disease This test is not intended for carrier detection.

UBKQN - Overview: BK Virus DNA Detection and Quantification, Random, Urine

Detection and serial monitoring of BK virus (BKV)-associated nephropathy in kidney transplant recipients using random urine specimens Detection and serial monitoring of BKV-associated hemorrhagic cystitis in organ transplant recipients

AATTF - Overview: Antithrombin Activity, with Reflex to Antithrombin Antigen, Plasma

Diagnosis of antithrombin deficiency, acquired or congenital

HTLLC - Overview: Human T-Cell Lymphotropic Virus Types 1 and 2 (HTLV-1/-2) Antibody Confirmation, Spinal Fluid

Confirmatory detection of human T-cell lymphotropic virus types 1 and 2 (HTLV-1 and HTLV-2)-specific IgG antibodies in spinal fluid specimens that are consistently reactive by initial screening tests Differentiating between HTLV-1- and...

HCVL - Overview: Hepatitis C Virus Antibody Confirmation, Serum

Confirming the presence of hepatitis C virus (HCV)-specific IgG antibodies in serum specimens that are reactive by HCV antibody screening tests Distinguishing between true- and false-reactive HCV antibody screening test results This test...

I2SB - Overview: Iduronate-2-Sulfatase, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidosis II (MPS II; Hunter syndrome) This test is not useful for determining carrier status for MPS II.

CMAPT - Overview: Chromosomal Microarray, Tumor, Formalin-Fixed Paraffin-Embedded

Genomic characterization of tumor for copy number imbalances and loss of heterozygosity Assisting in the diagnosis and classification of malignant neoplasms Evaluating the prognosis for patients with malignant tumors

CLFA - Overview: Cryptococcus Antigen Screen with Titer, Spinal Fluid

Aiding in the diagnosis of cryptococcosis This test should not be performed as a screening procedure for the general population. This test should not be used as a test of cure or to guide treatment decisions.

LFACX - Overview: Cryptococcus Antigen with Reflex, Spinal Fluid

Aiding in the diagnosis of cryptococcosis This test should not be used as a test of cure or to guide treatment decisions. This test should not be performed as a screening procedure for the general population.

HYOX - Overview: Hyperoxaluria Panel, Random, Urine

Distinguishing between primary and secondary hyperoxaluria Distinguishing between primary hyperoxaluria types 1, 2, and 3

HBVQN - Overview: Hepatitis B Virus (HBV) DNA Detection and Quantification by Real-Time PCR, Serum

Detection and quantification of hepatitis B virus (HBV) DNA in serum of patients with chronic HBV infection (ie, hepatitis B surface antigen-positive) Monitoring disease progression in chronic HBV infection Monitoring response to anti-HBV...

GPSYP - Overview: Glucopsychosine, Plasma

Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified Diagnosis and monitoring of patients with Gaucher disease using plasma specimens Supporting a biochemical diagnosis of Gaucher...

NCLBS - Overview: Neuronal Ceroid Lipofuscinosis, Two-Enzyme Panel, Blood Spot

Supporting the biochemical diagnosis of two neuronal ceroid lipofuscinoses, CLN1 and CLN2 This test is not useful for carrier detection.

PMMIL - Overview: Phosphomannomutase and Phosphomannose Isomerase, Leukocytes

Diagnosing congenital disorders of glycosylation Ia (phosphomannomutase-2 deficiency: PMM2-CDG) and Ib (phosphomannose isomerase deficiency: MPI-CDG) as measured in leukocytes Follow-up testing for patients with an abnormal type I CDG...

CFX - Overview: Protein C Activity, Plasma

As an initial test for evaluating patients suspected of having congenital protein C deficiency, including those with personal or family histories of thrombotic events Detecting and confirming congenital type I and type II protein C...

PEE - Overview: Porphyrins Evaluation, Whole Blood

Establishing a biochemical diagnosis of erythropoietic protoporphyria and X-linked dominant protoporphyria

SZMON - Overview: Sezary Monitoring Flow Cytometry, Blood

Monitoring response to therapy in patients with previously diagnosed Sezary syndrome or mycosis fungoides

STFRP - Overview: Shiga Toxin, Molecular Detection, PCR, Feces

Sensitive, specific, and rapid detection of the presence of Shiga toxin-producing organisms such as Escherichia coli O157:H7 and Shigella dysenteriae type 1 in stool This test is not recommended as a test of cure.

DRVI4 - Overview: Dilute Russell's Viper Venom Time (DRVVT) Interpretation

Interpreting mixing and confirmation assays for lupus anticoagulants

STL - Overview: Enteric Pathogens Culture, Feces

Determining whether a bacterial enteric pathogen is the cause of diarrhea May be helpful in identifying the source of the infectious agent (eg, dairy products, poultry, water, or meat) This test is generally not useful for patients...

XYMF - Overview: Known 45,X, Mosaicism Reflex Analysis, FISH, Whole Blood

Detecting sex chromosome mosaicism in patients with a 45,X karyotype

MYCO - Overview: Mycoplasma pneumoniae Antibodies, IgG and IgM, Serum

Screening for recent or past exposure to Mycoplasma pneumoniae This test should not be used as a screening procedure for the general population.

MLHPB - Overview: MLH1 Hypermethylation Analysis, Blood

As an adjunct to positive hypermethylation in tumor to distinguish between somatic and germline hypermethylation As an adjunct to negative MLH1 germline testing in cases where colon or endometrial tumor demonstrates microsatellite...

PEPAN - Overview: Comprehensive Peripheral Neuropathy Gene Panel, Varies

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

MUPAN - Overview: Comprehensive Neuromuscular Gene Panel, Varies

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

OIBFG - Overview: Osteogenesis Imperfecta and Bone Fragility Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive osteogenesis imperfecta and other hereditary conditions associated with bone fragility

THEV1 - Overview: Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum

Evaluation of microcytosis Extensive and economical diagnosis and classification of hemoglobinopathies or thalassemia, including complex disorders Diagnosis of hereditary persistence of hemoglobin

DWPAN - Overview: Comprehensive Distal Weakness Gene Panel, Varies

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

FBUS - Overview: Buspirone (Buspar)

Buspirone (Buspar)

FBEN - Overview: Benzene, Occupational Exposure, Blood

Benzene, Occupational Exposure, Blood

FBIUR - Overview: Bicarbonate, Urine

Bicarbonate, Urine

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