TOXO - Overview: Toxoplasma Immunostain, Technical Component Only

Identification of Toxoplasma gondii infection

URPRP - Overview: Ureaplasma species, Molecular Detection, PCR, Plasma

Rapid, sensitive, and specific identification of Ureaplasma urealyticum and Ureaplasma parvum from plasma This test is not intended for medicolegal use.

URBRP - Overview: Ureaplasma species, Molecular Detection, PCR, Blood

Rapid, sensitive, and specific identification of Ureaplasma urealyticum and Ureaplasma parvum from whole blood This test is not intended for medicolegal use.

IDH1 - Overview: IDH1 Mutation (R132H) Immunostain, Technical Component Only

Classification of gliomas

PFK1 - Overview: Phosphofructokinase Enzyme Activity, Blood

Evaluation of individuals with Coombs-negative nonspherocytic hemolytic anemia Evaluation of individuals with exercise intolerance or myopathy Genetic studies in families with phosphofructokinase deficiency

DMS2 - Overview: Dementia, Autoimmune/Paraneoplastic Evaluation, Serum

Investigating new onset dementia and cognitive impairment plus 1 or more of the following using serum specimens: -Rapid onset and progression -Fluctuating course -Psychiatric accompaniments (psychosis, hallucinations) -Movement disorder...

COGBF - Overview: B-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Children's Oncology Group Enrollment Testing, FISH, Varies

Evaluation of pediatric bone marrow and peripheral blood specimens by fluorescence in situ hybridization probe analysis for classic rearrangements and chromosomal copy number changes associated with B-cell acute lymphoblastic...

BCELL - Overview: B-Cell and Antibody Deficiency Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited primary B-cell disorder or humoral immunodeficiency Establishing a diagnosis of a primary B-cell disorder or humoral...

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...

GNMTC - Overview: Macro/Microthrombocytopenia Gene Panel, Next-Generation Sequencing, Varies

Evaluating hereditary macro- or microthrombocytopenia disorders in patients with a personal or family history suggestive of a hereditary macro- or microthrombocytopenia disorder Diagnosing hereditary macro- or microthrombocytopenia...