Test Catalog Search Results
CDCOM - Overview: Celiac Disease Comprehensive Cascade, Serum and Whole Blood
Evaluating patients suspected of having celiac disease, including patients with compatible symptoms, patients with atypical symptoms, and individuals at increased risk (family history, previous diagnosis with associated...
NHEP - Overview: Hereditary Erythrocytosis Gene Panel, Next-Generation Sequencing, Varies
Evaluating an individual with JAK2-V617F negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit Providing an extensive genetic evaluation for patients...
GNPFD - Overview: Platelet Function Defect Gene Panel, Next-Generation Sequencing, Varies
Diagnosing hereditary platelet function defect disorders for patients who have a distinct platelet function defect pattern, such as Bernard-Soulier syndrome, revealed by laboratory phenotypic testing Confirming a hereditary platelet...
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,...
CHDGG - Overview: Congenital Heart Disease Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history of congenital heart disease Establishing a diagnosis of a genetic condition associated with congenital heart disease
QNKS - Overview: Natural Killer (NK)/Natural Killer T-Cell Subsets, Quantitative, Blood
Quantitation of the major natural killer (NK)-cell subsets relative to total NK cells (NK cell subsets) or total lymphocytes (NK T cells) Assessment in the following clinical contexts: HIV, primary immune deficiencies with NK cell...
MPSQU - Overview: Mucopolysaccharides Quantitative, Random, Urine
Supporting the biochemical diagnosis of one of the mucopolysaccharidoses: types I, II, III, IV, VI, or VII
TIKLB - Overview: Tick-Borne Panel, Molecular Detection, PCR, Blood
Evaluating patients with suspected human monocytic ehrlichiosis, human granulocytic anaplasmosis, babesiosis, or Borrelia miyamotoi infection Evaluating patients with a history of, or suspected, tick exposure who are presenting with...
PLASF - Overview: Plasma Cell Proliferative Disorder, FISH, Tissue
Supporting the diagnosis of plasmacytoma or myeloma when coordinated with a surgical pathology consultation Detecting, at diagnosis, recurrent common chromosome abnormalities in patients with a plasmacytoma or myeloma in paraffin-embedded...
Quantifying plasma HIV-1 RNA levels (viral load) in individuals (including children) with known HIV-1 infection, followed by identification of HIV-1 genotypic mutations associated with resistance to nucleotide and non-nucleoside...
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...
CVHBG - Overview: Comprehensive Cerebrovascular Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of a monogenic condition in which there is an increased risk for a cerebrovascular accident Establishing a diagnosis of a monogenic condition in which...
GSDGP - Overview: Glycogen Storage Disease Gene Panel, Varies
Follow up of abnormal biochemical results consistent with glycogen storage disease (GSD) Establishing a molecular diagnosis for patients with GSD Identifying variants within genes known to be associated with GSD allowing for predictive...
CRCGP - Overview: Hereditary Gastrointestinal Cancer Panel, Varies
Evaluating patients with a personal or family history suggestive of a hereditary gastrointestinal cancer or hereditary polyposis syndrome Establishing a diagnosis of a hereditary gastrointestinal cancer syndrome or hereditary polyposis...
RBART - Overview: Bartter Syndrome Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Bartter syndrome Establishing a diagnosis of Bartter syndrome
BAP1Z - Overview: BAP1-Tumor Predisposition Syndrome, BAP1 Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of BAP1-tumor predisposition syndrome (BAP1-TPDS) Establishing a diagnosis of BAP1-TPDS allowing for targeted cancer surveillance based on associated risks Identifying...
INTAD - Overview: Adalimumab Panel, Interpretation
Interpretation of therapeutic drug monitoring of adalimumab concentration and antibody levels
ATPCO - Overview: Anal ThinPrep Cytology with Human Papillomavirus (HPV) Co-Test, Varies
Detection of malignant and premalignant changes Detection of high-risk (HR) genotypes associated with the development of anal cancer Individual genotyping of human papillomavirus (HPV)-16 and HPV-18, if present May aid in triaging men...
