Test Catalog Search Results
Suggested for -nE:
Test FNFAS is obsolete. Please see the notice for more details.
IEICP - Overview: Inborn Errors of Immunity Comprehensive Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal history of an inborn error of immunity (IEI) Establishing a diagnosis of an IEI associated with known causal genes Identifying variants within genes known to be...
ASMW - Overview: Acid Sphingomyelinase, Leukocytes
Investigation of possible diagnosis of Niemann-Pick disease types A and B This test is not recommended for carrier detection because of the wide range of enzymatic activities observed in carriers and noncarriers.
GAAW - Overview: Acid Alpha-Glucosidase, Leukocytes
Diagnosis of Pompe disease
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...
Identification of individuals who may be at risk for aminoglycoside-induced hearing loss (AIHL) Establishing a diagnosis of late-onset sensorineural hearing loss associated with aminoglycoside exposure Identifying mitochondrial variants...
IDUAW - Overview: Alpha-L-Iduronidase, Leukocytes
Diagnosis of mucopolysaccharidosis I, Hurler, Scheie, and Hurler-Scheie syndromes in leukocytes This test is not useful for determining carrier status.
FMTT - Overview: Familial Variant, Targeted Testing, Varies
Diagnostic or predictive testing for specific conditions when a DNA variant of interest has been previously identified in a family member and follow-up testing for this specific variant in other family members is desired Carrier screening...
TALMF - Overview: T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Specified FISH, Varies
Detecting recurrent common chromosome abnormalities associated with T-cell acute lymphoblastic leukemia/lymphoma (T-ALL) using client-specified probe set(s) An adjunct to conventional chromosome studies in patients with T-ALL Evaluating...
APOL1 - Overview: APOL1 Genotype, Varies
Determining an individual's APOL1 genotype This test is not useful for clinical management of individuals with APOL1 risk genotypes. This test alone is not useful for determining eligibility for donation or receipt of kidney...
APGH - Overview: Alpha-Subunit Pituitary Tumor Marker, Serum
Adjunct in the diagnosis of pituitary tumors As part of the follow-up of treated pituitary tumor patients Differential diagnosis of thyrotropin-secreting pituitary tumor versus thyroid hormone resistance Differential diagnosis of...
HCYSS - Overview: Homocysteine, Total, Serum
An aid for screening patients suspected of having an inherited disorder of methionine metabolism including: -Cystathionine beta-synthase deficiency (homocystinuria) -Methylenetetrahydrofolate reductase deficiency and its thermolabile...
I2SB - Overview: Iduronate-2-Sulfatase, Blood Spot
Supporting the biochemical diagnosis of mucopolysaccharidosis II (MPS II; Hunter syndrome) This test is not useful for determining carrier status for MPS II.
HEX4 - Overview: Glucotetrasaccharides, Random, Urine
Diagnosing Pompe disease, when used in conjunction with acid alpha-glucosidase enzyme activity assays and molecular genetic analysis of the GAA gene Monitoring patients with Pompe disease on enzyme replacement therapy May support the...
CASRG - Overview: CASR Full Gene Sequencing with Deletion/Duplication, Varies
Providing a genetic evaluation of individuals with a personal or family history of familial hypocalciuric hypercalcemia, neonatal severe primary hyperparathyroidism, or autosomal dominant hypoparathyroidism (autosomal dominant...
CDGGP - Overview: Congenital Disorders of Glycosylation Gene Panel, Varies
Establishing a molecular diagnosis for patients with congenital disorders of glycosylation Identifying variants within genes known to be associated with congenital disorders of glycosylation, allowing for predictive testing of at-risk...
CFSMN - Overview: Cystic Fibrosis and Spinal Muscular Atrophy Carrier Screen Panel, Varies
Reproductive risk refinement via carrier screening for individuals in the general population for cystic fibrosis (CF) and spinal muscular atrophy (SMA). Reproductive risk refinement via carrier screening for individuals with a family...
CARBR - Overview: Carbamazepine Hypersensitivity Pharmacogenomics, Varies
Identifying individuals with increased risk of carbamazepine- or oxcarbazepine-associated cutaneous adverse reactions
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...
GALCW - Overview: Galactocerebrosidase, Leukocytes
Diagnosis of Krabbe disease Follow-up testing for evaluation of an abnormal newborn screening result for Krabbe disease This test is not intended for carrier detection.
BIOTS - Overview: Biotinidase, Serum
Preferred test for the diagnosis of biotinidase deficiency Follow-up testing for certain organic acidurias
GPSYP - Overview: Glucopsychosine, Plasma
Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified Diagnosis and monitoring of patients with Gaucher disease using plasma specimens Supporting a biochemical diagnosis of Gaucher...
IDENT - Overview: Organism Referred for Identification, Aerobic Bacteria
Identification of pure isolates of aerobic bacteria Differentiation of members of the Staphylococcus aureus complex (S aureus, Staphylococcus argenteus, Staphylococcus singaporensis, and Staphylococcus roterodami)
LGBBS - Overview: Globotriaosylsphingosine, Blood Spot
Screening of patients with Fabry disease using dried blood spots when a serum specimen is not available This test should not be used for newborn screening followup.
