RBC Enzyme Evaluation
Label Mnemonic: RBCZYME
Epic code: LAB4489
Downtime form: A-1a Doctor/Provider Orders - Pathology Core and Specialty Care Nursery
Commercial Mailout Laboratory
6240-8 RCP
356-8593
Specimen(s):
Whole Blood
Collection Medium:
and or
Yellow top 6 mL (ACD solution B) Yellow top 6 mL (ACD solution B) Yellow top peds 2.7 mL (ACD solution B)
Minimum:
ACD-B tube is the only acceptable tube type at reference lab; MUST CALL Mailouts at 356-8593 for tube. This tube is not available through Hospital Stores.

Preferred Minimum: 12 mL whole blood (requires TWO 6 mL ACD-B tubes)
Absolute Minimum: 5 mL whole blood (requires TWO peds 2.7 mL ACD-B tubes)
Rejection Criteria:
Specimens other than Whole blood
Anticoagulants other than ACD
Delivery Instructions:
Deliver to laboratory immediately after collection.
Testing Schedule:
Monday through Friday; Varies
Turn Around Time:
2 days upon receipt at reference laboratory
Reference Range:
Definitive results and an interpretive report will be provided.
Interpretive Data:
A hematopathologist expert in these disorders evaluates the case, appropriate tests are performed, and an interpretive report is issued.
Comments:
Erythrocyte enzyme deficiencies are inherited causes of hemolytic anemia. Some are very common, such as glucose-6-phosphate dehydrogenase (G6PD) deficiency, and others are very rare, found in only a few families around the world. Most are autosomal, but some are sex-linked and located on the X chromosome. Most enzyme deficiencies result in chronic nonspherocytic hemolytic anemia of variable severity; however, some, such as G6PD, can be hematologically normal with episodic acute hemolysis due to a trigger event such as medications, toxins, or some foods. The RBC enzymopathies do not typically show recurrent pathognomonic changes on the peripheral blood smear other than generic features of hemolytic anemia, although some such as pyruvate kinase deficiency can have echinocytes and pyrimidine 5' nucleotidase (P5NT) deficiency is associated with basophilic stippling. RBC enzyme activity levels are best evaluated as a panel as reticulocytosis can mask some deficient states and comparison to the background enzyme activity is useful.

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.

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.
Methodology:
Kinetic Spectrophotometry (KS)
CPT Code:
82955 - G6pd Enzyme Activity
84087 - Glucose Phosphate Isomerase
84220- Pyruvate Kinase Enzyme Actvity
82657 - Hexokinase
82657 - Adenylate Kinase
82657 Phophofructokinase
82657 Phophoglycerate Kinase
82657 - Triosephosphate Isomerase
82978 - Glutathione
83915 - Pyrimidine 5' Nucleotidase
 
See Additional Information:
Specimens Requiring Immediate Delivery