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HelpTest Code UPGC Uroporphyrinogen III Synthase (Co-Synthase), Erythrocytes
Reporting Name
Uroporphyrinogen III Synthase, RBCPerforming Laboratory
Mayo Clinic Laboratories in Rochester
Useful For
Diagnosis of congenital erythropoietic porphyria
This test is not useful for diagnosis of acute intermittent porphyria (AIP).
Method Name
High-Performance Liquid Chromatography (HPLC)
Ordering Guidance
This test is most appropriately used for pediatric patients.
This test measures uroporphyrinogen (UPG) III synthase to confirm congenital erythropoietic porphyria, which is typically seen in early infancy. It does not measure UPG I synthase (also known as porphobilinogen deaminase), the enzyme deficient in acute intermittent porphyria (AIP). For AIP (and UPG I synthase), order PBGD_ / Porphobilinogen Deaminase, Whole Blood.
Necessary Information
1. Include a list of medications the patient is currently taking.
2. Date of transfusion, if performed
Specimen Required
All porphyrin tests on erythrocytes can be performed on one collection tube.
Patient Preparation: Patient must not consume any alcohol for 24 hours before specimen collection.
Container/Tube: Green top (sodium or lithium heparin)
Specimen Volume: 4 mL
Collection Instructions: Immediately place specimen on wet ice.
Specimen Type
WB HeparinSpecimen Minimum Volume
3 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| WB Heparin | Refrigerated | 7 days |
Reject Due To
| Gross hemolysis | Reject |
Interpretation
Abnormal results are reported with a detailed interpretation that may include an overview of the results and their significance, a correlation to available clinical information provided with the specimen, differential diagnosis, recommendations for additional testing when indicated and available, and a phone number to reach a laboratory director in case the referring physician has additional questions.
Day(s) Performed
Varies
Report Available
3 to 9 daysTest 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 |
|---|---|---|
| UPGC | Uroporphyrinogen III Synthase, RBC | 11066-8 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 80288 | Uroporphyrinogen III Synthase, RBC | 11066-8 |
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.