Test Catalog Search Results
Aiding in the evaluation of iron deficiency and iron overload diseases in combination with total iron binding capacity and percent saturation Assessment of acute iron poisoning
EXHR - Overview: Hematologic Disorders, DNA and RNA Extract and Hold, Varies
Reserving nucleic acids on any specimen for which molecular analysis requiring DNA or RNA may be necessary at a future date, ensuring that adequate material for testing is available
RHUT - Overview: Rheumatoid Factor, Serum
Diagnosis and prognosis of rheumatoid arthritis
MPA - Overview: Mycophenolic Acid, Serum
Monitoring therapy to ensure adequate blood levels and avoid over-immunosuppression
LEFLU - Overview: Leflunomide Metabolite (Teriflunomide), Serum
Therapeutic monitoring of patients actively taking leflunomide Assessment of elimination in patients requiring enhanced elimination of the drug
NICOS - Overview: Nicotine and Metabolites, Serum
Monitoring tobacco use in a clinical setting
PETH - Overview: Phosphatidylethanol Confirmation, Blood
Verifying abstinence or use of ethanol, especially in liver transplant candidates/patients
MFBNG - Overview: FBN1 Full Gene Sequencing with Deletion/Duplication, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Marfan syndrome and other FBN1-related conditions Establishing a diagnosis for Marfan syndrome and other FBN1-related conditions
ACRNS - Overview: Acylcarnitines, Quantitative, Serum
Diagnosis of fatty acid oxidation disorders and several organic acidurias using serum specimens Evaluating treatment during follow-up of patients with fatty acid beta-oxidation disorders and several organic acidurias
MFRGG - Overview: Marfan, Loeys-Dietz, and Aortopathy Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Marfan syndrome and related conditions Establishing a diagnosis for Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome,...
SCARA - Overview: Spinocerebellar Ataxia Type 1, 2, 3, 6, or 7, Repeat Expansion Analysis, Varies
Diagnostic or predictive testing when clinical symptoms or a family history are specific to only one type of spinocerebellar ataxia
TYRGP - Overview: Tyrosine Disorders Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of a tyrosine disorder Establishing a molecular diagnosis for patients with tyrosine disorders Identifying variants within genes known to be associated with tyrosine disorders,...
MPSBS - Overview: Mucopolysaccharidosis, Blood Spot
Supporting the biochemical diagnosis of mucopolysaccharidoses types I, II, III, IV, or VI Quantification of heparan sulfate, dermatan sulfate, and keratan sulfate in dried blood spot specimens
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
HEMP - Overview: Hereditary Erythrocytosis Mutations, Whole Blood
Definitive evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit This test is not intended for prenatal...
HMEP - Overview: Hemiplegic Migraine With or Without Epilepsy Gene Panel, Varies
Establishing a molecular diagnosis in individuals with hemiplegic migraine Identifying disease-causing variants within genes known to be associated with hemiplegic migraine, allowing for predictive testing of at-risk family members
3MGAP - Overview: 3-Methylglutaconic Aciduria Panel, Varies
Follow up for abnormal biochemical results suggestive of 3-methylglutaconic aciduria (3-MGA) Establishing a molecular diagnosis for patients with 3-MGA Identifying variants within genes known to be associated with3-MGA, allowing for...
Comprehensive evaluation of the GATA2 gene in patients with clinical or immunological symptoms suggestive of GATA-binding protein 2 (GATA2) deficiency Screening family members of patients with confirmed GATA2 deficiency
BRBPS - Overview: Broad Range Bacterial PCR and Sequencing, Varies
Detecting and identifying bacteria (including mycobacteria) from normally sterile sources, including synovial fluid; body fluids such as pleural, peritoneal, and pericardial fluids, cerebrospinal fluid; and both fresh and formalin-fixed...
PANCP - Overview: Hereditary Pancreatic Cancer Panel, Varies
Evaluating patients with a personal or family history suggestive of a hereditary pancreatic cancer syndrome Establishing a diagnosis of a hereditary pancreatic cancer syndrome, allowing for targeted cancer surveillance based on associated...
H2BR - Overview: HER2 Amplification Associated with Breast Cancer, FISH, Tissue
A predictive marker for patients with both node-positive or node-negative primary and metastatic breast cancer Patients with HER2 amplification that may be candidates for therapies targeting the human epidermal growth factor receptor 2...
MCP2Z - Overview: MECP2 Gene, Full Gene Analysis, Varies
Establishing a molecular diagnosis in individuals with features of Rett syndrome and MECP2-related disorders Identifying pathogenic variants within the MECP2 gene known to be associated with Rett syndrome and MECP2-related disorders,...
PWAS - Overview: Prader-Willi/Angelman Syndrome, Molecular Analysis, Varies
Confirmation of diagnosis in patients suspected of having either Prader-Willi syndrome (PWS) or Angelman syndrome (AS) based on clinical assessment or previous laboratory analysis Prenatal diagnosis in families at risk for PWS or AS
TBBS - Overview: Quantitative Lymphocyte Subsets: T, B, and Natural Killer (NK) Cells, Blood
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 following immunosuppressive therapy...
AUTOG - Overview: Autoinflammatory Disorders Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited autoinflammatory disorder Establishing a diagnosis of a monogenic autoinflammatory disorder, allowing for appropriate...
