Test Catalog Search Results
CMITO - Overview: Combined Mitochondrial Full Genome and Nuclear Gene Panel, Varies
Diagnosing mitochondrial disease that results from variants in either nuclear-encoded genes or the mitochondrial genome A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial...
GNHMA - Overview: Hemophilia A, F8 Gene, Next-Generation Sequencing, Varies
Confirming a clinical diagnosis of hemophilia A in affected male patients with the identification of a disease-causing variant in the F8 gene Determining the disease-causing alteration within the F8 gene to delineate the underlying...
LDALD - Overview: Lysosomal and Peroxisomal Disorders Newborn Screen, Blood Spot
First-tier newborn screen for the lysosomal disorders: Fabry, Gaucher, Krabbe, mucopolysaccharidosis I (MPS I) and II (MPS II), infantile neurovisceral or chronic visceral acid sphingomyelinase deficiency, and Pompe (glycogen storage...
SCIDP - Overview: Severe Combined Immunodeficiency (SCID) Gene Panel, Varies
Establishing a diagnosis of a severe combined immunodeficiency (SCID) associated with known causal genes Identifying variants within genes known to be associated with SCID, allowing for predictive testing of at-risk family members and/or...
Diagnostic workup of patients with a high probability of BCR-ABL1-positive hematopoietic neoplasms, particularly chronic myeloid leukemia and Ph+ acute lymphoblastic leukemia (B-lymphoblastic leukemia), to provide a pretreatment...
A1APP - Overview: Alpha-1-Antitrypsin Phenotype, Serum
Identification of homozygous and heterozygous phenotypes of the alpha-1-antitrypsin deficiency
ALB24 - Overview: Albumin, 24 Hour, Urine
Evaluating diabetic patients to assess the potential for early onset of nephropathy
ALUCR - Overview: Aluminum/Creatinine Ratio, Random, Urine
Monitoring aluminum exposure when a 24-hour urine cannot be collected Monitoring metallic prosthetic implant wear when a 24-hour urine cannot be collected This test is not an acceptable substitute for serum aluminum measurements and is...
SPASU - Overview: Arsenic Speciation, 24 Hour, Urine
Diagnosing arsenic intoxication using 24-hour urine specimens
A124 - Overview: Alpha-1-Microglobulin, 24 Hour, Urine
Assessment of renal tubular injury or dysfunction using 24-hour urine collections Screening for tubular abnormalities Detecting chronic asymptomatic renal tubular dysfunction(2)
GUSBB - Overview: Beta-Glucuronidase, Blood Spot
Supporting the biochemical diagnosis of mucopolysaccharidosis VII (MPS VII, Sly syndrome) This test is not useful for determining carrier status for MPS VII.
ALU - Overview: Aluminum, 24 Hour, Urine
Monitoring aluminum exposure Preferred matrix for assessment of exposure in patients with normal kidney function since rapidly filtered by kidneys Monitoring metallic prosthetic implant wear This test is not an acceptable substitute for...
CJDEI - Overview: Creutzfeldt-Jakob Disease Evaluation Interpretation, Spinal Fluid
Interpretation of the Creutzfeldt-Jakob Disease Evaluation
FFRWB - Overview: Friedreich Ataxia, Frataxin, Quantitative, Blood
Diagnosing individuals with Friedreich ataxia in whole blood specimens Monitoring frataxin levels in patients with Friedreich ataxia This test is not useful for carrier detection.
Measuring the delta-9 carboxy-tetrahydrocannabinol to creatinine ratio to detect use of tetrahydrocannabinol
FLT - Overview: FLT3 Mutation Analysis, Varies
Prognostic indication for some patients with acute myeloid leukemia This test should not be used to monitor residual disease following treatment.
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
DOCK8 - Overview: Dedicator of Cytokinesis 8 (DOCK8) Deficiency, Blood
Aiding in the diagnosis of dedicator of cytokinesis 8 (DOCK8) deficiency This test is not useful for assessing DOCK8 carrier status.
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.
CTXP - Overview: Cerebrotendinous Xanthomatosis, Plasma
Evaluating patients with a clinical suspicion of cerebrotendinous xanthomatosis (CTX) using plasma specimens Monitoring of individuals with CTX on chenodeoxycholic acid (CDCA) therapy This test is not useful for the identification of...
CARTF - Overview: Carbamazepine Profile, Serum
Monitoring patients exhibiting symptoms of carbamazepine toxicity whose total serum carbamazepine concentration is within the therapeutic range, but who may be producing significant levels of the active metabolite epoxide Free...
TULG - Overview: Francisella tularensis Antibody, IgG, ELISA, Serum
Evaluating the presence of IgG antibodies in patients with suspected tularemia caused by Francisella tularensis This test should not be used as a test of cure as it is not quantitative. Patients may remain seropositive for months to years...
BRAFB - Overview: Cell-Free DNA BRAF V600, Blood
An alternative to invasive tissue biopsies for the determination of BRAF V600E and V600K alterations Identification of patients with cancer who are most likely to benefit from targeted therapies This test is not intended for serial...
CARBI - Overview: Carbapenem Resistance Genes, Molecular Detection, PCR, Varies
Detecting and differentiating blaKPC, blaNDM, blaVIM, blaOXA-48, and blaIMP gene sequences associated with carbapenem intermediate or resistant results Aiding in infection control in the detection of gastrointestinal colonization of...
