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Test Catalog
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
SERPZ - Overview: SERPINA1 Gene, Full Gene Analysis, Varies
Identification of causative mutations when a deficient serum level of alpha-1-antitrypsin is not explained by routine testing, such as proteotyping, genotyping, or isoelectric focusing phenotyping. Determining the specific allelic variant...
MPU - Overview: Monoclonal Protein Studies, 24 Hour, Urine
Monitoring patients with monoclonal gammopathies
7AC4 - Overview: 7AC4, Bile Acid Synthesis, Serum
Screening for bile acid malabsorption in patients with irritable bowel syndrome with diarrhea
ALDNA - Overview: Aldosterone with Sodium, 24 Hour, Urine
Investigating primary aldosteronism (eg, adrenal adenoma/carcinoma and adrenal cortical hyperplasia) and secondary aldosteronism (eg, renovascular disease, salt depletion, potassium loading, cardiac failure with ascites, pregnancy, Bartter...
WEGG - Overview: Whole Egg, IgE, Serum
Establishing a diagnosis of an allergy to whole egg Defining the allergen responsible for eliciting signs and symptoms Identifying allergens: -Responsible for allergic response and/or anaphylactic episode -To confirm sensitization prior...
PHCGD - Overview: Phagocytic Disorders and Chronic Granulomatous Disease Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history of chronic granulomatous disease, Papillon-Lefevre syndrome, specific granule deficiency, leukocyte adhesion deficiency, or other phagocytic...
I2SB - Overview: Iduronate-2-Sulfatase, Blood Spot
Supporting the biochemical diagnosis of mucopolysaccharidosis II (MPS II; Hunter syndrome) This test is not useful for determining carrier status for MPS II.
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.
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)...
PST - Overview: Protein S Antigen, Total, Plasma
Aiding in the investigation of patients with a history of thrombosis
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.
POXA1 - Overview: Oxalate, Plasma
Assessing the body pool size of oxalate in patients with enzyme deficiencies, such as primary hyperoxaluria (PH), or patients with enteric hyperoxaluria Aiding in the diagnosis of PH in a patient with chronic kidney disease of...
Detecting Chlamydia trachomatis and Neisseria gonorrhoeae using rectal swabs collected by the patient in a healthcare setting This test is not intended for use in medico-legal applications. This test is not useful for the detection of...
Detecting Chlamydia trachomatis and Neisseria gonorrhoeae using a throat swab collected by the patient in a healthcare setting This test is not intended for use in medico-legal applications. This test is not useful for the detection of...
Detecting Chlamydia trachomatis and Neisseria gonorrhoeae using self-collected vaginal swabs collected by the patient in a healthcare setting This test is not intended for use in medico-legal applications. This test is not useful for the...
Detection and differentiation between recent, past/resolved, or chronic hepatitis B Diagnosis of recent hepatitis B virus (HBV) infection during the "window period" when both hepatitis B surface (HBs) antigen and anti-HBs are negative...
ADAMP - Overview: ADAMTS13 Activity with Reflex Inhibitor Profile, Plasma
Assisting with the diagnosis of immune or acquired thrombotic thrombocytopenic purpura
CAH2T - Overview: Congenital Adrenal Hyperplasia Newborn Screen, Blood Spot
Second-tier testing of newborns with abnormal screening result for congenital adrenal hyperplasia
MPQU - Overview: Monoclonal Protein Quantitation, 24 Hour, Urine
Monitoring patients with monoclonal gammopathies using 24-hour urine collections
SMPU - Overview: Monoclonal Protein Screen, 24 Hour, Urine
Monitoring patients with monoclonal gammopathies
HEAG - Overview: Hepatitis B Virus e Antigen and Hepatitis B Virus e Antibody, Serum
Determining the presence or absence of detectable hepatitis B virus e antigen and antibody in monitoring infection status of individuals with chronic hepatitis B Determining infectivity of hepatitis B virus (HBV) carriers Monitoring...
Aiding in the identification of individuals with an adaptive immune response to SARS-CoV-2, indicating prior infection or vaccination
QMPTS - Overview: Monoclonal Protein Isotype, Quantitative, Serum
Aiding in the diagnosis and monitoring of monoclonal gammopathies if used in conjunction with free light chain studies This test alone is not considered an adequate screen for monoclonal gammopathies.
LSDGP - Overview: Lysosomal Storage Disease Gene Panel, Varies
Follow up for abnormal biochemical results and confirmation of suspected lysosomal storage disease (LSD) Establishing a molecular diagnosis for patients with LSD Identifying variants within genes known to be associated with LSD, allowing...
