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Test Catalog

HIQNP - Overview: HIV-1 RNA Detection and Quantification, Prenatal, Plasma

Diagnosis of HIV-1 infection in pregnant individuals with acute or early HIV-1 infection Quantifying plasma HIV-1 RNA levels (viral load) in pregnant individuals living with HIV-1: -Before initiating anti-HIV-1 drug therapy (baseline viral...

QHV6P - Overview: Human Herpesvirus-6 A and B DNA Detection and Quantification, PCR, Plasma

As an adjunct in the rapid diagnosis of human herpesvirus-6 infection using plasma specimens This test should not be used to screen asymptomatic patients

FABRZ - Overview: Fabry Disease, Full Gene Analysis, Varies

Confirmation of a diagnosis of classic or variant Fabry disease in affected males with reduced alpha- galactosidase A enzyme activity Carrier or diagnostic testing for asymptomatic or symptomatic females, respectively

IGGS - Overview: IgG Subclasses, Serum

Second-order testing for evaluation of patients with clinical signs and symptoms of humoral immunodeficiency or combined immunodeficiency (cellular and humoral)

LNBAI - Overview: Lyme Central Nervous System Infection IgG, Antibody Index, Spinal Fluid

Providing antibody index information to aid in the diagnosis of neuroinvasive Lyme disease or neuroborreliosis due to Borrelia species associated with Lyme disease (eg, Borrelia burgdorferi, Borrelia garinii, Borrelia afzelli)

ALDG2 - Overview: Autoimmune Liver Disease Panel, Serum

Evaluating patients with suspected autoimmune liver disease, specifically autoimmune hepatitis or primary biliary cholangitis Evaluating patients with liver disease of unknown etiology

AACSF - Overview: Amino Acids, Quantitative, Spinal Fluid

Evaluating patients with possible inborn errors of amino acid metabolism, particularly nonketotic hyperglycinemia (glycine encephalopathy) and serine biosynthesis defects, especially when used in conjunction with concomitantly collected...

TFE3F - Overview: Alveolar Soft Part Sarcoma (ASPS)/Renal Cell Carcinoma (RCC), Xp11.23 (TFE3), FISH, Tissue

An aid in the diagnosis of alveolar soft-part sarcoma or renal cell carcinoma variant when used in conjunction with an anatomic pathology consultation

BRCAT - Overview: BRCA1/2 Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the BRCA1 and BRCA2 genes known to be associated with response to PARP inhibitors and sensitivity to platinum-based therapy This test is not intended for the evaluation of patients suspected of having...

TCD4 - Overview: CD4 Count for Immune Monitoring, Blood

Serial monitoring of CD4 T cell count in patients who are HIV-positive Follow-up and diagnostic evaluation of primary cellular immunodeficiencies, including severe combined immunodeficiency T-cell immune monitoring following...

MPS4B - Overview: Mucopolysaccharidosis IV Enzyme Panel, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidosis type IVA and IVB This test is not useful for carrier detection.

MLH1 - Overview: MLH1 Immunostain, Technical Component Only

Evaluation of tumor tissue to identify patients at high risk for having hereditary nonpolyposis colorectal cancer, also known as Lynch syndrome Evaluation of tumor tissue to identify patients at risk for having hereditary endometrial...

SHBG1 - Overview: Sex Hormone-Binding Globulin, Serum

Diagnosis and follow-up of women with signs or symptoms of androgen excess (eg, polycystic ovarian syndrome and idiopathic hirsutism) An adjunct in monitoring sex-steroid and antiandrogen therapy An adjunct in the diagnosis of disorders...

COMTQ - Overview: Catechol-O-Methyltransferase (COMT) Genotype, Varies

Prediction of response to nicotine replacement therapy for smoking cessation Investigation of inhibitor dosing for decreasing levodopa metabolism Research use for assessing estrogen metabolism

DRVI2 - Overview: Dilute Russell's Viper Venom Time (DRVVT) Mix Ratio, Plasma

Detecting the presence 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...

METRN - Overview: Metanephrines, Fractionated, Random, Urine

A second-order screening test for the presumptive diagnosis of pheochromocytoma in patients with non-episodic hypertension Confirming positive plasma metanephrine results in patients with non-episodic hypertension

ALAGP - Overview: Alagille Syndrome Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Alagille syndrome Establishing a diagnosis of Alagille syndrome

CHRCV - Overview: Chromosome Analysis, Chorionic Villus Sampling

Prenatal diagnosis of chromosome abnormalities, including aneuploidy (ie, trisomy or monosomy) and balanced rearrangements This test is not appropriate as a first-tier test for detecting gains or losses of chromosomal material in...

11AIH - Overview: Factor XI Inhibitor Profile, Professional Interpretation

Interpretation of testing for the detection and quantitation of inhibitor to coagulation factor XI

HLLFH - Overview: Hematologic Disorders, Leukemia/Lymphoma; Flow Hold, Varies

Evaluating lymphocytoses of undetermined etiology Identifying B- and T-cell lymphoproliferative disorders involving blood and bone marrow Distinguishing acute lymphoblastic leukemia (ALL) from acute myeloid leukemia (AML) Immunologic...

