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HelpCatalog ID PBGD_ Porphobilinogen Deaminase, Whole Blood
Reporting Name
PBG Deaminase, WBUseful For
Confirmation of a diagnosis of acute intermittent porphyria
Specimen Type
Whole bloodCollect 1 full Dark Green top tube. Patient should not consume alcohol for at least 24 hours prior to draw.
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.
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
Specimen Minimum Volume
3 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole blood | Refrigerated (preferred) | 8 days | |
| Ambient | 7 days |
Special Instructions
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 |
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Testing Algorithm
The following algorithms are available:
-Porphyria (Acute) Testing Algorithm
Reject Due To
| Gross hemolysis | Reject |
Method Name
Enzymatic End Point/Spectrofluorometric
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.