Test Catalog Search Results
Second-tier testing of newborns with an abnormal primary screening result for mucopolysaccharidosis type II (MPS II, decreased iduronate-2-sulfatase) Follow-up testing for evaluation of an abnormal newborn screening result for MPS II This...
Second-tier testing of newborns with an abnormal primary screening result for mucopolysaccharidosis type I (MPS I) (decreased alpha-L-iduronidase activity) Follow-up testing for evaluation of an abnormal newborn screening result for MPS...
CTNBT - Overview: B-Catenin Mutation Analysis, Next-Generation Sequencing, Tumor
Distinguishing desmoid-type fibromatosis from other soft tissue tumors by assessing gene targets within the beta-catenin (CTNNB1) gene
TSI - Overview: Thyroid-Stimulating Immunoglobulin, Serum
Second-order testing for autoimmune thyroid disease, including: -Differential diagnosis of etiology of thyrotoxicosis in patients with ambiguous clinical signs or contraindicated (eg, pregnant or breast-feeding) or indeterminate thyroid...
An aid in the diagnosis of alveolar soft-part sarcoma or renal cell carcinoma variant when used in conjunction with an anatomic pathology consultation
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
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.
BTK - Overview: Bruton Tyrosine Kinase, Protein Expression, Flow Cytometry, Blood
Preliminary screening for X-linked agammaglobulinemia, primarily in male patients (<65 years) or female carriers (child-bearing age: <45 years)
FABRZ - Overview: Fabry Disease, Full Gene Analysis, Varies
Confirmation of a diagnosis of classic or variant Fabry disease in affected males with reduced alpha- galactosidase A enzyme activity Carrier or diagnostic testing for asymptomatic or symptomatic females, respectively
TERTD - Overview: TERT Promoter Mutation Analysis, Droplet Digital PCR, Tumor
Identifying specific mutations within the TERT promoter that assist in tumor diagnosis/classification
VASC - Overview: Antineutrophil Cytoplasmic Antibodies Vasculitis Panel, Serum
Evaluating patients with clinical features of anti-neutrophil cytoplasmic antibody-associated vasculitis, specifically granulomatosis with polyangiitis, microscopic polyangiitis, and eosinophilic granulomatosis with polyangiitis
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.
PT217 - Overview: Phospho-Tau 217, Plasma
Evaluation of individuals, aged 50 years and older, presenting with cognitive impairment who are being assessed for Alzheimer disease and other causes of cognitive decline This test is not intended as a screening test for Alzheimer...
ENAE - Overview: Antibody to Extractable Nuclear Antigen Evaluation, Serum
Evaluating patients with clinical features suggestive of antinuclear antibody (ANA) associated connective tissue disease. May also be indicated in patients who test negative for ANA and have features of Sjogren syndrome and idiopathic...
PVLE - Overview: Paraneoplastic Vision Loss Evaluation, Serum
Evaluating patients with rapidly progressive vision loss where a paraneoplastic cause for vision loss (retinopathy or optic neuritis with other findings [eg, retinitis] is suspected) Evaluating patients with small-cell carcinoma who...
ANPAT - Overview: Anatomic Pathology Consultation, Wet Tissue
Obtaining a rapid, expert opinion on unprocessed specimens (lung tissue for immunofluorescence, cardiac biopsies, enucleated eye specimens, iris, conjunctiva, cornea, and other small eye biopsies) referred by a pathologist This test is not...
APOEG - Overview: Apolipoprotein E Genotyping, Blood
Determining the specific apolipoprotein E (APOE) genotypes in individuals with type III hyperlipoproteinemia Determining the specific APOE genotypes that may increase risk for amyloid related imaging abnormalities in individuals being...
WBSEQ - Overview: Beta Globin Gene Sequencing, Varies
Diagnosis of beta thalassemia intermedia or major Identification of a specific beta thalassemia sequence variant (ie, unusually severe beta thalassemia trait) Evaluation of an abnormal hemoglobin electrophoresis identifying a rare...