BLBLF - Overview: B-Cell Lymphoblastic Leukemia/Lymphoma, FISH, Tissue
Detecting, at diagnosis, recurrent common chromosome abnormalities associated with B-cell acute lymphoblastic leukemia/lymphoma (B-ALL/LBL) and Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL) in paraffin-embedded...
WESPR - Overview: Panel to Whole Exome Sequencing Reflex Test, Varies
Serving as a second-tier test for patients in whom previous genetic testing was negative or inconclusive Identifying causative variants in genes that were not included on panel testing which can allow for: -Better understanding of the...
GCTF - Overview: Germ Cell Tumor (GCT), Isochromosome 12p, FISH, Tissue
Supporting the diagnosis of germ cell tumors when used conjunction with an anatomic pathology consultation
A1ALC - Overview: Alpha-1-Antitrypsin Proteotype S/Z, LC-MS/MS, Serum
Identification of homozygous and heterozygous S and Z proteotypes of alpha-1-antitrypsin deficiency
MMLSG - Overview: Antimicrobial Susceptibility, Acid-Fast Bacilli, Slowly Growing, Varies
Determination of resistance of slowly growing mycobacteria to antimicrobial agents
BRAZX - Overview: Brazil Nut Component, IgE, Serum
Evaluation of patients with suspected Brazil nut allergy to component Ber e 1
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
SCAP - Overview: Spinocerebellar Ataxia Repeat Expansion Panel, Varies
Molecular confirmation of clinically suspected spinocerebellar ataxia when a specific subtype isn't suspected
OHPG - Overview: 17-Hydroxyprogesterone, Serum
Screening test for congenital adrenal hyperplasia (CAH), caused by either 11- or 21-hydroxylase deficiency, when used in combination with testing for cortisol and androstenedione As part of a battery of tests to evaluate women with...
21DOC - Overview: 21-Deoxycortisol, Serum
As an adjunct to measurement of 17-hydroxyprogesterone, androstenedione, and cortisol in the diagnosis of difficult cases of suspected 21-hydroxylase (CYP21A2) deficiency Identifying heterozygote CYP21A2 deficiency carriers As an adjunct...
NR4A3 - Overview: NR4A3 (9q22.33) Rearrangement, FISH, Tissue
Identifying NR4A3 gene rearrangements Supporting the diagnosis of extraskeletal myxoid chondrosarcoma or acinic cell carcinoma when used in conjunction with an anatomic pathology consultation
MP9W - Overview: Mucopolysaccharidoses, Nine-Enzyme Panel, Leukocytes
Supporting the biochemical diagnosis of mucopolysaccharidoses types II, IIIA, IIIB, IIIC, IIID, IVA, IVB, VI, and VII, and of multiple sulfatase deficiency This test is not useful for carrier detection.
EPCRB - Overview: Ehrlichia/Anaplasma, Molecular Detection, PCR, Blood
Evaluating patients suspected of acute anaplasmosis or ehrlichiosis This test should not be used for screening asymptomatic individuals.
AGAW - Overview: Alpha-Galactosidase, Leukocytes
Diagnosis of Fabry disease in male patients Verifying abnormal serum alpha-galactosidase results in male patients with a clinical presentation suggestive of Fabry disease This test is not useful for patients undergoing a work-up for a...
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
MPS2Z - Overview: Hunter Syndrome, Full Gene Analysis, Varies
Confirmation of a diagnosis of mucopolysaccharidosis type II (Hunter syndrome) Carrier testing when there is a family history of mucopolysaccharidosis type II (Hunter syndrome), but disease-causing variants have not been previously...
CASHR - Overview: Cashew, IgE with Reflex to Cashew Component, IgE, Serum
Evaluation of patients with suspected cashew allergy
P53CA - Overview: Hematologic Neoplasms, TP53 Somatic Mutation, DNA Sequencing Exons 4-9, Varies
Evaluating chronic lymphocytic leukemia patients at diagnosis or during disease course for the presence of TP53 gene variants indicating high risk of disease progression and adverse outcomes This test is not intended for the evaluation of...
GPSY - Overview: Glucopsychosine, Blood Spot
Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified Diagnosis and monitoring of patients with Gaucher disease using dried blood spot specimens Monitoring a patient's response to...
Screening cadaveric or hemolyzed serum specimens for hepatitis C virus (HCV) infection in asymptomatic individuals with or without risk factors for HCV infection Note: In accordance with National Coverage Determination guidance, this test...
PNBX - Overview: Peripheral Nerve Pathology Consultation
Evaluating diseases of the nerve and disorders that affect nerve function
RRPRS - Overview: Rapid Plasma Reagin Screen with Reflex to Titer, Serum
Aid for the diagnosis of infection with Treponema pallidum Rapid plasma reagin testing following a positive treponemal antibody test This test is not useful as a screening or confirmatory test for blood donor specimens.
CPR - Overview: C-Peptide, Serum
Diagnostic workup of hypoglycemia: -Diagnosis of factitious hypoglycemia due to surreptitious administration of insulin -Evaluation of possible insulinoma -Surrogate measure for the absence or presence of physiological suppressibility of...
TMSI - Overview: Microsatellite Instability, Tumor
Evaluation of tumor tissue to identify patients at high risk for having Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer Evaluation of tumor tissue for clinical decision-making purposes given the prognostic and...
HLHGP - Overview: Primary Hemophagocytic Lymphohistiocytosis Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of familial hemophagocytic lymphohistiocytosis (F-HLH) Establishing a diagnosis of F-HLH, allowing for appropriate management and...