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Test Code EEEVP Red Blood Cell (RBC) Enzyme Evaluation

Reporting Name

RBC Enzyme Evaluation

Useful For

Identifying defects of red cell enzyme metabolism

 

Evaluating patients with hemolytic anemia

Profile Information

Test ID Reporting Name Available Separately Always Performed
EEEV Erythrocyte Enzyme Interpretation No Yes
G6PD G-6-PD, QN, RBC Yes Yes
PK Pyruvate Kinase, RBC Yes Yes
GPI Glucose Phosphate Isomerase, B Yes Yes
HEXK Hexokinase, B No Yes

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
GLTI Glutathione, B No No
RBCE Reflexed RBC Enzymes No No

Testing Algorithm

This is a consultative evaluation in which the case will be evaluated at Mayo Medical Laboratories, the appropriate tests performed at an additional charge, and the results interpreted.

Note: RBCE / Reflexed RBC Enzymes, Blood includes: adenylate kinase, phosphofructokinase, phosphoglycerate kinase, triosephosphate isomerase, and pyrimidine 5'nucleotidase.

Performing Laboratory

Mayo Medical Laboratories in Rochester

Specimen Type

Whole Blood ACD-B


Specimen Required


Container/Tube: Yellow top (ACD solution B)

Specimen Volume: 12 mL

Collection Instructions: Do not transfer blood to other containers.


Specimen Minimum Volume

5 mL

Specimen Stability Information

Specimen Type Temperature Time
Whole Blood ACD-B Refrigerated 8 days

Reference Values

Definitive results and an interpretive report will be provided.

Day(s) and Time(s) Performed

Monday through Friday; Varies

Test Classification

See Individual Test IDs

CPT Code Information

82955-G-6-PD

84087-Glucose phosphate isomerase

84220-Pyruvate kinase

82657-Hexokinase

82978-Glutathione (if appropriate)

83915-RBC Enzymes (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
EEEVP RBC Enzyme Evaluation In Process

 

Result ID Test Result Name Result LOINC Value
21065 Erythrocyte Enzyme Interpretation 59466-3
G6PD_ G-6-PD, QN, RBC 32546-4
GPI_ Glucose Phosphate Isomerase, B 44050-3
HEXK_ Hexokinase, B 49216-5
PK_ Pyruvate Kinase, RBC 32552-2

Clinical Information

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 RBC enzyme defects (eg, 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 (eg, 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.

Interpretation

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

Clinical Reference

Beutler E: Glucose-6-phosphate dehydrogenase deficiency and other enzyme abnormalities. In Hematology. Fifth edition. Edited by E Beutler, MA Lichtmann, BS Coller, TJ Kipps. New York, McGraw-Hill Book Company, 1995, pp 564-581

Analytic Time

2-10 days (not reported Saturday or Sunday)

Reject Due To

Hemolysis

Mild OK; Gross reject

Lipemia

NA

Icterus

NA

Other

NA

 

Method Name

EEEV: Consultative Interpretation

G6PD, GPI, PK, GLTI, HEXK, RBCE: Kinetic Spectrophotometry (KS)

Forms

If not ordering electronically, complete, print, and send a Benign Hematology Test Request Form (T755) with the specimen (http://www.mayomedicallaboratories.com/it-mmfiles/benign-hematology-test-request-form.pdf)