AATTA - Overview: Antithrombin Summary Interpretation

Diagnosis of antithrombin deficiency, acquired or congenital Monitoring treatment of antithrombin deficiency disorders, including infusion of antithrombin therapeutic concentrate

GUSBB - Overview: Beta-Glucuronidase, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidosis VII (MPS VII, Sly syndrome) This test is not useful for determining carrier status for MPS VII.

CFRC - Overview: Bacterial Culture, Cystic Fibrosis, Respiratory

Detecting disease-causing aerobic bacteria in specimens from patients with cystic fibrosis

MSCSF - Overview: Bacteria, Virus, Fungus, and Parasite Metagenomic Sequencing, Spinal Fluid

Detecting and identifying pathogenic organisms including bacteria, fungi, DNA viruses, RNA viruses, and parasites in cerebrospinal fluid This test is not recommended as a test of cure because nucleic acids may persist after successful...

KRASD - Overview: Cell-Free DNA KRAS 12, 13, 61,146, Blood

An alternative to invasive tissue biopsies for the determination of KRAS 12, 13, 61,146 (G12A, G12C, G12D, G12R, G12S, G12V, G13D, Q61K, Q61L, Q61R, Q61H, and A146T) mutation status Detecting molecular markers associated with response or...

DOCK8 - Overview: Dedicator of Cytokinesis 8 (DOCK8) Deficiency, Blood

Aiding in the diagnosis of dedicator of cytokinesis 8 (DOCK8) deficiency This test is not useful for assessing DOCK8 carrier status.

CH9 - Overview: Chromogenic Factor IX Activity Assay, Plasma

Monitoring coagulation factor replacement therapy of selected extended half-life coagulation factor replacements Aiding in the diagnosis of hemophilia B using a 2-stage assay, especially when a 1-stage assay was normal

CJDEI - Overview: Creutzfeldt-Jakob Disease Evaluation Interpretation, Spinal Fluid

Interpretation of the Creutzfeldt-Jakob Disease Evaluation

C1INF - Overview: C1 Esterase Inhibitor, Functional, Serum

Diagnosing hereditary angioedema Monitoring response to C1 esterase inhibitor replacement therapy

CTXBS - Overview: Cerebrotendinous Xanthomatosis, Blood Spot

Evaluating patients with a clinical suspicion of cerebrotendinous xanthomatosis (CTX) using dried blood spot specimens Monitoring individuals with CTX on chenodeoxycholic acid (CDCA) therapy This test is not useful for the...