GAAW - Overview: Acid Alpha-Glucosidase, Leukocytes

Diagnosis of Pompe disease

WAGDR - Overview: Alpha Globin Cluster Locus Deletion/Duplication, Blood

Diagnosis of alpha-thalassemia Carrier screening for individuals from high-risk populations for alpha-thalassemia This test is not useful for diagnosis or confirmation of beta-thalassemia or hemoglobinopathies.

WASEQ - Overview: Alpha Globin Gene Sequencing, Varies

Diagnosing nondeletional alpha thalassemia Testing for nondeletional alpha thalassemia in a symptomatic individual Follow-up testing to an abnormal hemoglobin electrophoresis that identified an alpha-globin chain variant

ASOU - Overview: Arsenic Occupational Exposure, Random, Urine

Screening test for detection of occupational exposure to arsenic in random urine specimens

AGNTC - Overview: Anti-Glial/Neuronal Nuclear Antibody-Type 1 (AGNA-1) Titer, Spinal Fluid

Reporting an end titer result from cerebrospinal fluid (CSF) specimens Serological evaluation using CSF specimens from patients who present with a subacute neurological disorder of undetermined etiology, especially those with risk factors...

ALPS - Overview: Alpha Beta Double-Negative T Cells for Autoimmune Lymphoproliferative Syndrome, Blood

Diagnosing autoimmune lymphoproliferative syndrome, primarily in patients younger than 45 years

APTSC - Overview: Activated Partial Thromboplastin Time (APTT), Plasma

Screening for certain coagulation factor deficiencies and abnormalities (eg, factor VIII, IX, XI, or XII) Detecting coagulation inhibitors such as lupus anticoagulant, antiphospholipid antibodies, specific factor inhibitors, and...

LCMSP - Overview: Microsporidia species, Molecular Detection, PCR, Varies

Detecting Enterocytozoon bieneusi and Encephalitozoon species in fecal and urine specimens to support the clinical diagnosis of microsporidiosis

RO52 - Overview: Ro52 Antibody, IgG, Serum

Evaluating patients at risk for connective tissue disease with or without interstitial lung disease Differentiating single vs double positivity for Ro52 and Ro60 antibodies in combination with anti-Ro60

ROPG - Overview: Measles (Rubeola) Antibodies, IgG, Serum

Determining immune status of individuals to the measles virus Documenting previous infection with measles virus in an individual without a previous record of immunization to measles virus

RISAP - Overview: Risankizumab Quantitation with Antibodies, Serum

Evaluation of patients with limited primary (initial) response to or secondary loss of response to risankizumab

RO60 - Overview: Ro60 Antibody, IgG, Serum

Evaluating patients at risk for connective tissue disease with or without interstitial lung disease Differentiating single vs double positivity for Ro52 and Ro60 antibodies in combination with anti-Ro60

CITR - Overview: Citrate Excretion, 24 Hour, Urine

Diagnosing risk factors for patients with calcium kidney stones Monitoring results of therapy in patients with calcium stones or renal tubular acidosis

CSTB - Overview: CSTB Gene, Repeat Expansion Analysis, Varies

Molecular confirmation of clinically suspected CSTB-related progressive myoclonic epilepsy Identifying full penetrance dodecamer repeat expansions within CSTB known to cause CSTB-related progressive myoclonic epilepsy, allowing for...

CH9 - Overview: Chromogenic Factor IX Activity Assay, Plasma

Monitoring coagulation factor replacement therapy of selected extended half-life coagulation factor replacements Aiding in the diagnosis of hemophilia B using a 2-stage assay, especially when a 1-stage assay was normal

CYPAN - Overview: Cytokine Panel, Plasma

Understanding the etiology of infectious or chronic inflammatory diseases, when used in conjunction with clinical information and other laboratory testing Research studies in which an assessment of cytokine responses is needed

BPAB - Overview: Bullous Pemphigoid, BP180 and BP230, IgG Antibodies, Serum

Initial screening test in the diagnosis of bullous pemphigoid and its variants Complementing the standard serum test of indirect immunofluorescence utilizing primate esophagus substrate and primate salt-split skin substrate (CIFS /...

AGNTS - Overview: Anti-Glial/Neuronal Nuclear Antibody-Type 1 (AGNA-1) Titer, Serum

Reporting an end titer result from serum specimens Serological evaluation using serum specimens from patients who present with a subacute neurological disorder of undetermined etiology, especially those with risk factors for primary lung...

PREGN - Overview: Pregnenolone, Serum

An ancillary test for congenital adrenal hyperplasia, particularly in situations in which a diagnosis of both 21- and 11-hydroxylase deficiency have been ruled out Confirming a diagnosis of 3-beta-hydroxy dehydrogenase deficiency

UPGD - Overview: Uroporphyrinogen Decarboxylase, Whole Blood

Preferred test for the confirmation of a diagnosis of porphyria cutanea tarda type II and hepatoerythropoietic porphyria

ASCU - Overview: Arsenic/Creatinine Ratio, Urine

Screening for arsenic exposure using random urine specimens

11INE - Overview: Factor XI Inhibitor Evaluation, Plasma

Detection and quantitation of inhibitor to coagulation factor XI This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a nonspecific circulating anticoagulant, or other inhibitors that are not...

CDPCR - Overview: Clostridioides difficile Toxin, PCR, Feces

Sensitive, specific, and rapid diagnosis of Clostridioides (Clostridium) difficile-associated diarrhea and pseudomembranous colitis The test is not recommended as a test of cure.

