PHD2 - Overview: Prolyl Hydroxylase Domain-2 (PHD2/EGLN1) Gene Sequencing, Whole Blood

Assessing PHD2/EGLN1 in the evaluation of an individual with JAK2-negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit

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)...

GALE - Overview: Uridine Diphosphate-Galactose 4' Epimerase, Blood

Diagnosis of uridine diphosphate-galactose 4' epimerase deficiency

GNPFD - Overview: Platelet Function Defect Gene Panel, Next-Generation Sequencing, Varies

Diagnosing hereditary platelet function defect disorders for patients who have a distinct platelet function defect pattern, such as Bernard-Soulier syndrome, revealed by laboratory phenotypic testing Confirming a hereditary platelet...

ALPI - Overview: Alkaline Phosphatase Isoenzymes, Serum

Aid in the diagnosis and treatment of liver, bone, intestinal, and parathyroid diseases Determining the tissue source of increased alkaline phosphatase (ALP) activity in serum Differentiating between liver and bone sources of elevated...

C5AG - Overview: C5 Complement, Antigen, Serum

Diagnosis of C5 deficiency Investigation of a patient with an absent total complement (CH50) level

CRU - Overview: Chromium, 24 Hour, Urine

Screening for occupational exposure to chromium Monitoring metallic prosthetic implant wear

CERS - Overview: Ceruloplasmin, Serum

Investigation of patients with possible Wilson disease

CRSY - Overview: Chromium, Synovial Fluid

Monitoring metallic prosthetic implant wear and local tissue destruction in failed hip arthroplasty constructs This test is not useful for assessment of potential chromium toxicity.

HEPTP - Overview: Heparin Anti-Xa, Plasma

Measuring heparin concentration: -In patients treated with low-molecular-weight heparin preparations -In the presence of prolonged baseline activated partial thromboplastin time (APTT) (eg, lupus anticoagulant, "contact factor" deficiency,...