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Test ID UPGD Uroporphyrinogen Decarboxylase, Whole Blood

Useful For

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

Genetics Test Information

Uroporphyrinogen decarboxylase (UROD) is deficient in cases of type II porphyria cutanea tarda (PCT). Enzyme analysis is uninformative in sporadic PCT cases.

Method Name

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

Reporting Name

UPG Decarboxylase, WB

Specimen Type

Whole blood


Ordering 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 should abstain from alcohol for 24 hours prior to specimen collection. Abstinence from alcohol is essential for at least 24 hours 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

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, Thursday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82657

LOINC Code Information

Test ID Test Order Name Order LOINC Value
UPGD UPG Decarboxylase, WB 49596-0

 

Result ID Test Result Name Result LOINC Value
8599 UPG Decarboxylase, WB 49596-0
606379 Interpretation (UPGD) 59462-2
606380 Reviewed By 18771-6

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 US Food and Drug Administration.

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.

Report Available

3 to 7 days

NY State Approved

Yes

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.