TTRZ - Overview: TTR Gene, Full Gene Analysis, Varies
Establishing a molecular diagnosis for patients with amyloidosis Identifying variants within TTR known to be associated with amyloidosis, allowing for predictive testing of at-risk family members
SCN5A - Overview: Brugada Syndrome, SCN5A Full Gene Analysis, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Brugada syndrome Establishing a diagnosis of Brugada syndrome
PCDGG - Overview: Primary Ciliary Dyskinesia Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of primary ciliary dyskinesia Establishing a diagnosis of primary ciliary dyskinesia
ZW172 - Overview: Miscellaneous Center for Genetic Testing at St. Francis
Miscellaneous Center for Genetic Testing at St. Francis
FEHAG - Overview: Entamoeba histolytica Antigen, EIA
Entamoeba histolytica Antigen, EIA
FDM1 - Overview: DMPK DNA Test (DM1)
DMPK DNA Test (DM1)
HBAB - Overview: Hepatitis B Virus Surface Antibody, Qualitative/Quantitative, Serum
Identifying previous exposure to hepatitis B virus Determining adequate immunity from hepatitis B vaccination
HBBSN - Overview: Hepatitis B Virus Surface Antibody Screen, Qualitative/Quantitative, Serum
Identifying previous exposure to hepatitis B virus
A1ALC - Overview: Alpha-1-Antitrypsin Proteotype S/Z, LC-MS/MS, Serum
Identification of homozygous and heterozygous S and Z proteotypes of alpha-1-antitrypsin deficiency
TLYME - Overview: Lyme IgM and IgG, Whole Cell Sonicate, ELISA, Serum
Supplemental testing for samples with positive or equivocal first-tier test results for antibodies to Lyme disease causing Borrelia species This test should not be used as a screening procedure for the general population.
EHBAP - Overview: Ehrlichia/Babesia Antibody Panel, Immunofluorescence, Serum
As an adjunct in the diagnosis of infection with Anaplasma phagocytophilum, Ehrlichia chaffeensis, or Babesia microti Seroepidemiological surveys of the prevalence of the infection in certain populations
FMETN - Overview: Metformin, Plasma
Metformin, Plasma
SQTSG - Overview: Short QT Syndrome Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of short QT syndrome Establishing a diagnosis of short QT syndrome
HYPBG - Overview: Hypobetalipoproteinemia Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of familial hypobetalipoproteinemia
PLSD - Overview: Lysosomal and Peroxisomal Disorders Screen, Blood Spot
Evaluation of patients with a clinical presentation suggestive of a lysosomal disorder, specifically Gaucher, infantile neurovisceral or chronic visceral acid sphingomyelinase deficiency, Pompe, Krabbe, or Fabry disease, or...
SMNDX - Overview: Spinal Muscular Atrophy Diagnostic Assay, Deletion/Duplication Analysis, Varies
First-tier newborn screening for spinal muscular atrophy (SMA) Prenatal testing for SMA Diagnostic testing to confirm a suspected diagnosis of SMA
WESR - Overview: Whole Exome Sequencing Reanalysis, Varies
Identifying a diagnosis or additional variants associated with the phenotype in patients who previously have had a negative or inconclusive whole exome sequencing test Reanalyzing whole exome sequencing data when a patient (proband)...
CTB - Overview: Mycobacteria and Nocardia Culture, Varies
Detection and identification of Mycobacterium species, Nocardia species, and other aerobic actinomycetes
PSF - Overview: Protein S Antigen, Free, Plasma
As part of an investigation of patients with a history of thrombosis
GAAZ - Overview: Pompe Disease, Full Gene Analysis, Varies
Confirmation of diagnosis of Pompe disease (as a follow-up to biochemical analyses)
BAMRP - Overview: Bile Acids Malabsorption Panel, Serum and Feces
Aiding in the evaluation of patients suspected of having chronic diarrhea symptoms due to bile acid malabsorption
HL57R - Overview: HLA-B*57:01 Genotype, Pharmacogenomics, Varies
Identifying individuals with an increased risk of hypersensitivity reactions to abacavir, based on the presence of the human leukocyte antigen HLA-B*57:01 allele Identifying individuals taking pazopanib who have an increased risk of...
HBABP - Overview: Hepatitis B Virus Surface Antibody Prenatal, Qualitative/Quantitative, Serum
Identifying previous exposure to hepatitis B virus in pregnant individuals Determining adequate immunity from hepatitis B vaccination during pregnancy
RLTE4 - Overview: Leukotriene E4, Random, Urine
Aiding in the evaluation of patients at-risk for mast cell activation syndrome (eg, systemic mastocytosis, IgE-mediated allergies, or aspirin-exacerbated respiratory disease) using random urine collections
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
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