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Test Code MISCLM Porphobilinogen Deaminase (PBGD), Whole Blood

Important Note



Additional Codes







Reporting Name

PBG Deaminase, WB

Useful For

Confirmation of a diagnosis of acute intermittent porphyria (AIP)

Testing Algorithm

The following algorithms are available in Special Instructions:

-Porphyria (Acute) Testing Algorithm

-Porphyria (Cutaneous) Testing Algorithm

Method Name

Enzymatic End point/Spectrofluorometric

Performing Laboratory

Mayo Medical Laboratories in Rochester

Specimen Type

Whole blood

Advisory Information

This test is for diagnosis of acute intermittent porphyria. Porphobilinogen deaminase, also known as uroporphyrinogen I synthase, is commonly confused with uroporphyrinogen III synthase, the enzyme deficient in congenital erythropoietic porphyria (CEP). For CEP cases, order UPGC / Uroporphyrinogen III Synthase (Co-Synthase) (UPG III S), Erythrocytes.

Necessary Information

Include a list of medications the patient is currently taking.

Specimen Required

All porphyrin tests on whole blood can be performed on 1 draw tube.


Patient Preparation: Abstinence from alcohol for at least 24 hours prior to specimen collection is essential as ethanol induces porphobilinogen deaminase (PBGD) activity, which may lead to a false-normal result.


Preferred: Green top (sodium heparin)

Acceptable: Lavender top (EDTA) or green top (lithium heparin)

Specimen Volume: Full tube

Collection Instructions:

1. Patient should abstain from alcohol for 24 hours.

2. Immediately place specimen on wet ice.

Specimen Minimum Volume

3 mL

Specimen Stability Information

Specimen Type Temperature Time
Whole blood Refrigerated 7 days

Reject Due To


Mild reject; Gross reject






Ambient or frozen whole blood

Reference Values

Reference ranges have not been established for patients who are <16 years of age.


≥7.0 nmol/L/sec

6.0-6.9 nmol/L/sec (indeterminate)

<6.0 nmol/L/sec (diminished)

Day(s) and Time(s) Performed

Monday, Wednesday, Friday; 8 a.m.

CPT Code Information


LOINC Code Information

Test ID Test Order Name Order LOINC Value
PBGD_ PBG Deaminase, WB 12810-8


Result ID Test Result Name Result LOINC Value
4022 PBG Deaminase, WB 12810-8
28400 Interpretation 59462-2

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

Analytic Time

2 days (not reported on Saturday or Sunday)


New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (T576) is available in Special Instructions.