PSYR - Overview: Psychosine, Whole Blood

Aiding in the biochemical diagnosis of Krabbe disease using whole blood specimens Follow-up of individuals affected with Krabbe disease Follow-up testing after an abnormal newborn screening result for Krabbe disease Monitoring of...

TALDO - Overview: Polyols, Quantitative, Urine

Diagnosing deficiencies of transaldolase, transketolase, sedoheptulose, or ribose-5-phosphate isomerase

CFX - Overview: Protein C Activity, Plasma

As an initial test for evaluating patients suspected of having congenital protein C deficiency, including those with personal or family histories of thrombotic events Detecting and confirming congenital type I and type II protein C...

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)...

AVWPQ - Overview: von Willebrand Disease Profile Interpretation

Interpretation of testing performed as part of a profile for detection of deficiency or abnormality of von Willebrand factor (VWF) and related deficiency of factor VIII coagulant activity Interpretation of testing performed as part of a...

GBAW - Overview: Beta-Glucosidase, Leukocytes

Diagnosis of Gaucher disease This test is not intended for carrier detection.

TPMT3 - Overview: Thiopurine Methyltransferase Activity Profile, Erythrocytes

Detection of individuals with low thiopurine methyltransferase (TPMT) activity who are at risk for excessive myelosuppression or severe hematopoietic toxicity when taking thiopurine drugs Detection of individuals with hyperactive TPMT...

WNC - Overview: West Nile Virus Antibody, IgG and IgM, Spinal Fluid

Aiding in diagnosis of central nervous system infection with West Nile virus

COVSQ - Overview: Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2), Spike Antibody, Semi-Quantitative, Serum

Aiding in the identification of individuals with an adaptive immune response to SARS-CoV-2, indicating prior infection or vaccination

AGAW - Overview: Alpha-Galactosidase, Leukocytes

Diagnosis of Fabry disease in male patients Verifying abnormal serum alpha-galactosidase results in male patients with a clinical presentation suggestive of Fabry disease This test is not useful for patients undergoing a work-up for a...