COGBF - Overview: B-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Children's Oncology Group Enrollment Testing, FISH, Varies

Evaluation of pediatric bone marrow and peripheral blood specimens by fluorescence in situ hybridization probe analysis for classic rearrangements and chromosomal copy number changes associated with B-cell acute lymphoblastic...

LCMS - Overview: Leukemia/Lymphoma Immunophenotyping, Flow Cytometry, Varies

Evaluating lymphocytoses of undetermined etiology Identifying B- and T-cell lymphoproliferative disorders involving blood and bone marrow Distinguishing acute lymphoblastic leukemia (ALL) from acute myeloid leukemia (AML) Immunologic...

HFET - Overview: Hereditary Hemochromatosis, HFE Variant Analysis, Varies

Establishing or confirming the clinical diagnosis of hereditary hemochromatosis (HH) in adults Testing of individuals with increased serum transferrin-iron saturation and ferritin Predictive testing of individuals who have a family...

PADF - Overview: Prenatal Aneuploidy Detection, FISH

Screening for chromosomal aneuploidies of chromosomes 13, 18, 21, X, and Y in prenatal specimens

RBCS - Overview: Relative B-Cell Subset Analysis Percentage, Blood

Screening for humoral or combined immunodeficiencies, including common variable immunodeficiency, hyper IgM syndrome, among others, where B-cell subset distribution information is desired Assessing B-cell subset reconstitution after...

HTG2 - Overview: Thyroglobulin, Tumor Marker, Serum

Follow-up of patients with differentiated thyroid cancers after thyroidectomy and radioactive iodine ablation

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

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

WILMP - Overview: Hereditary Wilms Tumor Panel, Varies

Evaluating isolated and syndromic causes of Wilms tumor Establishing a diagnosis to guide management for individuals with Wilms tumor Identifying a familial variant allowing for predictive testing and appropriate screening of at-risk...

HIVQN - Overview: HIV-1 RNA Detection and Quantification, Plasma

Quantifying plasma HIV-1 RNA levels (viral load) in individuals living with HIV-1: -Before initiating antiretroviral therapy to obtain baseline viral load -Who may have developed HIV-1 drug resistance while on antiretroviral therapy -Who...

EGFRW - Overview: EGFR Targeted Mutation Analysis with ALK Reflex, Tumor

Identifying non-small cell lung cancers that may benefit from treatment with epidermal growth factor receptor -targeted therapies or anaplastic lymphoma kinase inhibitors

LCMAL - Overview: Malaria, Molecular Detection, PCR, Varies

Detection of Plasmodium DNA and identification of the infecting species An adjunct to conventional microscopy of Giemsa-stained films, particularly in cases of low percent parasitemia or suboptimal parasite morphology Detection and...

AMH1 - Overview: Antimullerian Hormone, Serum

Assessing ovarian status, including ovarian reserve and responsiveness, as part of an evaluation for infertility and assisted reproduction protocols Assessment of menopausal status, including premature ovarian failure Evaluation of...

BHCG - Overview: Beta-Human Chorionic Gonadotropin, Quantitative, Serum

Monitoring patients for retained products of conception Aiding in the diagnosis of gestational trophoblastic disease (GTD), testicular tumors, ovarian germ cell tumors, teratomas, and, rarely, other human chorionic gonadotropin...

TAB - Overview: Thyroid Autoantibodies Profile, Serum

As an adjunct in the diagnosis of autoimmune thyroid diseases: Hashimoto disease, postpartum thyroiditis, neonatal hypothyroidism, and Graves disease Differentiating thyroid autoimmune disorders from nonautoimmune goiter or...

CHRAF - Overview: Chromosome Analysis, Amniotic Fluid

Prenatal diagnosis of chromosome abnormalities, including aneuploidy (ie, trisomy or monosomy) and balanced rearrangements

CATU - Overview: Catecholamine Fractionation, Free, 24 Hour, Urine

An auxiliary test to fractionated plasma and urine metanephrine measurements in the diagnosis of pheochromocytoma and paraganglioma An auxiliary test to urine vanillylmandelic acid and homovanillic acid determination in the diagnosis and...

DRV2 - Overview: Dilute Russell's Viper Venom Time (DRVVT) Mix, Plasma

Detecting the presence 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 time...

DRVI3 - Overview: Dilute Russell's Viper Venom Time (DRVVT) Confirmation Ratio, Plasma

Confirming the presence 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...

MCGST - Overview: MayoComplete Gastrointestinal Stromal Tumor (GIST) Panel, Next-Generation Sequencing, Tumor

Establishing diagnosis and identifying targeted therapies for patients with gastrointestinal stromal tumors Assessing microsatellite instability

ACC - Overview: Adrenal Mass Panel, 24 Hour, Urine

Aiding in assessing malignancy in adrenal masses May aid in improving diagnostic and prognostic prediction and dissect disease mechanisms for the following applications: -Diagnostic assessment and follow up of adrenal cortical...

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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....