NSRGG - Overview: Noonan Syndrome and Related Conditions Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Noonan syndrome, Noonan syndrome with multiple lentigines, Noonan syndrome with loose anagen hair, cardiofaciocutaneous syndrome, Costello syndrome,...

WBGDR - Overview: Beta-Globin Gene Cluster Deletion/Duplication, Blood

Determining the etiology of hereditary persistence of fetal hemoglobin (HPFH), delta-beta thalassemia, or other large deletions involving the beta-globin gene cluster Diagnosing less common causes of beta-thalassemia; these large...

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

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

GBAW - Overview: Beta-Glucosidase, Leukocytes

Diagnosis of Gaucher disease This test is not intended for carrier detection.

FOXOF - Overview: Alveolar Rhabdomyosarcoma (ARMS), 13q14 (FOXO1 or FKHR) Rearrangement, FISH, Tissue

Supporting the diagnosis of alveolar rhabdomyosarcomas when used in conjunction with an anatomic pathology consultation

HSMP - Overview: Hepatosplenomegaly Panel, Plasma

As a component to the initial evaluation of a patient presenting with hepatosplenomegaly, using plasma specimens This test is not useful for the identification of carriers. This test should not be used as a monitoring tool for patients...

HSMWB - Overview: Hepatosplenomegaly Panel, Blood

As a component of the initial evaluation of a patient presenting with hepatosplenomegaly This test is not useful for the identification of carriers. This test should not be used as a monitoring for patients with confirmed diagnoses.

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

IMTF - Overview: Inflammatory Myofibroblastic Tumors (IMT), 2p23 (ALK) Rearrangement, FISH, Tissue

Supporting the diagnosis of inflammatory myofibroblastic tumors when used conjunction with an anatomic pathology consultation

HGEMS - Overview: Hydroxyglutaric Acids, Glutaric Acid, Ethylmalonic Acid, and Methylsuccinic Acid, Serum

Evaluation of patients with an abnormal newborn screen showing elevations of glutarylcarnitine (C5-DC) using serum specimens Evaluation of patients with abnormal newborn screens showing elevations of C4- acylcarnitine to aid in the...

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...

CTBID - Overview: Culture Referred for Identification, Mycobacterium and Nocardia, Varies

Rapid identification to the species level for Mycobacterium species, Nocardia species, and other aerobic actinomycete genera and species from pure culture isolates

CIDP - Overview: Chronic Inflammatory Demyelinating Polyradiculoneuropathy/Nodopathy Evaluation, Serum

Evaluating for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and related demyelinating peripheral neuropathies

HBA1C - Overview: Hemoglobin A1c, Blood

Evaluating the long-term control of blood glucose concentrations in patients with diabetes Diagnosing diabetes Identifying patients at increased risk for diabetes (prediabetes) This assay is not useful in determining day-to-day glucose...

HCCDD - Overview: Hepatitis C Virus Antibody, Cadaveric or Hemolyzed Specimens, Symptomatic, Serum

Diagnosis of hepatitis C virus (HCV) infection in cadaveric or hemolyzed serum specimens from symptomatic patients with or without risk factors for HCV infection This test is not intended for screening blood, cell, or tissue donors. This...

HPCRP - Overview: Helicobacter pylori with Clarithromycin Resistance Prediction, Molecular Detection, PCR, Varies

Assessing pure isolates of Helicobacter pylori to predict clarithromycin resistance or susceptibility

HGEMP - Overview: Hydroxyglutaric Acids, Glutaric Acid, Ethylmalonic Acid, and Methylsuccinic Acid, Plasma

Evaluation of patients with an abnormal newborn screen showing elevations of glutarylcarnitine (C5-DC) using plasma specimens Evaluation of patients with abnormal newborn screens showing elevations of C4- acylcarnitine to aid in the...

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...

NADF - Overview: Newborn Aneuploidy Detection, FISH, Blood

Screening for chromosomal aneuploidies of chromosomes 13, 18, 21, X, and Y in newborn peripheral blood specimens

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...

OXNP - Overview: Oxysterols, Plasma

Investigating a possible diagnosis of Niemann-Pick disease types A, B, or C using plasma specimens Monitoring of individuals with Niemann-Pick type C disease This test is not useful for the identification of carriers.

NUT1F - Overview: NUTM1 (15q14) Rearrangement, FISH, Tissue

Identifying NUTM1 gene rearrangements in patients with nuclear protein in testis midline carcinoma to aid in confirming or excluding the diagnosis

PMMIL - Overview: Phosphomannomutase and Phosphomannose Isomerase, Leukocytes

Diagnosing congenital disorders of glycosylation Ia (phosphomannomutase-2 deficiency: PMM2-CDG) and Ib (phosphomannose isomerase deficiency: MPI-CDG) as measured in leukocytes Follow-up testing for patients with an abnormal type I CDG...

PDGF - Overview: PDGFB (22q13), Dermatofibrosarcoma Protuberans/Giant Cell Fibroblastoma, FISH, Tissue

Confirming the diagnosis of dermatofibrosarcoma protuberans (DFSP)/giant cell fibroblastoma (GCF) and excluding other spindle neoplasms that closely simulate the DFSP histology, including dermatofibroma (benign fibrous histiocytoma),...

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)...

