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)
ALKT - Overview: ALK Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying mutations within the ALK gene that predict resistance to ALK-inhibitors
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...
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...
BRFKT - Overview: BRAF and KIT Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the BRAF and KIT genes that predict response to therapy
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...
CELI - Overview: Celiac Associated HLA-DQ Alpha 1 and DQ Beta 1 DNA Typing, Blood
Assessing risk of celiac disease
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...
2AINH - Overview: Factor II Inhibitor Profile, Professional Interpretation
Interpretation of testing for the detection and quantitation of inhibitor to factor II
10AIH - Overview: Factor X Inhibitor Profile, Professional Interpretation
Interpretation of the detection and quantitation of inhibitor to coagulation factor X
11AIH - Overview: Factor XI Inhibitor Profile, Professional Interpretation
Interpretation of testing for the detection and quantitation of inhibitor to coagulation factor XI
7AINH - Overview: Factor VII Inhibitor Profile, Professional Interpretation
Interpretation of testing for the detection and quantitation of inhibitor to factor VII
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...
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
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...
Establishing diagnosis and identifying targeted therapies for patients with gastrointestinal stromal tumors Assessing microsatellite instability
7INHT - Overview: Factor VII Inhibitor Profile, Technical Interpretation
Technical interpretation of inhibitor to coagulation factor VII testing
5INHT - Overview: Factor V Inhibitor Profile, Technical Interpretation
Technical interpretation of inhibitor to factor V testing
10INT - Overview: Factor X Inhibitor Profile, Technical Interpretation
Technical interpretation of inhibitor to coagulation factor X testing
FANG1 - Overview: Angiotensin I, Plasma
Angiotensin I, Plasma
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...
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....