Whole Blood

Yellow top tube (ACD solution A)

Preferred Minimum: 10 mL whole blood
Absolute Minimum: 5 mL whole blood

Specimens other than Whole blood
Anticoagulants other than ACD

Monday through Friday; Varies

2-10 days upon receipt at reference laboratory

Definitive results and an interpretive report will be provided.

A hematopathologist expert in these disorders evaluates the case, appropriate tests are performed, and an interpretive report is issued.

All enzyme defects, including erythrocyte enzyme errors, are inherited; some are sex-linked and located on the X chromosome. Some family members have no hematologic abnormalities, while others have a hemolytic anemia. For a number of red blood cell enzyme defects (e.g., deficiencies of hexokinase, glucose phosphate isomerase, pyruvate kinase), the sole clinical manifestation is hemolytic anemia. Glucose-6- phosphate dehydrogenase deficiency is the most common metabolic error of the red cell and presents with acute hemolytic anemia in response to oxidant stress (e.g., drugs, acute infections, fava bean ingestion).

This is a consultative evaluation looking at red cell enzyme defects as the cause for early red cell destruction.

Useful for: Identifying defects of red cell enzyme metabolism and evaluating patients with hemolytic anemia.

Glutathione is reflexed (added by reference laboratory) if original enzyme information is normal.

Testing Algorithm
This is a consultative evaluation in which the case will be evaluated at the reference laboratory, the appropriate tests performed at an additional charge, and the results interpreted.

Reflexed RBC Enzymes includes: adenosine deaminase, adenylate kinase, phosphofructokinase, phosphoglycerate kinase, triosephosphate isomerase, and pyrimidine 5'nucleotidase

Kinetic Spectrophotometry (KS)

82657-RBC enzymes
82955-G-6-PD
84087-Glucose phosphate isomerase
84220-Pyruvate kinase
82978-Glutathione (if appropriate)