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Test Catalog

AIHL - Overview: Aminoglycoside-Induced Hearing Loss, Targeted Variant Testing, Droplet Digital PCR, Varies

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...

IN16Q - Overview: CBFB::MYH11 Inversion(16), Quantitative Detection and Minimal Disease Risk Monitoring, qRT-PCR, Varies

Detection of CBFB::MYH11 gene fusion in patients recently diagnosed with acute myeloid leukemia (AML) Minimal residual disease monitoring during the clinical and therapeutic course of patients with AML

COCOU - Overview: Cortisol/Cortisone, Free, 24 Hour, Urine

Screening test for Cushing syndrome (hypercortisolism) Assisting in diagnosing acquired or inherited abnormalities of 11-beta-hydroxy steroid dehydrogenase (cortisol to cortisone ratio) Diagnosis of pseudo-hyperaldosteronism due to...

CLFAT - Overview: Cryptococcus Antigen Titer, Lateral Flow Assay, Spinal Fluid

Monitoring Cryptococcus antigen titers in cerebrospinal fluid Aiding in the diagnosis of cryptococcosis This test should not be used as a test of cure or to guide treatment decisions.

PDBS - Overview: Pompe Disease, Blood Spot

Evaluating patients with a clinical presentation suggestive of Pompe disease (muscle hypotonia, weakness, or cardiomyopathy) outside of the newborn screening setting

TRYPT - Overview: Tryptase, Serum

Evaluation of individuals with suspected mast cell activation, which may occur as a result of anaphylaxis or allergen challenge Evaluation of patients with suspected mast cell activation syndrome Evaluation of patients with suspected...

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,...

EBLPD - Overview: Epstein Barr Virus (EBV) Susceptibility and Lymphoproliferative Disorders Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of Epstein-Barr virus (EBV) susceptibility or a heritable predisposition to lymphoproliferative disease Establishing a diagnosis of a...

HCHLG - Overview: Hypercholesterolemia Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of familial hypercholesterolemia (FH), sitosterolemia, or other monogenic forms of inherited hypercholesterolemia Establishing a diagnosis of FH,...

HLLFH - Overview: Hematologic Disorders, Leukemia/Lymphoma; Flow Hold, Varies

Evaluating lymphocytoses of undetermined etiology Identifying B- and T-cell lymphoproliferative disorders involving blood and bone marrow Distinguishing acute lymphoblastic leukemia from acute myeloid leukemia (AML) Immunologic...

ALBLD - Overview: Bleeding Diathesis Profile, Limited, Plasma

Detection of the more common potential causes of abnormal bleeding (eg, factor deficiencies/hemophilia, von Willebrand disease, factor-specific inhibitors) and a simple screen to evaluate for an inhibitor or severe deficiency of factor XIII...

GABA - Overview: Gabapentin, Serum

Monitoring serum gabapentin concentrations Assessing compliance Adjusting dosage in patients

GBETH - Overview: General Factor Bethesda Units, Plasma

Detecting and quantifying the presence and titer of a specific factor inhibitor directed against a specific coagulation factor

MEX - Overview: Mexiletine, Serum

Assessing achievement of optimal therapeutic mexiletine concentrations Assessing potential mexiletine toxicity

TOBRA - Overview: Tobramycin, Random, Serum

Monitoring adequacy of serum concentration during tobramycin therapy This unit code is used whenever a specimen is submitted or collected without collection timing information. The phlebotomist should use this unit code if she or he does...

FLUC - Overview: 5-Flucytosine, Serum

Monitoring serum concentration during therapy Evaluating potential toxicity May aid in evaluating patient compliance

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

RAPAN - Overview: Rheumatoid Arthritis Panel, Serum

Evaluating patients suspected of having rheumatoid arthritis (RA) Differentiating RA from other inflammatory arthritis or connective tissue diseases Diagnosis and stratification of rheumatoid arthritis

MYEFL - Overview: Myelodysplastic Syndrome by Flow Cytometry, Bone Marrow

Detecting increased blasts Characterizing blast phenotypes Identifying abnormal patterns of myeloid maturation as seen in myelodysplastic syndromes and other clonal myeloid neoplasms Providing additional adjunct diagnostic information in...

