Uroporphyrinogen Decarboxylase (UPG D), Whole Blood
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Diagnosis of porphyria cutanea tarda type II and hepatoerythropoietic porphyria
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
Uroporphyrinogen decarboxylase (UPGD) is deficient in cases of type II porphyria cutanea tarda (PCT). Enzyme analysis is uninformative in sporadic PCT cases.
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
The following algorithms are available in Special Instructions:
-Porphyria (Acute) Testing Algorithm
-Porphyria (Cutaneous) Testing Algorithm
Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test
High-Performance Liquid Chromatography (HPLC)/Incubation of Lysed Erythrocytes
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
UPG Decarboxylase, WB
Erythrohepatic Uroporphyria (EHUP)
Hepatoerythropoietic Porphyria (HEP)
Porphyria Cutanea Tarda (PCT)
Hepatoerythropoietic Porphyria (HEP)
Porphyria Cutanea Tarda (PCT)
Specimen Type Describes the specimen type needed for testing
Specimen Required Defines the optimal specimen. This field describes the type of specimen required to perform the test and the preferred volume to complete testing. The volume allows automated processing, fastest throughput and, when indicated, repeat or reflex testing.
All porphyrin tests on whole blood can be performed on 1 draw tube.
Preferred: Green top (sodium heparin)
Acceptable: Lavender top (EDTA) or light, green top (lithium heparin)
Specimen Volume: Full tube
1. Patient should abstain from alcohol for 24 hours.
2. Immediately place specimen on wet ice.
Additional Information: Include a list of medications the patient is currently taking.
1. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (Supply T576) is available in Special Instructions.
2. If not ordering electronically, submit a Biochemical Genetics Request Form (Supply T439) with the specimen.
Specimen Minimum Volume Defines the amount of specimen required to perform an assay once, including instrument and container dead space. Submitting the minimum specimen volume makes it impossible to repeat the test or perform confirmatory or perform reflex testing. In some situations, a minimum specimen volume may result in a QNS (quantity not sufficient) result, requiring a second specimen to be collected.
Mild reject; Gross reject
Frozen whole blood
Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.
|Whole blood||Refrigerated||7 days|
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
The porphyrias are a group of inherited disorders resulting from enzyme defects in the heme biosynthetic pathway. Porphyria cutanea tarda (PCT) is the most common porphyria resulting from a partial deficiency of hepatocyte and/or erythrocyte uroporphyrinogen decarboxylase (UROD). PCT is classified into 3 subtypes. The most frequently encountered is type I, a sporadic or acquired form, typically associated with concomitant disease or other precipitating factors. Patients exhibit normal UROD activity in erythrocytes but decreased hepatic activity. This differs from type II PCT in which patients exhibit approximately 50% activity in both erythrocytes and hepatocytes. Type II accounts for about 20% of cases and is inherited in an autosomal dominant manner with low penetrance. Type III is a rare familial form seen in <5% of PCT cases. As in type I, patients with type III PCT have normal UROD activity in erythrocytes with decreased hepatic activity. Type III cases are distinguished from type I by the history of other affected family members.
Hepatoerythropoietic porphyria (HEP) is a rare autosomal recessive form of porphyria that typically presents in early childhood. Patients have a severe deficiency of UROD, with activity levels 10% of normal in both hepatocytes and erythrocytes.
All forms of PCT and HEP result in accumulation of uroporphyrin and intermediary carboxyl porphyrins in skin, subcutaneous tissues, and the liver. The most prominent clinical characteristics are cutaneous photosensitivity and scarring on sun-exposed surfaces. Patients experience chronic blistering lesions resulting from mild trauma to sun-exposed areas. These fluid-filled vesicles rupture easily, become crusted, and heal slowly. Secondary infections can cause areas of hypo- or hyperpigmentation or sclerodermatous changes and alopecia may develop at sites of repeated skin damage. Liver disease is common in patients with PCT as evidenced by abnormal liver function tests with 30% to 40% of patients developing cirrhosis. In addition, there is an increased risk of hepatocellular carcinoma.
The workup of patients with a suspected porphyria is most effective when following a stepwise approach.
See Porphyria (Cutaneous) Testing Algorithm in Special Instructions or contact Mayo Medical Laboratories to discuss testing strategies.
Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
1.0-3.0 Relative Units (normal)
0.80-0.99 Relative Units (marginal)
<0.80 Relative Units (porphyria cutanea tarda or hepatoerythropoietic porphyria)
See The Heme Biosynthetic Pathway in Special Instructions.
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.
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
Abstinence from alcohol for at least 24 hours is essential, as alcohol suppresses enzyme activity for 24 hours after ingestion. Ingestion may lead to a false-positive result.
Porphyria cutanea tarda (PCT) type I, the most common form of PCT, exhibits normal RBC enzyme activity. The preferred test for diagnosis is 8562/PQNU Porphyrins, Quantitative, Urine or 60597/PQNRU Porphyrins, Quantitative, Random, Urine.
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
1. Tortorelli S, Kloke K, Raymond K: Chapter 15: Disorders of porphyrin metabolism. In Biochemical and Molecular Basis of Pediatric Disease. Fourth Edition. Edited by DJ Dietzen, MJ Bennett, ECC Wong. AACC Press 2010, pp 307-324
2. Nuttall KL, Klee GG: Analytes of hemoglobin metabolism - porphyrins, iron, and bilirubin. In Tietz Textbook of Clinical Chemistry. Fifth edition. Edited by CA Burtis, ER Ashwood. Philadelphia, WB Saunders Company, 2001, pp 584-607
3. Anderson KE, Sassa S, Bishop DF, Desnick RJ: Disorders of heme biosynthesis: X-linked sideroblastic anemia and the porphyrias. In The Metabolic Basis of Inherited Disease. Eighth edition. Edited by CR Scriver, AL Beaudet, WS Sly, et al. New York, McGraw-Hill Book Company, 2001, pp 2991-3062
4. Doss MO, Kuhnel A, Gross U: Alcohol and porphyrin metabolism. Alcohol 2000;35(2):109-125
Method Description Describes how the test is performed and provides a method-specific reference
This procedure is performed by incubation of lysed red cells with delta-aminolevulinic acid as the substrate followed by analysis of the porphyrins formed.(Unpublished Mayo method)
Day(s) and Time(s) Test Performed Outlines the days and times the test is performed. This field reflects the day and time the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time required before the test is performed. Some tests are listed as continuously performed, which means assays are performed several times during the day.
Tuesday, Thursday; 8 a.m.
Analytic Time Defines the amount of time it takes the laboratory to setup and perform the test. This is defined in number of days. The shortest interval of time expressed is "same day/1 day," which means the results may be available the same day that the sample is received in the testing laboratory. One day means results are available 1 day after the sample is received in the laboratory.
3 days (Not reported on Saturday or Sunday)
Maximum Laboratory Time Defines the maximum time from specimen receipt at Mayo Medical Laboratories until the release of the test result
Specimen Retention Time Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Performing Laboratory Location The location of the laboratory that performs the test
Test Classification Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer's instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR), Investigation Use Only (IUO) product, or a Research Use Only (RUO) product.
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.
CPT Code Information Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Medical Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
LOINC® Code Information Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the result codes returned for this test or profile.
|Result ID||Reporting Name||LOINC Code|
|8599||UPG Decarboxylase, WB||49596-0|