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Porphobilinogen B - Deaminase, Erythrocytes

Uroporphyrinogen synthase, Porphobilinogen (PBG) Deaminase, Erythrocytes

Test Codes

EPIC: LAB6637, Beaker: XMISC, Mayo: PBGD

Department

Send Outs

Instructions

• Patient should abstain from alcohol for 24 hours prior to specimen collection.
• Include a list of medications the patient is currently taking with the specimen.

Specimen Collection Criteria

Collect (preferred specimen): One Green-top Sodium Heparin tube.
Also acceptable: One Green-top Lithium Heparin or Lavender-top EDTA tube.

Refrigerate specimen or place on wet ice immediately after collection and prior to transport.

Physician Office/Draw Specimen Preparation

Do not centrifuge or freeze. Refrigerate (2-8°C or 36-46°F) whole blood immediately after collection and prior to transport.

Preparation for Courier Transport

Transport: 3.0 mL whole blood, refrigerated (2-8°C or 36-46°F). (Minimum: 3.0 mL)

Rejection Criteria

• Hemolyzed specimens.
• Specimens not collected and processed as indicated.

Inpatient Specimen Preparation

Place specimen on wet ice and transport to the Laboratory immediately for processing.

In-Lab Processing

Do not centrifuge or freeze. Refrigerate (2-8°C or 36-46°F) whole blood immediately after collection and prior to transport.

Transport: 3.0 whole blood, refrigerated (2-8°C or 36-46°F). (Minimum: 3.0 mL)

Storage

Specimen Stability for Testing:

Room Temperature (20-26°C or 68-78.8°F): 7 days
Refrigerated (2-8°C or 36-46°F): 8 days
Frozen (-20°C/-4°F or below): Unacceptable

Specimen Storage in Department Prior to Disposal:

Specimen retention time is determined by the policy of the reference laboratory. Contact the Send Outs Laboratory with any questions.

Laboratory

Sent to Mayo Medical Laboratories, Rochester, MN.

Performed

Tuesday, Thursday.
Results available in 2-4 days.

Reference Range

By report.

Test Methodology

Enzymatic End-Point / Spectrofluorometric.

Interpretation

By report.

Clinical Utility

Confirmation of porphobilinogen deaminase deficiency porphyria or acute intermittent porphyria.

CPT Codes

82657

Contacts

Last Updated

7/21/2024