RETF - Overview: Lung Cancer, RET (10q11) Rearrangement, FISH, Tissue

Identifying RET gene rearrangements in patients with late-stage, lung adenocarcinomas that are negative for epidermal growth factor receptor mutations and anaplastic lymphoma kinase rearrangements Fluorescence in situ hybridization (FISH)...

CHRCB - Overview: Chromosome Analysis, Congenital Disorders, Blood

Diagnosis of congenital chromosome abnormalities, including aneuploidy, structural abnormalities, and balanced rearrangements

TLPDF - Overview: T-Cell Lymphoma, Diagnostic FISH, Varies

Detecting, at diagnosis, common chromosome abnormalities associated with specific T-cell lymphoma subtypes using a laboratory-designated probe set algorithm

MESOF - Overview: Mesothelioma, CDKN2A FISH, Tissue

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

WGSDX - Overview: Whole Genome Sequencing for Hereditary Disorders, Varies

Serving as a first-tier test to identify a molecular diagnosis in patients with suspected genetic disorders, which can allow for: -Better understanding of the natural history/prognosis -Targeted management (anticipatory guidance, management...

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...

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

CMPRG - Overview: Family Member Comparator Specimen for Genome Sequencing, Varies

Submitting a biological family member's specimen to be used as a comparator for affected patients (probands) undergoing whole genome sequencing

CMAMA - Overview: Comprehensive Metabolic Panel, Serum

Routine health monitoring Patient monitoring while hospitalized for information regarding metabolism, including the current kidney status, electrolyte and acid/base balance, and blood glucose

ADAMS - Overview: ADAMTS13 Activity Assay, Plasma

Assisting with the diagnosis and monitoring of congenital, immune, or acquired thrombotic thrombocytopenic purpura

HCMM - Overview: Homocysteine (Total), Methylmalonic Acid, and Methylcitric Acid, Blood Spot

Second-tier assay of newborn screening specimens when abnormal propionyl carnitine or methionine concentrations are identified in a primary newborn screen

JAK2B - Overview: JAK2 V617F Mutation Detection, Blood

Aiding in the distinction between a reactive blood cytosis and a chronic myeloproliferative disorder using peripheral blood specimens

JAKXM - Overview: JAK2 Exon 12 and Other Non-V617F Mutation Detection, Bone Marrow

Second-order testing to aid in the distinction between a reactive cytosis and a myeloproliferative neoplasm, particularly when a diagnosis of polycythemia is being entertained; for use with bone marrow specimens

SLFAT - Overview: Cryptococcus Antigen Titer, Lateral Flow Assay, Serum

Monitoring Cryptococcus antigen titers in serum Aiding in the diagnosis of cryptococcosis This test should not be used as a test of cure or to guide treatment decisions.

HERGM - Overview: HER2, Gastric/Esophageal, Semi-Quantitative Immunohistochemistry, Manual

Determining overexpression of HER2 protein of gastric and esophageal adenocarcinoma in formalin-fixed, paraffin-embedded tissue sections (with reflex to FISH testing)

ROMA - Overview: ROMA Score (Ovarian Malignancy Risk Algorithm), Serum

Risk assessment for finding an ovarian malignancy during surgery in women who present with an adnexal mass The test is not intended as a screening or stand-alone diagnostic assay for ovarian cancer.

DCME - Overview: Dendritic Cell and Monocyte Enumeration, Blood

Aiding in the diagnosis of patients suspected of defects in innate immunity, particularly those involving monocyte and dendritic cell development This test has not been validated for the diagnosis of hematologic malignancies.

GMCSF - Overview: Granulocyte Monocyte-Colony Stimulating Factor, Plasma

Measuring the concentration of granulocyte macrophage-colony stimulating factor (GM-CSF) in plasma Understanding the etiology of chronic inflammatory diseases or infections, when used in conjunction with clinical information and other...

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Beyond Q-tips: The swabbing guide for SARS-CoV-2 - Insights

Webinar" will discuss the various types of swabs that can be used to collect specimens for SARS-CoV-2 molecular testing....

Cases with Dr. Keeney: Case #2 - Insights

detailing the ancillary studies and discussing the differential diagnosis of the cases. View case #2....

Other Archives - Page 2 of 2 - Insights

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Week in Review Archives - Page 2 of 2 - Insights

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