GNPRS - Overview: Protein S Deficiency, PROS1 Gene, Next-Generation Sequencing, Varies

Evaluating protein S deficiency in patients with a personal or family history suggestive of this hereditary thrombophilia Confirming a diagnosis of autosomal dominant protein S deficiency with the identification of a known or suspected...

A2PI - Overview: Alpha-2 Plasmin Inhibitor, Plasma

Diagnosing congenital alpha-2 plasmin inhibitor deficiencies (rare) Providing a complete assessment of disseminated intravascular coagulation, intravascular coagulation and fibrinolysis, or hyperfibrinolysis (primary fibrinolysis), when...

CK - Overview: Creatine Kinase (CK), Serum

Diagnosing and monitoring myopathies or other trauma, toxin, or drug-induced muscle injury

F9_IS - Overview: Factor IX Inhibitor Screen, Plasma

Detecting the presence of a specific factor inhibitor directed against coagulation factor IX

F5_IS - Overview: Factor V Inhibitor Screen, Plasma

Detecting the presence of a specific factor inhibitor directed against coagulation factor V

PTSC - Overview: Prothrombin Time (PT), Plasma

Screening to identify a deficiency of one or more of the clotting factors of the extrinsic coagulation system (I, II, V, VII, X) due to hereditary deficiency or acquired conditions such as liver disease, vitamin K deficiency, or a specific...

GALT - Overview: Galactose-1-Phosphate Uridyltransferase, Blood

Diagnosis of galactose-1-phosphate uridyltransferase deficiency, the most common cause of galactosemia Confirmation of abnormal state newborn screening results

GALCW - Overview: Galactocerebrosidase, Leukocytes

Diagnosis of Krabbe disease Follow-up testing for evaluation of an abnormal newborn screening result for Krabbe disease This test is not intended for carrier detection.

ECMP - Overview: Eculizumab Monitoring Panel, Serum

Monitoring of complement blockage by eculizumab Assessing the response to eculizumab therapy Assessing the need for dose escalation Evaluating the potential for dose de-escalation or discontinuation of therapy in remission...

U1A1Q - Overview: Uridine Diphosphate (UDP) Glucuronosyltransferase 1A1 TA Repeat Genotype, UGT1A1, Varies

Identifying individuals who are at increased risk of adverse drug reactions with drugs that are metabolized by uridine diphosphate glucuronosyltransferase (UGT1A1); especially irinotecan but also atazanavir, nilotinib, pazopanib, and...