Test Catalog Search Results

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

MUPAN - Overview: Comprehensive Neuromuscular Gene Panel, Varies

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

PEPAN - Overview: Comprehensive Peripheral Neuropathy Gene Panel, Varies

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

OIBFG - Overview: Osteogenesis Imperfecta and Bone Fragility Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive osteogenesis imperfecta and other hereditary conditions associated with bone fragility

THEV1 - Overview: Thalassemia and Hemoglobinopathy Evaluation, Blood and Serum

Evaluation of microcytosis Extensive and economical diagnosis and classification of hemoglobinopathies or thalassemia, including complex disorders Diagnosis of hereditary persistence of hemoglobin

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...

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)

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...

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

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...

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...

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...

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.

NMITO - Overview: Nuclear Mitochondrial Gene Panel, Next-Generation Sequencing, Varies

Diagnosing the subset of mitochondrial disease that results from variants in the nuclear-encoded genes A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial disease-related genes were...