Test Catalog Search Results

ABOPC - Overview: Arbovirus Antibody Panel, IgG and IgM, Spinal Fluid

Aiding in the diagnosis of arboviral encephalitis (California [LaCrosse], St Louis, Eastern equine, and Western equine encephalitis)

ASU24 - Overview: Arsenic with Reflex, 24 Hour, Urine

Preferred screening test for detection of arsenic exposure using 24-hour urine specimens

8INHE - Overview: Factor VIII Inhibitor Evaluation, Plasma

Detecting the presence and titer of a specific factor inhibitor directed against coagulation factor VIII This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a nonspecific circulating...

UBKQN - Overview: BK Virus DNA Detection and Quantification, Random, Urine

Detection and serial monitoring of BK virus (BKV)-associated nephropathy in kidney transplant recipients using random urine specimens Detection and serial monitoring of BKV-associated hemorrhagic cystitis in organ transplant recipients

CINP - Overview: Cortisol, Mass Spectrometry, Serum

Second-order testing when cortisol measurement by immunoassay (eg, CORT / Cortisol, Serum) gives results that are not consistent with clinical symptoms, or if patients are known to, or suspected of, taking exogenous synthetic steroids...

EPOR - Overview: Erythropoietin Receptor (EPOR) Gene, Exon 8 Sequencing, Whole Blood

Assessing EPOR in the evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit

HBVQN - Overview: Hepatitis B Virus (HBV) DNA Detection and Quantification by Real-Time PCR, Serum

Detection and quantification of hepatitis B virus (HBV) DNA in serum of patients with chronic HBV infection (ie, hepatitis B surface antigen-positive) Monitoring disease progression in chronic HBV infection Monitoring response to anti-HBV...

HIF2A - Overview: Hypoxia-Inducible Factor Alpha (EPAS1/HIF2A) Gene, Exons 9 and 12 Sequencing, Whole Blood

Assessing HIF2A/EPAS1 in the evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit

HBCRQ - Overview: Hepatitis B Virus Core-Related Antigen, Quantitative, Serum

Monitoring of response to antiviral therapy in individuals with chronic hepatitis B who are negative for hepatitis B e antigen (HBeAg), positive for hepatitis B e antibody, and undetectable or low hepatitis B virus DNA levels (eg, <500...

GALT - Overview: Galactose-1-Phosphate Uridyltransferase, Blood

Diagnosis of galactose-1-phosphate uridyltransferase deficiency, the most common cause of galactosemia Confirmation of abnormal state newborn screening results

HTLVI - Overview: Human T-Cell Lymphotropic Virus Types I and II Antibody Screen with Confirmation, Serum

Qualitative detection of human T-cell lymphotropic virus types I and II (HTLV-I and HTLV-II)-specific antibodies with confirmation and differentiation between HTLV-I and HTLV-II infection This test should not be used to screen blood, human...

IDHQ - Overview: IDH1 (R132) and IDH2 (R140 and R172) Quantitative Detection, Droplet Digital PCR, Varies

Detecting IDH1 R132 and IDH2 R140 and R172 mutations in acute myeloid leukemia patients at the time of diagnosis to guide targeted therapy Monitoring minimal residual disease during the clinical and therapeutic course

IGA - Overview: Immunoglobulin A (IgA), Serum

Detection or monitoring of IgA monoclonal gammopathies and IgA-related immune deficiencies

GPSYW - Overview: Glucopsychosine, Blood

Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified Diagnosis and monitoring of patients with Gaucher disease using whole blood specimens Supporting the biochemical diagnosis of...

HYOX - Overview: Hyperoxaluria Panel, Random, Urine

Distinguishing between primary and secondary hyperoxaluria Distinguishing between primary hyperoxaluria types 1, 2, and 3

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...

NMH24 - Overview: N-Methylhistamine, 24 Hour, Urine

Screening for and monitoring of mastocytosis and disorders of systemic mast-cell activation, such as anaphylaxis and other forms of severe systemic allergic reactions using 24-hour urine collection specimens Monitoring therapeutic...

PERA - Overview: Preeclampsia sFlt-1/PIGF (Soluble fms-Like Tyrosine Kinase 1/ Placental Growth Factor) Ratio, Serum

Aiding in risk assessment of patients with clinical signs and symptoms consistent with development of preeclampsia with severe features This test is not intended for making a diagnosis of preeclampsia or preeclampsia with severe...

SFX - Overview: Protein S Activity, Plasma

Second-order testing for diagnosis of congenital or acquired protein S deficiency, ie, as an adjunct to initial testing based on results of protein S antigen assay (free protein S antigen, with or without total protein S antigen assay)...

PHD2 - Overview: Prolyl Hydroxylase Domain-2 (PHD2/EGLN1) Gene Sequencing, Whole Blood

Assessing PHD2/EGLN1 in the evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit

CFX - Overview: Protein C Activity, Plasma

As an initial test for evaluating patients suspected of having congenital protein C deficiency, including those with personal or family histories of thrombotic events Detecting and confirming congenital type I and type II protein C...

COVSQ - Overview: Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2), Spike Antibody, Semi-Quantitative, Serum

Aiding in the identification of individuals with an adaptive immune response to SARS-CoV-2, indicating prior infection or vaccination

TXMGP - Overview: Toxoplasma gondii Antibody, IgM and IgG, Serum

Determining whether a patient has had previous exposure to or recent infection with Toxoplasma gondii IgG is not useful for diagnosing infection in infants younger than 6 months of age. IgG antibodies in this age group usually are the...

