Test Catalog Search Results
BRTP - Overview: Rapid Hereditary Breast Cancer Treatment Decision Panel, Varies
Establishing a diagnosis of a hereditary breast cancer syndrome allowing for surgical and management decision making Determining therapeutic eligibility with poly (adenosine diphosphate-ribose) polymerase inhibitors based on certain gene...
VIRID - Overview: Viral Susceptibility, Defects in Intrinsic and Innate Immunity, Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inborn error of immunity causing a hereditary form of severe viral susceptibility Establishing a diagnosis of hereditary form of...
AVWPR - Overview: von Willebrand Disease Profile, Plasma
Detection of deficiency or abnormality of von Willebrand factor (VWF) and related deficiency of factor VIII coagulant activity Subtyping von Willebrand disease (VWD) as type 1 (most common), type 2 variants (less common), or type 3...
FFPG - Overview: Fruit Panel IgG
Fruit Panel IgG
CU Index
FCLPF - Overview: Cathartic Laxatives Profile, Stool
Cathartic Laxatives Profile, Stool
HIPA - Overview: Hippuric Acid, Urine
Hippuric Acid, Urine
FHST - Overview: MVista Histoplasma Ag Quantitative EIA
MVista Histoplasma Ag Quantitative EIA
SMPB - Overview: Peripheral Blood Smear Review
Confirmation of red blood cell membrane morphology
FPROS - Overview: Prostaglandin D2 (PG D2), Random Urine
Prostaglandin D2 (PG D2), Random Urine
FRFIT - Overview: Rabies Antibody Endpoint
Rabies Antibody Endpoint
BCELL - Overview: B-Cell and Antibody Deficiency Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited primary B-cell disorder or humoral immunodeficiency Establishing a diagnosis of a primary B-cell disorder or humoral...
NEPHP - Overview: Comprehensive Nephrology Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary kidney disease Establishing a diagnosis for a variety of hereditary kidney conditions including focal segmental glomerulosclerosis,...
CYPZ - Overview: 21-Hydroxylase Gene, CYP21A2, Full Gene Analysis, Varies
Carrier screening and diagnosis of 21-hydroxylase deficient congenital adrenal hyperplasia (CAH) in individuals with a personal or family history of 21-hydroxylase deficiency, or as follow-up to positive CAH newborn screens and/or...
WGSR - Overview: Whole Genome Sequencing Reanalysis, Varies
Identifying a diagnosis or additional variants associated with the phenotype in patients who previously have had a negative or inconclusive whole genome sequencing test Reanalyzing whole genome sequencing data when a patient (proband)...
AGABS - Overview: Alpha-Galactosidase, Blood Spot
Diagnosis of Fabry disease in male patients using blood spot specimens Verifying abnormal serum alpha-galactosidase results in male patients with a clinical presentation suggestive of Fabry disease Follow-up to an abnormal newborn screen...
CARBR - Overview: Carbamazepine Hypersensitivity Pharmacogenomics, Varies
Identifying individuals with increased risk of carbamazepine- or oxcarbazepine-associated cutaneous adverse reactions
CMAP - Overview: Chromosomal Microarray, Prenatal, Amniotic Fluid/Chorionic Villus Sampling
Prenatal diagnosis of copy number changes (gains or losses) across the entire genome Determining the size, precise breakpoints, gene content, and any unappreciated complexity of abnormalities detected by other methods, such as conventional...
CORTC - Overview: Corticosterone, Serum
Diagnosis of suspected 11-hydroxylase deficiency, including the differential diagnosis of 11-beta-hydroxylase 1 (CYP11B1) versus 11-beta-hydroxylase 2 (CYP11B2) deficiency, and the diagnosis of glucocorticoid-responsive hyperaldosteronism...
EOSMF - Overview: Chronic Eosinophilia, Specified FISH, Varies
Detecting a neoplastic clone associated with the common chromosome abnormalities seen in patients with myeloid/lymphoid neoplasms with eosinophilia and gene rearrangement (including PDGFRA, PDGFRB, FGFR1, JAK2, and ABL1) using specified...
BHDZ - Overview: Birt-Hogg-Dube Syndrome, FLCN, Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of Birt-Hogg-Dube (BHD) syndrome Establishing a diagnosis of BHD syndrome allowing for targeted cancer surveillance based on associated risks Identifying variants within...
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...
HYPTG - Overview: Hypertriglyceridemia Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary forms of primary hypertriglyceridemia and related conditions.
KRABZ - Overview: Krabbe Disease, Full Gene Analysis and Large (30 kb) Deletion, Varies
Second-tier test for confirming a diagnosis of Krabbe disease Carrier testing for individuals with a family history of Krabbe disease in the absence of known sequence variants in the family
DMITO - Overview: Mitochondrial DNA Deletion Heteroplasmy, ddPCR, Varies
Assessing the heteroplasmy level of previously detected large mitochondrial DNA (mtDNA) deletions. Screening family members for previously detected large mtDNA deletions. This test is not recommended for first tier diagnostic testing...
IETG - Overview: Interference Evaluation Heterophile, Thyroglobulin Tumor Marker, Serum
Evaluation of suspected interference from heterophile antibodies causing a falsely elevated thyroglobulin result
MGLE - Overview: Myasthenia Gravis/Lambert-Eaton Myasthenic Syndrome Evaluation, Serum
Confirming the autoimmune basis of a defect in neuromuscular transmission (eg, myasthenia gravis [MG], Lambert-Eaton myasthenic syndrome [LEMS]) Distinguishing LEMS from autoimmune forms of MG Providing a quantitative autoantibody...