LGBWB - Overview: Globotriaosylsphingosine, Blood
Screening of patients with Fabry disease when a serum specimen is not available This test should not be used for newborn screening followup.
SOMAT - Overview: Somatostatin Immunostain, Technical Component Only
Aids in the characterization of pancreatic islet cell tumors or other neuroendocrine tumors
VITB2 - Overview: Riboflavin (Vitamin B2), Plasma
Evaluation of individuals who present the signs of ariboflavinosis
BOAC - Overview: Boron, Serum/Plasma
Boron, Serum/Plasma
ZW293 - Overview: Miscellaneous UPMC Molecular and Genomic Pathology
Miscellaneous UPMC Molecular and Genomic Pathology
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...
NHEM - Overview: Hereditary Erythrocytosis Focused Gene Panel, Next-Generation Sequencing, Varies
Focused evaluation of an individual with JAK2-V617F negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, hemoglobin, or hematocrit; however, a comprehensive panel NHEP / Hereditary Erythrocytosis...
PSYR - Overview: Psychosine, Whole Blood
Aiding in the biochemical diagnosis of Krabbe disease using whole blood specimens Follow-up of individuals affected with Krabbe disease Follow-up testing after an abnormal newborn screening result for Krabbe disease Monitoring of...
PSYCF - Overview: Psychosine, Spinal Fluid
Aiding in the biochemical diagnosis of Krabbe disease using cerebrospinal fluid specimens Follow-up of individuals affected with Krabbe disease Follow-up testing after an abnormal newborn screening result for Krabbe disease Monitoring...
POXP - Overview: Fatty Acid Profile, Peroxisomal (C22-C26), Plasma
Evaluating patients with possible peroxisomal disorders, including peroxisomal biogenesis disorders, X-linked adrenoleukodystrophy, and Refsum disease using plasma specimens Aiding in the assessment of peroxisomal function
POX - Overview: Fatty Acid Profile, Peroxisomal (C22-C26), Serum
Evaluating patients with possible peroxisomal disorders, single-enzyme defects of peroxisomal metabolism, such as X-linked adrenoleukodystrophy or peroxisomal biogenesis disorders (Zellweger syndrome spectrum) using serum specimens Aiding...
BTWGS - Overview: Bacterial Typing, Whole Genome Sequencing, Varies
Aiding in the investigation of a potential outbreak by a single bacterial species May assist in identification of recurrent infection in an individual patient
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.
EPC2 - Overview: Epilepsy, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid
Investigating new onset cryptogenic epilepsy with incomplete seizure control and duration of fewer than 2 years using spinal fluid specimens Investigating new onset cryptogenic epilepsy plus 1 or more of the following...
CSFP - Overview: Carrier Screen, Focused Panel, Varies
Expanded carrier screening for reproductive risk assessment purposes This test is not useful for clinical diagnosis of an affected individual.
PCPRO - Overview: Plasma Cell DNA Content and Proliferation, Bone Marrow
Establishing a diagnosis of a plasma cell proliferative disorder Providing prognostic information for newly diagnosed multiple myeloma and other plasma cell proliferative disorders Assessing response to therapy and detecting disease...
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...
Risk stratification of patients with treated multiple myeloma, which can assist in determining treatment and management decisions with reflex to measurable residual disease assessment for more sensitive analysis Risk stratification of...
Risk stratification of patients with treated multiple myeloma, which can assist in determining treatment and management decisions Risk stratification of patients with newly diagnosed multiple myeloma
SCN5A - Overview: Brugada Syndrome, SCN5A Full Gene Analysis, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Brugada syndrome Establishing a diagnosis of Brugada syndrome
2D6Q - Overview: Cytochrome P450 2D6 Comprehensive Cascade, Varies
Providing information relevant to tamoxifen, codeine, and tramadol, as well as other medications metabolized by cytochrome P450 2D6 Determining the exact genotype when other methods fail to generate this information or if...
CYSGP - Overview: Cystinuria Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of cystinuria Establishing a molecular diagnosis for patients with cystinuria Identifying variants within genes known to be associated with cystinuria, allowing for predictive testing...
HBOCZ - Overview: BRCA1/BRCA2 Genes, Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of hereditary breast and ovarian cancer (HBOC) syndrome Establishing a diagnosis of HBOC syndrome allowing for targeted cancer surveillance based on associated risks...
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
2C9QT - Overview: Cytochrome P450 2C9 Genotype, Varies
Identifying individuals who may be at risk for altered metabolism of drugs that are modified by cytochrome P450 2C9
MPS4W - Overview: Mucopolysaccharidosis IV Enzyme Panel, Leukocytes
Supporting the biochemical diagnosis of mucopolysaccharidosis type IVA and IVB in whole blood specimens This test is not useful for carrier detection.
FXCH - Overview: Coagulation Factor X Chromogenic Activity Assay, Plasma
Monitoring warfarin anticoagulant therapy, especially in patients whose plasma contains lupus anticoagulants that interfere with baseline prothrombin time/international normalized ratio and in patients receiving the drug Argatroban who are...