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Test ID: UPGD Uroporphyrinogen Decarboxylase (UPG D), Whole Blood

Reporting Name

UPG Decarboxylase, WB

Useful For

Preferred test for the confirmation of a diagnosis of porphyria cutanea tarda type II and hepatoerythropoietic porphyria

Testing Algorithm

The following algorithms are available in Special Instructions:

-Porphyria (Acute) Testing Algorithm

-Porphyria (Cutaneous) Testing Algorithm

Specimen Type

Whole blood


Specimen Required


All porphyrin tests on whole blood can be performed on 1 draw tube.

 

Container/Tube:

Preferred: Green top (sodium heparin)

Acceptable: Lavender top (EDTA) or light, green top (lithium heparin)

Specimen Volume: Full tube

Collection Instructions:

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.

Forms: 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 (T576) is available in Special Instructions.


Specimen Minimum Volume

3 mL

Specimen Stability Information

Specimen Type Temperature Time
Whole blood Refrigerated 7 days

Reference Values

>1.0 Relative Units (normal)

0.80-0.99 Relative Units (indeterminate)

<0.80 Relative Units (porphyria cutanea tarda or hepatoerythropoietic porphyria)

Day(s) and Time(s) Performed

Tuesday, Thursday; 8 a.m.

Test Classification

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

82657

LOINC Code Information

Test ID Test Order Name Order LOINC Value
UPGD UPG Decarboxylase, WB In Process

 

Result ID Test Result Name Result LOINC Value
8599 UPG Decarboxylase, WB 49596-0

Clinical Information

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 may result in the development of alopecia at sites of repeated skin damage. Liver disease is common in patients with PCT as evidenced by abnormal liver function tests and 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.

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.

Clinical Reference

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: X-Linked sideroblastic anemia and the porphyrias. In Disorders of Heme Biosynthesis. Edited by D Valle, AL Beaudet, B Vogelstein, et al. New York, McGraw-Hill, 2014. Accessed June 27, 2016. Available at http://ommbid.mhmedical.com/content.aspx?bookid=971&Sectionid=62638866

4. Doss MO, Kuhnel A, Gross U: Alcohol and porphyrin metabolism. Alcohol 2000;35(2):109-125

Analytic Time

3 days (Not reported on Saturday or Sunday)

Method Name

High-Performance Liquid Chromatography (HPLC)/Incubation of Lysed Erythrocytes

Mayo Medical Laboratories | Genetics and Pharmacogenomics Catalog Additional Information:

mml-biochemical