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HelpTest Code PBGD_ Porphobilinogen Deaminase, Whole Blood
Reporting Name
PBG Deaminase, WBUseful For
Confirmation of a diagnosis of acute intermittent porphyria
Testing Algorithm
The following algorithms are available:
-Porphyria (Acute) Testing Algorithm
Method Name
Enzymatic End Point/Spectrofluorometric
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Specimen Type
Whole bloodOrdering 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.
Specimen Minimum Volume
3 mL
Reject Due To
| Gross hemolysis | Reject |
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole blood | Refrigerated (preferred) | 8 days | |
| Ambient | 7 days |
Special Instructions
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
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 |
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.Report Available
2 to 8 daysForms
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.