CTSU - Overview: Ceramide Trihexosides and Sulfatides, Random, Urine
Identifying patients with Fabry disease Identifying patients with metachromatic leukodystrophy Identifying patients with saposin B deficiency Identifying patients with multiple sulfatase deficiency Identifying patients with...
CMACB - Overview: Chromosomal Microarray, Congenital, Blood
First-tier, postnatal testing for individuals with multiple anomalies that are not specific to well-delineated genetic syndromes, apparently nonsyndromic developmental delay or intellectual disability, or autism spectrum disorders as...
NCDA - Overview: Congenital Dyserythropoietic Anemia Gene Panel, Next-Generation Sequencing, Varies
Confirming the diagnosis or carrier variant status of genes associated with congenital dyserythropoietic anemia Identifying variants within genes associated with phenotypic severity, allowing for predictive testing and further genetic...
DAGL - Overview: Gliadin (Deamidated) Antibody, IgA, Serum
Assessment of deaminated gliadin IgA antibodies for evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased risk (family...
DGGL - Overview: Gliadin (Deamidated) Antibody, IgG, Serum
Assessment of deaminated gliadin IgG antibodies for evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased risk (family...
DGLDN - Overview: Gliadin (Deamidated) Antibodies Evaluation, IgG and IgA, Serum
Assessment of deaminated gliadin IgA and IgG antibodies for evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased 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...
NAGS - Overview: Hexosaminidase A and Total Hexosaminidase, Serum
Carrier detection and diagnosis of Tay-Sachs disease and Sandhoff disease Ruling out I-cell disease This test is not useful for pregnant females or those treated with hormonal contraception.
PKLRZ - Overview: PKLR Full Gene Analysis, Varies
Aiding in the diagnosis of pyruvate kinase (PK) deficiency Ascertaining a causative variant in the PKLR gene of patients with low or relatively low levels of erythrocytic PK enzymatic activity Ascertaining carrier status of family members...
PQNU - Overview: Porphyrins, Quantitative, 24 Hour, Urine
Preferred screening test for congenital erythropoietic porphyria and porphyria cutanea tarda and during symptomatic periods for acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria when specimen transport will be...
Establishing a diagnosis of lymphoplasmacytic lymphoma/Waldenstrom macroglobulinemia (LPL/WM) Helping distinguish LPL/WM low-grade B-cell lymphoma from other subtypes Aiding in the prognosis and clinical management of lymphoplasmacytic...
MTBRP - Overview: Mycobacterium tuberculosis Complex, Molecular Detection, PCR, Varies
Rapid detection of Mycobacterium tuberculosis complex DNA (preferred method) Detection of M tuberculosis, when used in conjunction with mycobacterial culture This test does not assess M tuberculosis rifampin resistance. This test...
META3 - Overview: Metanephrines with 3-Methoxytyramine, 24 Hour, Urine
A first- and second-tier screening test for the presumptive diagnosis of catecholamine-secreting pheochromocytomas and paragangliomas
Simultaneous detection and differentiation of SARS-CoV-2 (cause of COVID-19), influenza A virus, influenza B virus, and respiratory syncytial virus in upper or lower respiratory tract specimens from individuals with flu-like illnesses
Simultaneous detection and differentiation of SARS-CoV-2 (cause of COVID-19), influenza A virus, and influenza B virus in upper or lower respiratory tract specimens from individuals with flu-like illnesses
TREGS - Overview: T-Cell Subsets, Regulatory (Tregs), Blood
Evaluating patients with clinical features of IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked inheritance) and other primary immunodeficiencies, autoimmune diseases, allergy and asthma, and graft-vs-host disease...
TBNY - Overview: T, B and NK Lymphocyte Quantitation, New York, Blood
Only orderable by New York clients Serial monitoring of CD4 T-cell count in patients who are HIV-positive Follow-up and diagnostic evaluation of primary immunodeficiencies, including severe combined immunodeficiency Immune monitoring...