UHBAG - Overview: Histoplasma and Blastomyces Antigen, Enzyme Immunoassay, Urine
Diagnosing Histoplasma capsulatum or Blastomyces dermatitidis infection, without differentiation between the organisms, using random urine specimens Monitor antigen levels following initiation of antifungal treatment
HIBC - Overview: Histoplasma/Blastomyces Panel, Spinal Fluid
Aiding in the diagnosis of histoplasmosis or blastomycosis meningitis
HBRP - Overview: Histoplasma capsulatum/Blastomyces species, Molecular Detection, PCR, Varies
Rapid detection of Histoplasma capsulatum and Blastomyces dermatitidis DNA Aiding in the rapid diagnosis of histoplasmosis and blastomycosis
HSVPB - Overview: Herpes Simplex Virus (HSV), Molecular Detection, PCR, Blood
Aiding in the rapid diagnosis of disseminated disease due to herpes simplex virus (HSV) Qualitative detection of HSV DNA This test should not be used to screen asymptomatic patients.
GIAR - Overview: Giardia Antigen, Feces
Sensitive screening for the detection of Giardia antigens present in fecal specimens
LRBA - Overview: Lipopolysaccharide-Responsive Beige-Like Anchor Protein (LRBA) Deficiency, Blood
Aiding in the diagnosis of lipopolysaccharide-responsive beige-like anchor protein (LRBA) deficiency This test is not useful for identifying a carrier status for LRBA deficiency.
MTBT - Overview: Mycobacterium tuberculosis Complex, Molecular Detection, PCR, Paraffin, Tissue
Preferred method for rapid detection of Mycobacterium tuberculosis complex DNA in formalin-fixed, paraffin-embedded tissue specimens Detecting M tuberculosis complex This test is not intended for the detection of latent tuberculosis and...
Detecting Mycoplasma genitalium in cases of suspected infection in peritoneal fluid or prostatic secretion (VBIII) fluid/urine This test is not intended for use in medico-legal applications.
INAB - Overview: Insulin Antibodies, Serum
Predicting the future development of type 1 diabetes in asymptomatic children, adolescents, and young adults, when used in conjunction with family history, human leukocyte antigen-typing, and other autoantibodies, including glutamic acid...
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
HAIGM - Overview: Hepatitis A Virus IgM Antibody, Serum
Diagnosis of acute or recent hepatitis A infection
LEGRP - Overview: Legionella species, Molecular Detection, PCR, Varies
Sensitive and rapid diagnosis of pneumonia caused by Legionella species The assay is not recommended as a test of cure because bacteria nucleic acids may persist after successful treatment.
GDU - Overview: Gadolinium, 24 Hour, Urine
Assessing chronic exposure and monitoring effectiveness of dialysis in a 24-hour urine collection
HGUCR - Overview: Mercury/Creatinine Ratio, Random, Urine
Detecting mercury toxicity, a toxic heavy metal, using random urine specimens
NIU - Overview: Nickel, 24 Hour, Urine
Preferred test for biomonitoring patients for nickel exposure to minimize any potential diurnal variation
Confirmation of an elevated urinary nickel concentration This test is not useful for the investigation of nickel hypersensitivity.
MSDW - Overview: Multiple Sulfatase Deficiency, Leukocytes
Supporting the biochemical diagnosis of multiple sulfatase deficiency in whole blood specimens This test is not useful for carrier detection.
NCLW - Overview: Neuronal Ceroid Lipofuscinosis, Two-Enzyme Panel, Leukocytes
Supporting the biochemical diagnosis of two neuronal ceroid lipofuscinoses, CLN1 and CLN2 in whole blood specimens This test is not useful for carrier detection.
OPE - Overview: Ova and Parasite, Travel History or Immunocompromised, Feces
Detecting and identifying parasitic protozoa and eggs and larvae of parasitic helminths in stool specimens
PBGD_ - Overview: Porphobilinogen Deaminase, Whole Blood
Confirmation of a diagnosis of acute intermittent porphyria
OAUS - Overview: Organic Acids Screen, Urine Spot
Diagnosis of inborn errors of metabolism using dried urine specimens
PRSSZ - Overview: PRSS1 Gene, Full Gene Analysis, Varies
Confirmation of suspected clinical diagnosis of hereditary pancreatitis (HP) in patients with chronic pancreatitis Identification of familial PRSSI mutation to allow for predictive and diagnostic testing in family members
LDAI - Overview: Progentec aiSLE DX Lupus Disease Activity Index, Plasma
Aiding in the assessment of current systemic lupus erythematosus disease activity when used in conjunction with standard clinical assessment
TIWB - Overview: Titanium, Blood
Detecting and monitoring titanium exposure and potential implant status in patients with orthopedic implants
SALMC - Overview: Salmonella Culture, Feces
Determining whether Salmonella species may be the cause of diarrhea Reflexive testing for Salmonella species from nucleic acid amplification test-positive feces This test is generally not useful for patients hospitalized more than 3...
VRERP - Overview: Vancomycin-Resistant Enterococcus, Molecular Detection, PCR, Varies
Identifying carriers of vancomycin-resistant enterococci