PN10X - Overview: Pain Clinic Survey 10, Chain of Custody, Random, Urine

Detecting drug use involving amphetamines, barbiturates, benzodiazepines, cocaine, methadone, opiates, phencyclidine, and carboxy-tetrahydrocannabinol This chain-of-custody test is intended to be used in a setting where the test results...

DRVI4 - Overview: Dilute Russell's Viper Venom Time (DRVVT) Interpretation

Interpreting mixing and confirmation assays for lupus anticoagulants

LENT - Overview: Enterovirus, Molecular Detection, PCR, Varies

Aiding in diagnosing enterovirus infections This test should not be used to screen asymptomatic patients.

EWSF - Overview: Ewing Sarcoma, 22q12 (EWSR1) Rearrangement, FISH, Tissue

Detection of EWSR1 rearrangements irrespective of the EWSR1 fusion partner gene Supporting the diagnosis of many neoplasms including, but not limited to, Ewing sarcoma, extraskeletal myxoid chondrosarcoma, desmoplastic small round cell...

FGFR2 - Overview: FGFR2 (10q26.1) Rearrangement, FISH, Tissue

Providing prognostic information and guiding treatment for patients with cholangiocarcinomas and other tumor types including bladder, thyroid, oral cavity, and brain

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.

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...

KITQ - Overview: KIT p.Asp816Val Variant Analysis, Quantitative, Varies

Diagnosing systemic mastocytosis

MRSAP - Overview: Methicillin Resistant Staphylococcus aureus, PCR, Nasal

Rapid screening test for Staphylococcus aureus nasal carriage that, if positive, indicates whether the S aureus is methicillin susceptible or resistant This test should not be used to guide or monitor treatment for methicillin-resistant S...

MYCO - Overview: Mycoplasma pneumoniae Antibodies, IgG and IgM, Serum

Screening for recent or past exposure to Mycoplasma pneumoniae This test should not be used as a screening procedure for the general population.

DDITF - Overview: Myxoid/Round Cell Liposarcoma, 12q13 (DDIT3 or CHOP) Rearrangement, FISH, Tissue

Aiding in the diagnosis of myxoid/round cell liposarcoma by detecting a neoplastic clone associated with gene rearrangement involving the DDIT3 (CHOP) gene region at 12q13

MALP - Overview: Malabsorption Evaluation Panel, Feces

Evaluation of patients with suspected malabsorption, as suggested by chronic diarrhea, unexplained weight loss, or nutritional deficiencies Differentiation between causes of malabsorption, specifically inflammatory conditions, pancreatic...

FUSF - Overview: Low-Grade Fibromyxoid Sarcoma (LGFMS), 16p11.2 (FUS or TLS) Rearrangement, FISH, Tissue

Supporting the diagnosis of low-grade fibromyxoid sarcoma when used in conjunction with an anatomic pathology consultation

MSDBS - Overview: Multiple Sulfatase Deficiency, Blood Spot

Supporting the biochemical diagnosis of multiple sulfatase deficiency This test is not useful for carrier detection.

USPF - Overview: USP6 (17p13), Aneurysmal Bone Cyst and Nodular Fasciitis, FISH, Tissue

Supporting the diagnosis of aneurysmal bone cyst or nodular fasciitis

TPRPS - Overview: ThinPrep Screen, Varies

Screening for cervical carcinoma or intraepithelial lesions

TPRPD - Overview: ThinPrep Diagnostic, Varies

Detecting cervical carcinoma or intraepithelial lesions when screening women for possible cervical neoplasia

TVRNA - Overview: Trichomonas vaginalis, Nucleic Acid Amplification, Varies

Detecting Trichomonas vaginalis in urine, cervical/endocervical or vaginal specimen types

PTOX - Overview: Toxoplasma gondii, Molecular Detection, PCR, Varies

Supporting the diagnosis of acute cerebral, ocular, disseminated, or congenital toxoplasmosis This test should not be used to screen healthy patients.

TPMT3 - Overview: Thiopurine Methyltransferase Activity Profile, Erythrocytes

Detection of individuals with low thiopurine methyltransferase (TPMT) activity who are at risk for excessive myelosuppression or severe hematopoietic toxicity when taking thiopurine drugs Detection of individuals with hyperactive TPMT...

TYRBS - Overview: Tyrosinemia Follow Up Panel, Blood Spot

Monitoring of individuals with tyrosinemia type 1 (HT-1) Diagnosis of HT-1 when used in conjunction with testing for urine organic acids, liver function, alpha-fetoprotein, and molecular genetic analysis of the fumarylacetoacetate...

HPCOV - Overview: Severe Acute Respiratory Syndrome Coronavirus 2 (SARS CoV-2), Molecular Detection, Varies

Diagnosis of COVID-19 illness due to SARS-CoV-2

STRC - Overview: Standard Renal Clearance, Plasma and Random Urine

Precise measurement of glomerular filtration rate and renal plasma flow

VZGM - Overview: Varicella-Zoster Antibody, IgM and IgG, Serum

Laboratory diagnosis of acute and recent infection with varicella-zoster virus (VZV) Determination of immune status of individuals to the VZV Documentation of previous infection with VZV in an individual without a previous record of...

HOLDF - Overview: Hematologic Disorders, Fluorescence In Situ Hybridization (FISH) Hold, Varies

Processing the bone marrow or peripheral blood specimen but delaying fluorescence in situ hybridization analysis while preliminary morphologic assessment is in process