Test Catalog Search Results

BALFP - Overview: Pediatric B-Lymphoblastic Leukemia/Lymphoma Panel, FISH, Varies

Detecting, at diagnosis, recurrent common chromosome abnormalities associated with B-cell acute lymphoblastic leukemia/lymphoma (B-ALL/LBL) and BCR::ABL1-like B-ALL in pediatric/young adult patients using a laboratory-designated probe set...

ARSU - Overview: Arylsulfatase A, 24 Hour, Urine

Detection of arylsulfatase A deficiency using urine specimens This test is not suitable for carrier detection.

ARSBB - Overview: Arylsulfatase B, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) This test is not useful for carrier detection for MPS VI

BTK - Overview: Bruton Tyrosine Kinase, Protein Expression, Flow Cytometry, Blood

Preliminary screening for X-linked agammaglobulinemia, primarily in male patients (<65 years) or female carriers (child-bearing age: <45 years)

WBGDD - Overview: Beta-Globin Gene Cluster, Deletion/Duplication, Varies

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...

MPS3B - Overview: Mucopolysaccharidosis III, Three-Enzyme Panel, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidoses types IIIA, IIIB, IIIC This test is not useful for carrier detection.

WGSEQ - Overview: Gamma-Globin Full Gene Sequencing, Varies

An adjunct in the interpretation of hemoglobin electrophoresis results Evaluation for suspected gamma variants or nondeletional hereditary persistence of fetal hemoglobin Assessment of unstable gamma chain variants when other tests for...

EBVAB - Overview: Epstein-Barr Virus Antibody Profile, Serum

Diagnosis of Epstein-Barr virus (EBV) infectious mononucleosis or other EBV related infections Identification of prior EBV infection as part of pre-immunosuppression screening This assay is not intended for viral isolation or...

TPPA - Overview: Syphilis Antibody, Treponema pallidum Particle Agglutination, Serum

An aid to resolve discrepant results between screening treponemal and non-treponemal assays This test is not recommended for general screening purposes for syphilis. This test should not be used to evaluate response to therapy. This test...

PLAFL - Overview: Platelet Surface Glycoprotein by Flow Cytometry, Blood

Identification of markedly decreased CD41 (GPIIb) and CD61 (GPIIIa) expression levels, which are diagnostic for Glanzmann thrombasthenia Identification of markedly decreased CD42a (GPIX) and CD42b (GPIb-alpha) expression levels, which are...

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.

MSMRT - Overview: Mayo Algorithmic Approach for Stratification of Myeloma and Risk-Adapted Therapy Report, Bone Marrow

Risk stratification of patients with treated multiple myeloma, which can assist in determining treatment and management decisions Risk stratification of patients with newly diagnosed multiple myeloma

FPFUZ - Overview: Phenosense Entry HIV Drug Resistance Assay

Determines phenotypic susceptibility to enfuvirtide (Fuzeon) and assesses likely effectiveness before enfuvirtide is added to a patient's regimen or before changing a regimen that includes enfuvirtide.

DWPAN - Overview: Comprehensive Distal Weakness Gene Panel, Varies

Establishing a molecular diagnosis for patients with distal weakness Identifying variants within genes known to be associated with distal weakness, allowing for predictive testing of at-risk family members

RP - Overview: Respiratory Panel, PCR, Nasopharyngeal

Rapid detection of respiratory infections caused by the following: -Adenovirus -Coronavirus serotypes HKU1, NL63, 229E, OC43 -SARS-CoV-2, the causative agent of COVID-19 -Human metapneumovirus -Human rhinovirus/enterovirus -Influenza A...

ARSAB - Overview: Arylsulfatase A, Blood Spot

Second-tier newborn screening test for metachromatic leukodystrophy (MLD) when sulfatides are elevated Enzymatic test for detection of arylsulfatase A deficiency This test is not suitable for carrier detection.

APOEG - Overview: Apolipoprotein E Genotyping, Blood

Determining the specific apolipoprotein E (APOE) genotypes in individuals with type III hyperlipoproteinemia Determining the specific APOE genotypes that may increase risk for amyloid related imaging abnormalities in individuals being...

CTP10 - Overview: Catecholamine Fractionation, Standing, Plasma, Free

Diagnosis of pheochromocytoma and paraganglioma in specimens collected from individuals in a standing position, as an auxiliary test to fractionated plasma and urine metanephrine measurements Diagnosis and follow-up of patients with...

BPGMM - Overview: 2,3-Bisphosphoglycerate Mutase, Full Gene Sequencing Analysis, Varies

Diagnosing 2,3-bisphosphoglycerate mutase deficiency in individuals with lifelong, unexplained erythrocytosis Identifying genetic variant carriers in family members of an affected individual for the purposes of preconception genetic...

PSY - Overview: Psychosine, Blood Spot

Aids in the biochemical detection of Krabbe disease and saposin A cofactor deficiency Second-tier testing or follow up testing after an abnormal newborn screening result in an infant for Krabbe disease This test is not capable of...

MSMRD - Overview: Myeloma Stratification and Risk-Adapted Therapy with Reflex to Measurable/Minimal Residual Disease, Bone Marrow

Risk stratification of patients with treated multiple myeloma, which can assist in determining treatment and management decisions with reflex to measurable residual disease assessment for more sensitive analysis Risk stratification of...

HFET - Overview: Hereditary Hemochromatosis, HFE Variant Analysis, Varies

Establishing or confirming the clinical diagnosis of hereditary hemochromatosis (HH) in adults Testing of individuals with increased serum transferrin-iron saturation and ferritin Predictive testing of individuals who have a family...