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Test Catalog
IPFGP - Overview: Idiopathic Pulmonary Fibrosis Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of familial idiopathic pulmonary fibrosis Establishing a diagnosis of familial idiopathic pulmonary fibrosis associated with known...
MMAGP - Overview: Methylmalonic Aciduria Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of a methylmalonic acidemia (MMA) Establishing a molecular diagnosis for patients with MMA Identifying variants within genes known to be associated with MMA, allowing for predictive...
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...
Evaluation of pediatric bone marrow and peripheral blood specimens by fluorescence in situ hybridization (FISH) probe analysis for classic rearrangements and chromosomal copy number changes associated with acute myeloid leukemia (AML) in...
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,...
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...
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...
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...
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...
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...
CHRAF - Overview: Chromosome Analysis, Amniotic Fluid
Prenatal diagnosis of chromosome abnormalities, including aneuploidy (ie, trisomy or monosomy) and balanced rearrangements
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.
PEANT - Overview: Peanut, IgE with Reflex to Peanut Components, IgE, Serum
Evaluating patients with suspected peanut allergy Evaluating patients with possible peanut cross-reactivity
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...
MPSWB - Overview: Mucopolysaccharidosis, Blood
Supporting the biochemical diagnosis of mucopolysaccharidoses type I, II, III, IV, or VI Quantification of heparan sulfate, dermatan sulfate, and keratan sulfate in whole blood specimens
MCSMP - Overview: MayoComplete Sarcoma Mutation Panel, Next-Generation Sequencing, Tumor
Primarily for identifying mutations that help in the diagnosis of specific soft tissue and bone tumors (sarcoma) Secondarily for identifying mutations that have therapeutic or prognostic significance Assessing microsatellite instability...
MCMLN - Overview: MayoComplete Melanoma Panel, Next-Generation Sequencing, Tumor
Determining if patients will respond to targeted therapy Assessing microsatellite instability for immunotherapy decisions
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...
DMDZ - Overview: DMD Gene, Full Gene Analysis, Varies
Establishing a molecular diagnosis for patients with Duchenne muscular dystrophy and Becker muscular dystrophy Identifying variants within DMD known to be associated with Duchenne muscular dystrophy or Becker muscular dystrophy, allowing...
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...
FIXCF - Overview: Immunofixation, CSF
Immunofixation, CSF
FCDU1 - Overview: Opiates, Umbilical Cord Tissue
Opiates, Umbilical Cord Tissue
FDIRU - Overview: Diuretic Screen, Urine
Diuretic Screen, Urine
FMACR - Overview: Macroamylase
Macroamylase
FSFM - Overview: Soluble Fibrin Monomer
Soluble Fibrin Monomer
SAFB - Overview: Acid-Fast Smear for Mycobacterium, Varies
Detection of acid-fast bacilli in clinical samples
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