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Test Code PBGD_ Porphobilinogen Deaminase, Whole Blood


Ordering Guidance


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), Erythrocytes.



Necessary Information


1. Patient’s age is required

2. Include a list of medications the patient is currently taking.



Specimen Required


Patient Preparation: Patient must not consume any alcohol for 24 hours before specimen collection. This is essential as ethanol induces porphobilinogen deaminase activity, which may lead to a false-normal result.

Container/Tube:

Preferred: Green top (sodium heparin)

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

Specimen Volume: 4 mL

Collection Instructions: Refrigerate specimen as soon as possible.


Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.

Useful For

Confirmation of a diagnosis of acute intermittent porphyria

Method Name

Enzymatic End Point/Spectrofluorometric

Reporting Name

PBG Deaminase, WB

Specimen Type

Whole blood

Specimen Minimum Volume

3 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Refrigerated (preferred) 8 days
  Ambient  7 days

Reject Due To

Gross hemolysis Reject

Reference Values

Reference ranges have not been established for patients who are younger than 16 years.

 

≥7.0 nmol/L/sec

6.0-6.9 nmol/L/sec (indeterminate)

<6.0 nmol/L/sec (diminished)

Day(s) Performed

Thursday

Report Available

2 to 8 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

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

CPT Code Information

82657

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
606470 Reviewed By 18771-6