Order Code LABUPGD Uroporphyrinogen Decarboxylase, Whole Blood
Additional Codes
Mayo Test Code: UPGD
Reporting Name
UPG Decarboxylase, WBUseful For
Preferred test for the confirmation of a diagnosis of porphyria cutanea tarda type II and hepatoerythropoietic porphyria
Testing Algorithm
The workup of patients with a suspected porphyria is most effective when following a stepwise approach. See Porphyria (Cutaneous) Testing Algorithm or call 800-533-1710 to discuss testing strategies. If guidance is needed for an acute form of porphyria, the Porphyria (Acute) Testing Algorithm is also available.
Performing Laboratory
Mayo Clinic Laboratories in RochesterSpecimen Type
Whole bloodOrdering Guidance
Porphyria cutanea tarda (PCT) type I (sporadic), the most common form of PCT, exhibits normal erythrocyte enzyme activity. The preferred test for diagnosis of type I is PQNU / Porphyrins, Quantitative, 24 Hour, Urine or PQNRU / Porphyrins, Quantitative, Random, Urine.
Necessary Information
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 alcohol suppresses enzyme activity for 24 hours after ingestion.
Container/Tube:
Preferred: Green top (sodium heparin)
Acceptable: Lavender top (EDTA) or green top (lithium heparin)
Specimen Volume: 4 mL
Specimen Minimum Volume
3 mL
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Whole blood | Refrigerated (preferred) | 14 days | |
Ambient | 7 days |
Special Instructions
Reference Values
≥1.00 RU (normal)
0.80-0.99 RU (indeterminate)
<0.80 RU (indicative of PCT type II)
RU = Relative Units
Day(s) Performed
Tuesday
CPT Code Information
82657
Genetics Test Information
Uroporphyrinogen decarboxylase is deficient in cases of type II porphyria cutanea tarda (PCT). Enzyme analysis is uninformative in sporadic PCT cases.
Method Description
This procedure is performed by incubation of lysed red blood cells with delta-aminolevulinic acid as the substrate followed by analysis of the porphyrins formed.(Unpublished Mayo method)
Reject Due To
Gross hemolysis | Reject |
Method Name
High-Performance Liquid Chromatography (HPLC)/Incubation of Lysed Erythrocytes
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.