B12 - Overview: Vitamin B12 Assay, Serum

Investigation of macrocytic anemia Workup of deficiencies seen in megaloblastic anemias

ALPSG - Overview: Autoimmune Lymphoproliferative Syndrome (ALPS) Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of autoimmune lymphoproliferative syndrome (ALPS) or related disorders Establishing a diagnosis of ALPS or a related disorder, allowing...

CFTRN - Overview: Cystic Fibrosis Transmembrane Conductance Regulator, CFTR, Full Gene Analysis, Varies

Follow-up testing to identify variants in individuals with a clinical diagnosis of cystic fibrosis (CF) Identifying genetic variants in individuals with atypical presentations of CF (eg, congenital bilateral absence of the vas deferens or...

GNF7 - Overview: Factor VII Deficiency, F7 Gene, Next-Generation Sequencing, Varies

Evaluating factor VII deficiency (FVIID) in patients with a personal or family history suggestive of FVIID Confirming an FVIID diagnosis with the identification of known or suspected disease-causing alterations in the F7 gene...

CAORG - Overview: Comprehensive Marfan, Loeys-Dietz, Ehlers-Danlos, and Aortopathy Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary aortic disease Establishing a diagnosis for a variety of hereditary conditions involving aortic disease or overlapping clinical...

GNF11 - Overview: Hemophilia C (Factor XI Deficiency), F11 Gene, Next-Generation Sequencing, Varies

Evaluating factor XI deficiency (FXID) in patients with a personal or family history suggestive of FXID Confirming an FXID diagnosis with the identification of known or suspected disease-causing alterations in the F11 gene Determining...

GNANG - Overview: Hereditary Angioedema Focused Gene Panel, Next-Generation Sequencing, Varies

Evaluating hereditary angioedema (HAE) with normal C1 inhibitor (C1INH) in patients with a suggestive personal or family history Confirming a diagnosis of HAE with normal C1INH with the identification of a known or suspected...

IMMAU - Overview: Inborn Errors of Immunity with Immune Dysregulation and Autoimmunity Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inborn error of immunity (IEI) associated with immune dysregulation or autoimmunity Establishing a diagnosis of an IEI, allowing...

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 Providing a focused genetic evaluation for patients with a...

AFTDP - Overview: Inherited Frontotemporal Dementia and Amyotrophic Lateral Sclerosis Gene Panel, Varies

Establishing a molecular diagnosis for patients with frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) Identifying variants within genes known to be associated with FTD and/or ALS, allowing for predictive testing of...

GID2 - Overview: Gastrointestinal Dysmotility, Autoimmune/Paraneoplastic Evaluation, Serum

Investigating unexplained weight loss, early satiety, anorexia, nausea, vomiting, constipation, or diarrhea in a patient with a past or family history of cancer or autoimmunity Directing a focused search for cancer Investigating...

GNMY9 - Overview: MYH9-Related Disorders, MYH9 Gene, Next-Generation Sequencing, Varies

Evaluating MYH9-related disorders, including May-Hegglin disorder/anomaly and Sebastian syndrome, in patients with a personal or family history suggestive of an MYH9-related disorder Diagnosing MYH9-related disorders, including May-Hegglin...

PSYQP - Overview: Psychotropic Pharmacogenomics Gene Panel, Varies

Individualizing selection and dosage of medications prescribed for treatment of depression and other psychiatric disorders based on genetic variation Identifying genetic variation in genes known to be associated with response and/or risk...

PMAOG - Overview: Postmortem Aortopathy Gene Panel, Tissue

Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death attributed to thoracic aortic dissection or with a personal or family history suggestive of Marfan syndrome, Loeys-Dietz syndrome, thoracic aortic...

OIBFG - Overview: Osteogenesis Imperfecta and Bone Fragility Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive osteogenesis imperfecta and other hereditary conditions associated with bone fragility

SCCNP - Overview: Severe Congenital and Cyclic Neutropenia Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of severe congenital neutropenia and/or cyclic neutropenia Establishing a diagnosis of an inherited congenital neutropenia and, in some cases,...

THEV1 - Overview: Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum

Evaluation of microcytosis Extensive and economical diagnosis and classification of hemoglobinopathies or thalassemia, including complex disorders Diagnosis of hereditary persistence of hemoglobin

TELDP - Overview: Telomere Biology Disorders Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of a telomere biology disorder Establishing a diagnosis of a telomere biology disorder, allowing for appropriate management and...

STHPV - Overview: ThinPrep Screen with Human Papillomavirus (HPV) Reflex, Varies

Managing and triaging of patients, aged 21 years or older, with abnormal Pap results Screening for detection of high-risk (HR) human papillomavirus (HPV) genotypes associated with the development of cervical cancer Aids in triaging...

DTHPV - Overview: ThinPrep Diagnostic with Human Papillomavirus (HPV) Reflex, Varies

Management and triage of patients aged 21 years or older with abnormal Papanicolaou (Pap) results Diagnostic test for detection of human papillomavirus (HPV) high-risk genotypes associated with the development of cervical cancer Results...

GNTHR - Overview: Thrombosis Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies

Evaluating hereditary thrombosis in patients with a personal or family history suggestive of a hereditary thrombosis disorder Confirming a hereditary thrombosis disorder diagnosis with the identification of a known or suspected pathogenic...