MGMR - Overview: Myasthenia Gravis Evaluation with Muscle-Specific Kinase (MuSK) Reflex, Serum
Diagnosing autoimmune myasthenia gravis (MG) in adults and children Distinguishing autoimmune from congenital MG in adults and children or other acquired forms of neuromuscular junction transmission disorders Establishing a quantitative...
NAGW - Overview: Hexosaminidase A and Total Hexosaminidase, Leukocytes
Carrier detection and diagnosis of Tay-Sachs disease Carrier detection and diagnosis of Sandhoff disease
NMS1 - Overview: Necrotizing Myopathy Evaluation, Serum
Evaluating patients with suspected necrotizing autoimmune myopathy
MSP3 - Overview: Multiple Sclerosis (MS) Cascade, Serum and Spinal Fluid
Diagnosing multiple sclerosis, especially helpful in patients with equivocal clinical or radiological findings
MPSER - Overview: Mucopolysaccharides Quantitative, Serum
Quantification of dermatan sulfate, heparan sulfate, and keratan sulfate in serum to support the biochemical diagnosis of mucopolysaccharidoses types I, II, III, IV, VI, or VII
NGSFX - Overview: Reanalysis of Acute Myeloid Leukemia 4- or 11- Gene Panels, Additional Genes
Comprehensive reanalysis of a larger set of genes/gene regions when a more targeted gene panel was previously performed in this laboratory Evaluation of known or suspected hematologic neoplasms, specifically of myeloid origin (eg, acute...
PMSBB - Overview: Postmortem Screening, Bile and Blood Spot
Postmortem evaluation of individuals at any age who died suddenly or unexpectedly; testing is particularly recommended under the following circumstances (risk factors): -Family history of sudden infant death syndrome or other sudden...
PATHC - Overview: Pathology Consultation
A subspecialty second opinion for a specific pathology question referred by a primary pathologist Note: A consultative opinion is not a full rendering of a primary diagnostic report (eg, multiple parts, margin status, CAP...
PMHLH - Overview: Postmortem Primary Hemophagocytic Lymphohistiocytosis (HLH) Gene Panel, Tissue
Providing a comprehensive postmortem genetic evaluation in the setting of a death attributed to primary hemophagocytic lymphohistiocytosis Identifying a disease-causing variant in the decedent, which may assist with risk assessment and...
PSY - Overview: Psychosine, Blood Spot
Aids in the biochemical detection of Krabbe disease and saposin A cofactor deficiency Second-tier testing or follow up testing after an abnormal newborn screening result in an infant for Krabbe disease This test is not capable of...
HTGR - Overview: Thyroglobulin, Tumor Marker Reflex, Serum
Reporting of accurate thyroglobulin results, depending on the antithyroglobulin antibodies status of the patient Accurate measurement of serum thyroglobulin in patients with known or suspected antithyroglobulin autoantibodies or possible...
SCCA - Overview: Squamous Cell Carcinoma Antigen, Serum
Aiding in the evaluation and monitoring of squamous cell carcinoma of the head and neck, lung, and cervix This test should not be used to screen for carcinoma or other disorders including those of the liver, lung, or skin.
SOD1Z - Overview: SOD1 Gene, Full Gene Analysis, Varies
Establishing a molecular diagnosis for patients with amyotrophic lateral sclerosis (ALS) Identifying variants within SOD1 known to be associated with ALS, allowing for predictive testing of at-risk family members
DOCS - Overview: 11-Deoxycorticosterone, Serum
Diagnosis of suspected 11-hydroxylase deficiency, including the differential diagnosis of 11-beta-hydroxylase 1 (CYP11B1) versus 11-beta-hydroxylase 2 (CYP11B2) deficiency Diagnosis of glucocorticoid-responsive...
BLWRF - Overview: Walnut-Food, IgE, with Reflex to Walnut-Food Components, IgE, Serum
Evaluation of patients with suspected walnut-food allergy
AFPSF - Overview: Alpha-Fetoprotein (AFP), Spinal Fluid
An adjunct in the diagnosis of central nervous system (CNS) germinomas and meningeal carcinomatosis Evaluating the presence of germ-cell tumors in the CNS, in conjunction with cerebrospinal fluid (CSF) beta-human chorionic gonadotropin...
ADAMS - Overview: ADAMTS13 Activity Assay, Plasma
Assisting with the diagnosis and monitoring of congenital, immune, or acquired thrombotic thrombocytopenic purpura
ALLOI - Overview: Allo-isoleucine, Blood Spot
Evaluation of newborn screening specimens that test positive for branched-chain amino acids elevations Follow-up of patients with maple syrup urine disease
A1AFS - Overview: Alpha-1-Antitrypsin Clearance, Feces and Serum
Diagnosing protein-losing enteropathies
ARSBW - Overview: Arylsulfatase B, Leukocytes
Supporting the biochemical diagnosis of mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) in whole blood specimens This test is not useful for carrier detection.
C5OHU - Overview: C5-OH Acylcarnitine, Quantitative, Random, Urine
Evaluation of patients with an abnormal newborn screen showing elevations of 3-hydroxyisovaleryl-/2-methyl-3-hydroxybutyryl-carnitine
CMVG - Overview: Cytomegalovirus (CMV) Antibodies, IgG, Serum
Determining whether a patient (especially transplant recipients and organ and blood donors) has had a recent infection or previous exposure to cytomegalovirus
C2 - Overview: C2 Complement, Functional, with Reflex, Serum
Investigation of a patient with a low (absent) hemolytic complement, with reflex testing to C3 and C4, if appropriate