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HelpCatalog ID PBGDW Porphobilinogen Deaminase, Washed Erythrocytes
Reporting Name
PBG Deaminase, RBCUseful For
Confirmation of a diagnosis of acute intermittent porphyria using washed erythrocyte specimens
Testing Algorithm
The following algorithms are available:
-Porphyria (Acute) Testing Algorithm
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Specimen Type
Washed RBCOrdering 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. Volume of packed cells and total volume of specimen (red cells + saline) are required and must be sent with specimen.
2. Patient's age is required
3. 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.
Collection Container/Tube:
Preferred: Green top (sodium heparin)
Acceptable: Lavender top (EDTA) or green top (lithium heparin)
Submission Container/Tube: Plastic vial
Specimen Volume: Entire washed erythrocyte suspension
Collection Instructions: Collect and process whole blood specimen as follows:
1. Transfer entire specimen to a 12-mL graduated centrifuge tube.
2. Centrifuge specimen at 4° C for 10 minutes at 2000 rpm.
3. Record volume of packed cells and the total volume of the specimen.
4. Discard supernatant plasma.
5. Wash packed erythrocytes 2 times by resuspension of at least an equal amount of cold 0.9% saline, mix, and centrifuge for 5 minutes at 2000 rpm, discarding supernatant after each washing.
6. Resuspend packed cells to the original total volume with 0.9% saline. Invert specimen gently to mix.
Specimen Minimum Volume
1 mL of washed and resuspended erythrocytes
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Washed RBC | Frozen (preferred) | 14 days | |
| Refrigerated | 14 days | ||
| Ambient | 48 hours |
Special Instructions
Reference Values
Reference ranges have not been established for patients who are younger than 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) Performed
Thursday
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 |
|---|---|---|
| PBGDW | PBG Deaminase, RBC | 2812-6 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 31944 | PBG Deaminase, RBC | 2812-6 |
| 31945 | Interpretation | 59462-2 |
| BG575 | Total cell Suspension | 94496-7 |
| BG576 | Packed cell volume | 94497-5 |
| 606471 | Reviewed By | 18771-6 |
Report Available
2 to 8 daysReject Due To
| Cell suspension not available | 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.