Evaluating patients with chronic myelogenous leukemia and Philadelphia chromosome positive B-cell acute lymphoblastic leukemia receiving tyrosine kinase inhibitor (TKI) therapy, who are apparently failing treatment Preferred initial test...
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
GB2GP - Overview: Beta-2 Glycoprotein 1 Antibodies, IgG, Serum
Evaluating patients with suspected antiphospholipid syndrome by identification of beta-2 glycoprotein 1 IgG antibodies First-line test when antiphospholipid syndrome is strongly suspected, in conjunction with cardiolipin antibodies (IgG...
MB2GP - Overview: Beta-2 Glycoprotein 1 Antibodies, IgM, Serum
Evaluating patients with suspected antiphospholipid syndrome by identification of beta-2 glycoprotein 1 IgM antibodies First-line test when antiphospholipid syndrome is strongly suspected in conjunction with cardiolipin antibodies (IgG...
BAMRP - Overview: Bile Acids Malabsorption Panel, Serum and Feces
Aiding in the evaluation of patients suspected of having chronic diarrhea symptoms due to bile acid malabsorption
ALDG2 - Overview: Autoimmune Liver Disease Panel, Serum
Evaluating patients with suspected autoimmune liver disease, specifically autoimmune hepatitis or primary biliary cholangitis Evaluating patients with liver disease of unknown etiology
ARBOP - Overview: Arbovirus Antibody Panel, IgG and IgM, Serum
Aiding the diagnosis of arboviral encephalitis (California [LaCrosse], St. Louis, Eastern equine, and Western equine encephalitis)
AAPD - Overview: Amino Acids, Quantitative, Random, Urine
Evaluating patients with possible inborn errors of metabolism using random urine specimens May aid in evaluation of endocrine disorders, liver diseases, muscle diseases, neoplastic diseases, neurological disorders, nutritional...
ACARP - Overview: Acanthamoeba species Molecular Detection, PCR, Ocular
Aids in the diagnosis of amebic keratitis in conjunction with clinical findings
ARSAB - Overview: Arylsulfatase A, Blood Spot
Second-tier newborn screening test for metachromatic leukodystrophy (MLD) when sulfatides are elevated Enzymatic test for detection of arylsulfatase A deficiency This test is not suitable for carrier detection.
AACSF - Overview: Amino Acids, Quantitative, Spinal Fluid
Evaluating patients with possible inborn errors of amino acid metabolism, particularly nonketotic hyperglycinemia (glycine encephalopathy) and serine biosynthesis defects, especially when used in conjunction with concomitantly collected...
APCRR - Overview: Activated Protein C Resistance V, with Reflex to Factor V Leiden, Blood and Plasma
Evaluating patients with incident or recurrent venous thromboembolism (VTE) Evaluating individuals with a family history of VTE
BRAZR - Overview: Brazil Nut, IgE with Reflex to Brazil Nut Component, IgE, Serum
Evaluation of patients with suspected Brazil nut allergy
TCD4 - Overview: CD4 Count for Immune Monitoring, Blood
Serial monitoring of CD4 T cell count in patients who are HIV-positive Follow-up and diagnostic evaluation of primary cellular immunodeficiencies, including severe combined immunodeficiency T-cell immune monitoring following...
F8INV - Overview: Hemophilia A F8 Gene, Intron 1 and 22 Inversion Mutation Analysis, Whole Blood
First-tier molecular testing for male patients affected with severe hemophilia A when a variant has not been identified in the family Determining hemophilia A carrier status for at-risk female patients, ie, individuals with a family...