GNPLT - Overview: Platelet Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies

Evaluating hereditary platelet disorders in patients with a personal or family history suggestive of a hereditary platelet disorder Diagnosing hereditary platelet disorders for patients in whom phenotypic testing is nondiagnostic, but...

GNBLC - Overview: Bleeding Disorders, Comprehensive Gene Panel, Next-Generation Sequencing, Varies

Evaluating hereditary bleeding in patients with a personal or family history suggestive of a hereditary bleeding disorder Confirming a hereditary bleeding disorder diagnosis with the identification of a known or suspected disease-causing...

WESDX - Overview: Whole Exome 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...

VWD8B - Overview: von Willebrand Disease 2N (Subtype Normandy), Plasma

Diagnosing von Willebrand disease (VWD) type 2N Evaluating patients diagnosed with mild-to-moderate hemophilia A with an autosomal inheritance pattern Evaluating hemophilia A patients with a shortened survival of infused factor VIII...

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

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...

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)...

PAI1 - Overview: Plasminogen Activator Inhibitor Antigen, Plasma

Identification of heredity elevation or deficiency of plasminogen activator inhibitor type 1 Determination of risk for veno-occlusive disease associated with bone marrow transplantation Differential diagnosis of impaired fibrinolysis...

SLC1Q - Overview: Solute Carrier Organic Anion Transporter Family Member 1B1 (SLCO1B1) Genotype, Statin, Varies

Predicting risk for statin-associated myopathy in patients beginning statin therapy, especially simvastatin therapy Determining a potential statin lipid lowering response, especially when using pravastatin

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.

HIP12 - Overview: HIV-1/HIV-2 RNA Detection, Plasma

Diagnosis of HIV-1 and/or HIV-2 infection in individuals with indeterminate or inconclusive HIV serologic test results Diagnosis of HIV-1 and/or HIV-2 infection in individuals with acute or early HIV-1 and/or HIV-2 infection Diagnosis of...

HIS12 - Overview: HIV-1/HIV-2 RNA Detection, Serum

Diagnosis of HIV-1 and/or HIV-2 infection in individuals with indeterminate or inconclusive HIV serologic test results Diagnosis of HIV-1 and/or HIV-2 infection in individuals with acute or early HIV-1 and/or HIV-2 infection Diagnosis...

HBNTP - Overview: Hepatitis B Virus Surface Antigen Confirmation, Prenatal, Serum

Diagnosis of acute, recent, or chronic hepatitis B in prenatal patients This test is not useful during the "window period" of acute hepatitis B (ie, after disappearance of hepatitis B virus surface antigen [HBsAg] and prior to appearance...

HEVQU - Overview: Hepatitis E Virus RNA Detection and Quantification, Real-Time RT-PCR, Serum

Virologic detection and confirmation of hepatitis E virus (HEV) infection in individuals who are immunocompromised and are at risk for or suspected to have acute or chronic hepatitis E Monitoring HEV RNA levels and determining eradication...

IMMG - Overview: Immunoglobulins (IgG, IgA, and IgM), Serum

Detecting or monitoring of monoclonal gammopathies and immune deficiencies

7INHE - Overview: Factor VII Inhibitor Evaluation, Plasma

Detection and quantitation of inhibitor to coagulation factor VII This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a nonspecific circulating anticoagulant, or other inhibitors that are not...

9INHE - Overview: Factor IX Inhibitor Evaluation, Plasma

Detection and titering of coagulation inhibitor to the specific factor requested, primarily factor IX in patients with hemophilia B This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a...

ASPAG - Overview: Aspergillus (Galactomannan) Antigen, Serum

Aiding in the diagnosis of invasive aspergillosis Assessing response to therapy

APCRV - Overview: Activated Protein C Resistance V (APCRV), Plasma

Evaluation of patients with incident or recurrent venous thromboembolism (VTE) Evaluation of individuals with a family history of VTE

ADAMP - Overview: ADAMTS13 Activity with Reflex Inhibitor Profile, Plasma

Assisting with the diagnosis of immune or acquired thrombotic thrombocytopenic purpura

LADV - Overview: Adenovirus, Molecular Detection, PCR, Varies

Aiding in the diagnosis of adenovirus infections

BNP - Overview: B-Type Natriuretic Peptide, Plasma

Aiding in the diagnosis of congestive heart failure (CHF) The role of B-type natriuretic peptide in monitoring CHF therapy is under investigation.

MMPP - Overview: Mitochondrial Metabolites, Plasma

Monitoring patients with mitochondrial disorders, organic acidurias, and ketone body disorders

ROPAN - Overview: Ro52 and Ro60 Antibodies, IgG, Serum

Evaluating patients at risk for connective tissue disease with or without interstitial lung disease Differentiation of antibodies to Ro52 and Ro60 in patients known to be positive for anti-SS-A (Ro) antibodies

CATLN - Overview: Calcitonin, Fine-Needle Aspiration Biopsy Needle Wash, Lymph Node

As an adjunct to cytologic examination of fine-needle aspiration specimens in athyrotic individuals treated for medullary thyroid carcinoma to confirm or exclude metastases in enlarged or ultrasonographically suspicious lymph nodes

CDIF - Overview: Clostridioides difficile Culture, Varies

Providing an isolate suitable for antimicrobial susceptibility testing

CCP - Overview: Cyclic Citrullinated Peptide Antibodies, IgG, Serum

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