1A2Q - Overview: Cytochrome P450 1A2 Genotype, Varies
Identifying individuals who are poor, intermediate, normal (extensive) or rapid metabolizers of drugs metabolized by cytochrome P450 1A2 to assist drug therapy decision making
CHRAF - Overview: Chromosome Analysis, Amniotic Fluid
Prenatal diagnosis of chromosome abnormalities, including aneuploidy (ie, trisomy or monosomy) and balanced rearrangements
Diagnosis of inflammatory demyelinating diseases (IDD) with similar phenotype to neuromyelitis optica (NMO) spectrum disorder (NMOSD), including optic neuritis (single or bilateral) and transverse myelitis Diagnosis of autoimmune myelin...
MUGS - Overview: Hexosaminidase A, Serum
Second-order test for diagnosing the B1 variant of Tay-Sachs disease This test is not useful for testing for Sandhoff disease.
PBKQN - Overview: BK Virus DNA Detection and Quantification, Plasma
Detection and serial monitoring of BK virus-associated nephropathy in kidney transplant recipients using plasma specimens Detection and serial monitoring of BK virus-associated hemorrhagic cystitis in organ transplant recipients
GAAW - Overview: Acid Alpha-Glucosidase, Leukocytes
Diagnosis of Pompe disease
WAGDR - Overview: Alpha Globin Cluster Locus Deletion/Duplication, Blood
Diagnosis of alpha-thalassemia Carrier screening for individuals from high-risk populations for alpha-thalassemia This test is not useful for diagnosis or confirmation of beta-thalassemia or hemoglobinopathies.
AN1TS - Overview: Antineuronal Nuclear Antibody-Type 1 (ANNA-1) Titer, Serum
Diagnosis of paraneoplastic autoimmune neuropathies, encephalomyeloradiculopathies, related neurologic disorders, and intestinal pseudo-obstruction/dysmotility associated with small-cell lung carcinoma Reporting an end titer result from...
EAG - Overview: Hepatitis B Virus e Antigen, Serum
Determining the presence or absence of detectable hepatitis B virus e antigen in monitoring infection status of individuals with chronic hepatitis B Determining infectivity of hepatitis B virus (HBV) carriers Monitoring serologic...
HBGCD - Overview: Hepatitis B Surface Antigen for Cadaveric or Hemolyzed Specimens, Serum
Testing cadaveric and hemolyzed blood specimens for hepatitis B surface antigen (HBsAg); US Food and Drug Administration-licensed for use with hemolyzed specimens Diagnosis of acute, recent (<6-month duration), or chronic hepatitis B...
Providing prognostic information in patients with newly diagnosed B-cell chronic lymphocytic leukemia This test is not intended for use in providing prognostic information for patient with other B-cell neoplasms or hematopoietic tumors.
KCSFP - Overview: Immunoglobulin Kappa Free Light Chain, Spinal Fluid
Diagnosis of multiple sclerosis and other demyelinating conditions
JAKXB - Overview: JAK2 Exon 12 and Other Non-V617F Mutation Detection, Blood
Second-order testing to aid in the distinction between a reactive cytosis and a myeloproliferative neoplasm, particularly when a diagnosis of polycythemia is being considered, using blood specimens
CLFAT - Overview: Cryptococcus Antigen Titer, Lateral Flow Assay, Spinal Fluid
Monitoring Cryptococcus antigen titers in cerebrospinal fluid Aiding in the diagnosis of cryptococcosis This test should not be used as a test of cure or to guide treatment decisions.
HBIM - Overview: Hepatitis B Virus Core IgM Antibody, Serum
Diagnosis of acute hepatitis B virus (HBV) infection Identifying acute HBV infection in the serologic window period when HBV surface antigen and HBV surface antibody results are negative Differentiation between acute, chronic, or past...