Simultaneous detection of influenza A virus, influenza B virus, and respiratory syncytial virus in upper or lower respiratory tract specimens from individuals with flu-like illnesses
INHAB - Overview: Inhibin A and B, Tumor Marker, Serum
Aiding in the diagnosis of granulosa cell tumors and mucinous epithelial ovarian tumors Monitoring of patients with granulosa cell tumors and epithelial mucinous-type tumors of the ovary known to secrete inhibin A or overexpress inhibin B
MPS1Z - Overview: Hurler Syndrome, Full Gene Analysis, Varies
Identifying variants within the IDUA gene Confirmation of a diagnosis of mucopolysaccharidosis type I (MPS-I) Carrier testing when there is a family history of MPS- I, but disease-causing variants have not been previously identified
IFG23 - Overview: Intact Fibroblast Growth Factor 23, Serum
Diagnosing and monitoring tumor induced osteomalacia Diagnosing X-linked hypophosphatemia or autosomal dominant hypophosphatemic rickets Diagnosing familial tumoral calcinosis with hyperphosphatemia
HCVG - Overview: Hepatitis C Virus Genotype, Serum
Determining hepatitis C virus (HCV) genotype (1 to 5) to guide antiviral therapy in patients with chronic hepatitis C Differentiating between HCV subtypes 1a and 1b This assay should not be used as a screening test for HCV infection. It...
Detection of acute hepatitis C virus (HCV) infection before the appearance of HCV antibodies in serum (ie, <2 months from exposure) Detection and confirmation of chronic HCV infection Quantification of HCV RNA in serum of patients with...
F822B - Overview: Hemophilia A F8 Gene, Intron 22 Inversion Known Mutation, Whole Blood
First-tier molecular testing for male patients affected with severe hemophilia A, when a familial intron 22 inversion has been previously identified Determining hemophilia A carrier status for at-risk female patients, ie, individuals with...
QHV6C - Overview: Human Herpesvirus-6 A and B DNA Detection and Quantification, PCR, Spinal Fluid
As an adjunct in the rapid diagnosis of human herpesvirus-6 infection using cerebrospinal fluid specimens This test should not be used to screen asymptomatic patients.
F81B - Overview: Hemophilia A F8 Gene, Intron 1 Inversion Known Mutation, Whole Blood
First-tier molecular testing for male patients affected with severe hemophilia A, when a familial intron 1 inversion has been previously identified Determining hemophilia A carrier status for at-risk female patients, ie, individuals with...
KCSF - Overview: Immunoglobulin Kappa Free Light Chain, Spinal Fluid
Diagnosing multiple sclerosis and other demyelinating conditions Evaluating patients who present with a clinically isolated syndrome in which the patient reports symptoms (headaches, optic neuritis, fatigue, and many others, depending on...
Evaluation of pediatric blood specimens for chromosomal abnormalities associated with hematologic malignancies for diagnostic and prognostic purposes in patients being considered for enrollment in Children's Oncology Group clinical trials...
CHIMS - Overview: Chimerism Transplant Sorted Cells, Varies
Determining the relative amounts of donor and recipient cells in a specimen in sorted cell fractions An indicator of bone marrow transplant success
CPAVP - Overview: Copeptin proAVP, Plasma
Investigating the differential diagnosis for patients with water balance disorders, including diabetes insipidus, in conjunction with osmolality and hydration status May aid in the evaluation of cardiovascular disease in conjunction with...
CHRCV - Overview: Chromosome Analysis, Chorionic Villus Sampling
Prenatal diagnosis of chromosome abnormalities, including aneuploidy (ie, trisomy or monosomy) and balanced rearrangements This test is not appropriate as a first-tier test for detecting gains or losses of chromosomal material in...
CD20B - Overview: CD20 on B Cells, Blood
Evaluation of patients with a suspected CD19 deficiency (humoral immunodeficiency) Confirming complete absence of B cells in suspected primary humoral immunodeficiencies using both CD19 and CD20 markers Assessing therapeutic B-cell...
CRDPU - Overview: Creatine Disorders Panel, Random, Urine
Evaluating patients with a clinical suspicion of arginine:glycine amidinotransferase deficiency, guanidinoacetate methyltransferase deficiency, and creatine transporter deficiency
H2MT - Overview: HER2 Amplification, Miscellaneous Tumor, FISH, Tissue
Guiding cancer therapy, as patients with HER2 amplification may be candidates for therapies that target the human epidermal growth factor receptor 2 (HER2) protein (eg, trastuzumab [Herceptin], pertuzumab) Confirming the presence of HER2...